The pathological anatomical collection of the Natural History Museum Vienna

Abstract

The pathological anatomical collection Vienna (Pathologisch-Anatomische Sammlung Wien; PASW) is a living and still growing research collection. It was established as early as 1796 as part of the Medical University of Vienna, acquired the status of an independent federal museum in 1971, and was assigned to the Natural History Museum Vienna in 2012. It houses a wide range of human wet and dry specimens and further objects, such as moulages, medical devices, microbiological and histological specimens, and a photo archive (approximately 50,000 objects), which, as a meaningful source, may contribute to disclosing not only aspects of the medical history and the development of corresponding museums in Vienna, but is also considered a collection of cultural and current scientific relevance, quite comparable to today’s biobanks. Most of the tissue amassment represents wet organic specimens and human skeletons or skeletal elements representing, e.g., congenital and metabolic disorders, infectious diseases, injuries, neoplasms, or musculoskeletal diseases, basically collected as descriptive anatomical teaching aids. This article reviews the current medical issues on which research has been and is being conducted by including PASW specimens (hereby using the ICD-10 code), and the extent to and ethical conditions under which this important heritage could be used as a reference collection for clinical and bioanthropological (paleopathological and palaeoepidemiological) studies; finally, this article reflects on the value and future research prospects, taking into account different positions and the ongoing discussions in pathological anatomical human tissue collections.

Introduction

Short history on the collection and origin of objects

The history of the pathological-anatomical collection in Vienna (PASW-pathologisch-anatomische Sammlung Wien) is intricately linked to that of Viennese anatomy and pathology as well as to the Museum of Human Anatomy; hence, we give a brief excursion on the complex development of these objects and institutions, with a strong personal reference to protagonists and curators (see among others [1–13]). Until around the middle of the 18th century, anatomy—like other theoretical subjects in medicine—was of only minor importance in the context of medical training [4]. In 1718, the medical faculty decided to build an “anatomical theatre” in the citizen’s hospital to demonstrate anatomical operations. Dissection courses for physicians themselves were not integrated into training until the first anatomy chair was established in 1735.

This was also the time when, due to an imperial decree, all deceased bodies in the civic hospital and other social institutions were to be made available for anatomical teaching. One of the leading protagonists of this period was Gerard van Swieten (1700–1772), private physician of Maria Theresia and later founder of the older Vienna Medical School, who finally extended this regulation to all hospitals. For the first time, human anatomical tissue specimens were produced as a source of education [14]; these specimens also formed the basis for an intended Museum of Anatomy [4]. In the 1780s, this collection was recorded in a catalogue and significantly enlarged by the incorporation of anatomical pathological specimens of Ferdinand Leber (1727–1808) and by an intensified general collecting and preparation activity. These specimens were found to remain in an “anatomical theatre” within the university area, which was newly built under Josef II. Despite these promising developments, the pathological anatomical science in Vienna could not (yet) establish itself institutionally, and the efforts to set up an anatomical museum were initially not successful.

This was not to happen until 1795, as, firstly, the Lower Austrian sanitary consultant Josef Pasqual von Ferro (1753–1809) had applied for the creation of a pathological anatomical museum and issued an order to keep interesting specimens for demonstrative purposes, and, secondly, the German physician Johann Peter Frank (1745–1821), a pioneer of the public health service and hygiene aspects, was appointed to the Vienna General Hospital as director general [1]. Frank’s intentions regarding the establishment of a “Pathological Anatomical Institute,” as well as an officially associated pathological anatomical collection were already successful one year after his arrival in Vienna in 1796 [14–16]. Leaving aside Frank’s improvement in this regard, institutionalization was undoubtedly the result of a variety of contemporary circumstances, including political reforms and their consequences, that characterize the second half of the 18th century [14], as well as cultural and scientific factors, e.g., regulations and easier access to clinical and anatomical “teaching material,” education of the physicians and “knowledge production” for general practitioners and clinicians (concerning the local conditions in Vienna, see the critical essays by [17] and the perception of the patient as an “object of research” [18]).

Infobox 1: Curators of the pathological anatomical collection

1796

Aloys Rudolf Vetter

1812

Lorenz Biermayer

1829

Johann Wagner

1834

Carl v. Rokitansky

1875

Richard Ladislaus Heschl

1882

Hans Kundrat

1893

Anton Weichselbaum

1916

Alexander Kolisko

1920

Heinrich Albrecht

1922

Rudolf Maresch

1936

Hermann Chiari

1946

Karl A. Portele

1993

Beatrix Patzak

2013

(continuing) Eduard Winter

As prosector of the Vienna General Hospital and conservator of the museum, Frank appointed the young, highly motivated anatomist Aloys Rudolph Vetter (1765–1806), who waived personal benefits and a salary. In 1803, the collection already comprised 400 specimens, about 40 objects of today’s collection date to this early phase of object acquisition1. Both protagonists remained connected to the institution in Vienna for only a few years: in 1804, Frank was appointed to the Imperial University in Vilnius and Vetter was appointed professor of anatomy and physiology in Kraków. The time afterwards is characterized by an obvious disinterest of the general hospital’s directors in pathology, apparently also scientific political controversies, which heated up on the question of the positioning of pathology as a medical field.

A solution emerged in 1811 with the new head of the General Hospital, Valentin von Hildenbrand (1763–1818), who appointed Lorenz Biermayer (1778–1843) as pathological prosector and custos of the museum (from 1812) [6]. He wrote the first museum catalogue, begun in 1813 and preserved to this day [9]. At the same time, the medical and teaching issues in the monarchy were regulated by the authorities, which also included the handling of the bodies of the deceased. All those who died in the clinics of the general hospital were now to be dissected by the pathologists, the findings recorded, and the most interesting specimens collected and documented, including their medical history. Biermayer’s first autopsy protocol dates to 1817 [12]; unfortunately, the specimen has not been preserved. Biermayer’s further professional work was judged ambivalently by contemporary witnesses and ended with his dismissal. However, it remains to his credit that the specimens taken could be integrated into the museum’s holdings, catalogued in detail, and used for teaching and research.

After Biermayer’s retirement, the museum catalogue was continued by his two assistants Johann Wagner (1800–1832) and Carl von Rokitansky (1804–1878), who had already been accepted as an initially unpaid trainee in 1827. Since Johann Wagner died only a few years after taking over the management of the museum in 1832, Rokitansky was entrusted with the agenda.

In 1843, he not only carried out a first revision of the collection, in which a large part of the specimens was removed [10], but he also shifted the emphasis in the collection from macropathology to micropathology (histopathology). During this time, around the middle of the 19th century, the importance of anatomical science and especially pathology was recognized by clinicians. A development that led to the establishment of a first chair for pathological anatomy in 1844, to which Rokitansky was appointed. From now on, the extraction and preservation of organic (wet) specimens was at the center. Many of them are attributable to Rokitansky, the prestigious and most important pathological anatomist of his time and cofounder of the young Vienna Medical School, and have been preserved to this day at the pathological anatomical collection, together with numerous original drawings he had made of histological tissue slides. These specimens are relics from more than 60,000 autopsies and documents of the paradigmatic turn to micropathology and his concept of a “disease process,” which he was able to reconstruct from the accumulation of different symptoms and disease stages in a “scientifically sound and systematic” way [19].

It is therefore not surprising that he also played a decisive role in the successful establishment of the “Vienna Anthropological Society” in 1870, to which many physicians of different disciplines belonged; as its first president, he also contributed to shaping the path for a “science of man” that researched and collected on a scientific basis. Thanks to his international reputation, a new pathological anatomical institute was constructed, which was opened in 1862 and was in use until its relocation to the new General Hospital in 1991.

In this period, around the middle of the 19th century, the anatomist Joseph Hyrtl (1810–1894), known far beyond the borders of Austria-Hungary, had been active in Vienna since 1845 as ordinarius for anatomy; he should briefly be mentioned here, because he had gained a reputation not only as a teacher and textbook author, but also as a “preparation artist,” as a collection creator (in 1850, he founded the Museum of Comparative Anatomy in Vienna), and as director of the Museum of Human Anatomy (founded by Gerard van Swieten in 1745). Hyrtl is further noted for his contribution to the “Novara expedition” (1857–1859): as a member of the Academy of Sciences, he was involved in the selection of participants, scientific evaluation, and publication of human relics (approximately 100 human skulls in his collection were much sought after “non-European human varieties” and “atypia”) that were collected during this journey and at first kept at the Anatomical Institute. After a ministerial request to hand over the whole collection to the newly founded national research center of anthropology at the Natural History Museum Vienna, he retained some of them. In the 1980s, the museum at the Anatomical Institute became disclosed and the objects were integrated into the Federal Pathological-Anatomical Museum and “rediscovered” as part of the Novara and Natural History Museum Vienna collection in 2012 (see [20, 21]).

In 1875, Rokitansky’s successor in Vienna was his former student Richard Heschl (1824–1881), full professor of anatomy in Graz. Heschl had already founded and directed a pathological anatomical museum in Graz, was experienced as curator, and increased the Viennese collection in the few years of his activity mainly with dry specimens, especially crania and cranial fragments2. This collection of macroscopic objects prospered in the following years through the incorporation of items from, e.g., the Graz Institute of Pathology, which were brought to Vienna by Hanns Kundrat (1845–1893), formerly also an assistant to Rokitansky. His research was oriented toward cerebral malformations, but his passion was the pathological anatomical collection, which he continuously expanded; some parts of Josef Hyrtl’s considerable collection were also taken over during this time. For some of his successors—Anton Weichselbaum (1845–1920), Alexander Kolisko (1857–1918), and Heinrich Albrecht (1866–1922)—the pathological anatomical museum was less important: Anton Weichselbaum, for example, focused on microbiology and histopathology, probably the most innovative and promising field of research before and around the turn of the millennium; his experiences with Robert Koch (1843–1910) in Berlin may have also influenced the foundation of a Viennese microbiological laboratory. Here, significant bacteriological discoveries were made (among other things, the pathogen of pneumonia or epidemic meningitis was identified) and it is not surprising that Weichselbaum was on the spot at the outbreak of the last major plague epidemic in India (1897) as the initiator of a Viennese expedition to Bombay (commissioned by the Austrian Academy of Sciences) to study this disease and its transmission paths. Numerous treatises on the protagonists, the objectives, the course, and the results of this undertaking, which had not been without consequences for Vienna and left traces in the pathological anatomical collection, are available, but cannot be discussed in detail here (see, among others, [22, 23]).

Weichselbaum’s successors, Alexander Kolisko and Heinrich Albrecht, were also reported to have not continued the museum catalogue in the period “before and after the First World War,” which probably corresponds to a lack of interest in the collection [10], but possibly also to their only 2‑year term of curatorship (Kolisko 1916–1918; Albrecht 1920–1922).

It was not until the 1920s that Rudolf Maresch (1868–1936), an expert in endocrinology and who was more interested in the collection, was appointed as director. He improved the institutional structure and fabricated additional histological reports of numerous objects of the collection. Hermann Chiari (1897–1969), already assistant at the Pathological-Anatomical Institute from 1926 onward, was full professor in the National Socialist era and afterwards (1936–1969); he focused strongly on pathological morphology and histopathology. His role as a Wehrmacht pathologist between 1938 and 1945 is still insufficiently analyzed.

After Chiari, Heinrich Holzner (1924–2013) became full professor of the institute, a position he held for more than 20 years (1969–1993). Holzner realized that a renewal of the institution and the museum was necessary, that it was in a perilous state and had to struggle with a major space problem. The valuable collection of specimens there had been supervised since 1946 by Karl Alfons Portele (1912–1993), a pathologist already hired by Chiari as curator. Portele’s idea of an administrative separation of the museum from the institute as a solution for the spatial limitedness was supported by Holzner: in 1971, the division was completed with the relocation of the pathologic-anatomical collection to the former Narrenturm in the old General Hospital in Vienna; here 25 renovated rooms (25 “cells”) on the first floor were occupied.

In 1974, the Federal Ministry of Science and Research changed the status of the collection by upgrading it to a federal museum (Federal Pathological-Anatomical Museum in Vienna) with a complete administrative, personnel, and financial autonomy. “Austria was now the only country to have a state museum for medical preparations, and the collection was secured” [9]. At that time, the museum’s inventory amounted to about 14,000 specimens. Portele was known both nationally and internationally for “including every endangered collection.” In the few years of its independent existence, this collection has experienced a significant increase in different object categories (e.g., dry and wet specimens, moulages, medical devices, microbiological and histological specimens, historical wall charts, a photo archive, and anatomical teaching records). Since the 1980s, when many institutions and other stakeholders were unable to guarantee the appropriate care of a collection of pathologically altered human body parts for spatial or financial reasons, the transfer to the Federal Pathological-Anatomical Museum probably offered an alternative depository—committed to ethical principles. Donors/persons in charge and institutions that handed over their collections are listed below (see [9]).

Infobox 2 Acquired Collections and donors (in parentheses = year of accession)

• Leopold Arzt and Wilhelm Kerl, Allgemeines Krankenhaus, Universitäts-Hautklinik, Vienna (1976; soft tissue impressions, moulages)

• Gerhart Alth, Krankenhaus Lainz, Radiotherapy, Vienna

• Hans Asperger, Allgemeines Krankenhaus, Department of Pediatry, Vienna

• Heinz Flamm, Universität Wien, Institute for Hygiene, Vienna

• Hugo Husslein, Allgemeines Krankenhaus, Gynecology II, Vienna

• Rudolf Langer, Landesklinikum Mistelbach, ENT Department, Mistelbach

• Karl Lebeda, Tierseucheninstitut, Mödling

• Rudolf Niederhuemer, Technisches Museum, Vienna

• Otto Novotny, Allgemeines Krankenhaus, ENT Department, Vienna

• Franz Pötsch, BA für Impfstoffgewinnung, Vienna

• Josef Söltz-Szöts, Krankenhaus Rudolfstiftung, Dermatology Vienna

• Peter Wurnig, Mautner-Markhof Kinderspital, Surgery Vienna

• Karl und Theodor Henning (soft tissue impressions, moulages)

• Veterinary/zoological private collection Fritz Kincel (transferred to the zoological department of the NHM)

• Collection of the University of Vienna, Anatomical Institute (Hyrtl-Sammlung), Vienna

• Collection Krankenhaus Wieden, Vienna (1975)

• Collection Krankenhaus Rudolfstiftung, Vienna (1977)

• Collection Krankenhaus Wilhelminenspital, Vienna (1978)

• Collection Krankenhaus Lainz, Vienna (Kaiser-Jubiläum-Spital; 1974)

• Collection Landeskrankenhaus Graz, Institute for Pathology, Graz (until 1983)

• Collection Uni-Klinikum Bonn, Institute for Pathology, Germany (1992)

• Collection Klinikum der Stadt Wuppertal (preparations originate from hospitalis in Barmen and Ferdinand-Sauerbruch-Klinikum), Germany (1985)

• Collection Krankenhaus Hamburg-Harburg, Germany (1987 and 1998)

• Collection Innsbruck

• Collection Kaiserin-Elisabeth-Spital, Vienna (1994)

• Collection Kaiser-Franz-Josef-Spital, Vienna (1960)

• Collection Unfallkrankenhaus Meidling, Vienna

• Collection der Ignaz-Semmelweis-Frauenklinik, Vienna

• Collection Haus der Natur, Salzburg

• Collection Krankenhaus Sozialmedizinisches Zentrum Baumgartner Höhe, Vienna

• Collection Magistrat der Stadt Vienna, MA 60 – Veterinärdienste und Tierschutz, Vienna

In the course of a legal amendment created in 1998, all federal museums, scientific institutions under public law, were released between 1999 and 2003 in full legal capacity. Only the Federal Pathological-Anatomical Museum remained a subordinate department of the Ministry of Education due to its small size, which contradicted the transformation to a fully legally competent, own scientific institution. In autumn 2011, the collection was incorporated into the “Scientific Institution Natural History Museum Vienna” (wissenschaftliche Anstalt Naturhistorisches Museum Wien) by federal law (Budgetbegleitgesetz 2012, BGBl. I Nr. 112/2011) and internally associated with the Anthropological Department.

Today, the pathological anatomical collection comprises

• approximately 10,500 maceration specimens, body stones, skeletons, partial skeletons, and skulls (also from archaeological contexts),

• approximately 36,000 wet specimens,

• approximately 4500 moulages (wax casts of pathologically altered body parts, which were made by Karl and Theodor Henning, Otto Helm, Maximilian Blaha, Dr. Ziegler, P. E. Habetin, among others, to convey the course of the disease as “directly” readable),

• approximately 150,000 histological slides,

• approximately 6500 medical devices and instruments,

• large archive holdings (e.g., autopsy findings since Biermayer’s time; historical teaching boards and posters, photographs [prints and negatives]).

Material and methods

Literature search

In order to understand how the pathological anatomical collection was used for scientific progress, keywords (including former terms used and/or their acronyms) such as “Pathologisch-anatomisches Museum,” “FPAM” (“Federal Anatomical-Pathological Museum”), “PaBM” (“Pathologisch-anatomisches Bundesmuseum”), “PASiN” (“Pathologisch-Anatomische Sammlung im Narrenturm”), “Narrenturm,” “Fools Tower” in English, or “Pathological Anatomical Collection Vienna” were entered into search engines such as the Web of Science (Reuter) or Google Scholar as well as into the repository of the MedUni Vienna3. PASW (Pathologisch-anatomische Sammlung Wien) is only defined as ordinary acronym now. In addition, papers that were provided by the authors to the collection curator were also included in our reference review. About 20 scientific papers published as articles in journals and two textbooks [9, 24] directly refer to specific specimens curated at the pathological anatomical collection. The latter are oriented towards collection history [9] and to communicate propaedeutics of pathology with different perspectives and research [24].

Object database of PASW collection

Initially, the specimens of the pathological anatomical collection Vienna (PASW) were recorded in a handwritten catalogue. More recently, a digital database was created in which all objects are documented in detail. This contains basic information such as the actual museal number (by including a reference to former collections), the organ, the type of preparation (e.g., wet specimen, dry preparation, moulages), sex and age of the deceased, and the diagnosis based on the (cross-referenced) autopsy report. The dataset also comprises the donators or institutional provenance of a specimen and the location in the collection. Any use of a specimen in a research project and available mages (photographs, X‑rays, or CT scans) are noted as well. The database is continuously updated in order to be able to access all relevant data digitally.

Classification scheme

We decided to arrange the results according to the WHO classification scheme ICD-10 of the International Statistical Classification of Diseases and Related Health Problems (WHO, [25])4. Albeit, there is some overlapping, especially with regard to lethal causes; the application of a standardized system allows more systematic comparisons.

Results

Based on the digital database, we first want to reveal when and how often which specimen of the collection has been used for medical or palaeopathological research purposes and which methods were applied in the process. Second, arranged according to the ICD-10 system, we will discuss in more detail the objects and groups of diseases that have been used for scientific purposes to date and address the potential for further pathological research and beyond (Figs. 1 and 2).

Fig. 1.

Number of investigated objects in each ICD-10 class (data 29.07.2021)

Fig. 2.

Number of used methodologies (data 29.07.2021). Comparison collection vs. ICD 10 statistics Austria/WHO

ICD 10-I Infectious diseases

Cross-organ infections are illustrated by numerous specimens. Among them are examples of individual organs that were pathologically altered by diverse pathogens. Some of these cases can be linked to historical epidemics, for example tuberculosis. Tuberculosis, caused by Mycobacterium tuberculosis, was known as “Morbus Viennensis” (Viennese disease) from the middle of the 18th century because of its almost endemic occurrence in Vienna. In 1811, 758 of 12,374 patients died of tuberculosis in the General Hospital. In 1815, 2859 of 11,520 deaths were attributed to tuberculosis. Pavement dust and even “waltz dancing” during the Congress of Vienna (1814–1815) were considered causes of tuberculosis—the latter is not at all illogical, considering the path of a tuberculosis infection which is a disease transmitted by airborne infection and favored by population density. The pathological anatomical collection includes a large number of wet and dry specimens of tuberculosis. Sedivy [24] describes, for example, the tuberculosis of a kidney, as well as a specimen of a baby who suffered from pulmonary tuberculosis after being infected by the mother during pregnancy. There are also many examples of advanced bone and joint tuberculosis [26] preserved at the collection, e.g., of spinal tuberculosis (classical Pott’s disease), ankylosis of the sacroiliac joint, the knee, shoulder, and elbow joints, and ankle and tarsal bones that were used for education [27] or research [28].

Carl Rokitansky examined typhus or typhoid fever caused by the bacterium Salmonella typhi in a study and therefore created a firm pathological anatomical basis around the middle of the 19th century. A disease that concerns several organs, the gastrointestinal tract (liver, gallbladder, spleen), kidneys, lungs, and muscles. After it was recognized that the disease was based on the transmission of typhus germs by food, contact with an infected individual, or—most frequently—water, one of the political measures was the construction of the first Vienna mountain-spring pipeline (1870–1873), which significantly reduced the incidence of the disease. Sedivy [24] selected two specimens of small intestine sections in the collection archived as Typhus abdominalis for a histomorphological study; in doing so, he was able to identify different stages of cellular changes in the two sections and to verify the prior diagnosis.

At the beginning of the 1830s, a previously unknown, new epidemic—cholera—emerged in Europe. It is caused by bacterial infection (Vibrio cholerae); symptoms of this disease include diarrhea which may lead to severe dehydration and—in the worst case—even death within a very short time. The epidemic reached Vienna in mid-August 1831. It did not seem to subside completely until spring 1832, when a second wave of the epidemic hit Vienna and kept the city in suspense until September. Almost every 50th person came down with cholera and every 100th person died (original handwritten case reports by Rokitansky). The most significant examples of organ changes caused by cholera are implemented in the redesigned exhibition to illustrate, among other things, infection paths, preventive measures, and the medical, demographic, and socioeconomic consequences, and have been used to address numerous scientific questions.

ICD-10-II Neoplasms

All organs can be affected by cancer, defined as uncontrolled growth of cells, partly spreading out into other organs. When screening the PASW, for all assessed organs, cancerogenic mutations and histological changes can be detected [24] and also represent one of the more intensely studied diseases (Fig. 1). The increasing knowledge about the different causes of cancer also supports research on our early ancestors, for instance when cancer allows conclusions about nutritional status, working conditions, or exposure to chemical toxins [29].

Exhibits already served early as objects to study the origin and impact of cancer. To quote as an example the Erdheim brain tumor in the collection, Joseph Engels delivered with his dissertation in 1839 groundbreaking research when he investigated the pituitary gland and the tumors of its infundibula, which he related to neurological disorders; in 1904 Jakob Erdheim specified the tumor as an hypophyseal duct tumor of which the valid name is currently craniopharyngioma [30]. Using the same specimens for case studies, it could be shown that more sophisticated techniques such as CT scans increased the understanding of the disease [31]. Within the last 10 years, it has also been shown that genetic methods can provide very promising evidence on historical specimens, even organic wet specimens made as early as in the 19th century; this approach supports molecular pathology and leads to increasingly exact diagnoses [32]—some kind of “retro-specification.” The careful analysis of organs in conjunction with the documentation of cases and diagnosis is important for general understanding and the development of classifications. By using pathologically altered pancreas (often based on carcinoma), Sedivy [33] could impressively demonstrate that the development of more sophisticated histopathological and immunohistochemical methods helped to establish modern diagnostic systems [33].

Hodgkin disease, also known as Hodgkin lymphoma or lymphogranulomatosis, is a malignant disease of the lymphatic system. The disease usually starts in lymph nodes in the neck region and spreads via the lymph nodes in the chest to the lymph nodes in the abdomen and the spleen. The collection includes a specimen of a spleen that is clearly enlarged and bulge like due to Hodgkin disease [24]. Multiple myeloma is an example of a non-Hodgkin lymphoma and is caused by the degeneration of a plasma cell. Clones spread in the bone marrow and can lead to numerous tumor foci. In a publication by Jellinek (1904, S. Jellinek, Virchows Archiv 177,p. 96–p. 133), the entire skeleton of a patient with multiple myeloma was described in detail. It was possible to show the effects of the disease on the condition of the bone substance, which is characterized by disseminated scalloped lytic lesions of varying size. The process starts in the bone marrow and ultimately destroys the cortex [26].

ICD 10—III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Diseases of the blood and blood-forming organs include various anemias, coagulopathies, and other diseases. In the collection, one specimen of a frosted spleen (Zuckergussmilz; perisplenitis pseudocartilaginea) was described in more detail by Sedivy [24]. It looks glassy due to proteins which form extracellularly deposited connective tissue, hyaline.

ICD-10 IV Endocrine, nutritional, and metabolic diseases

Metabolic diseases start at the cellular level where energy and mass transport are hampered, and manifest in different organs. Frequent diseases are diabetes mellitus, thyroid gland dysfunction, gout, and mucoviscidosis. While diabetes, thyroid gland dysfunction, and gout can be partly linked to nutrition, mucoviscidosis or Smith–Lemli–Opitz syndrome (SLOS) have a genetic basis.

Key organs for metabolism are liver and gallbladder, spleen and pancreas, and kidney, as well as stomach and intestine. A rather seldom but impactful metabolic disease is the abovementioned SLOS, an autosomal recessive inherited congenital disorder associated with a highly variable phenotypic appearance, where due to a low performance of the enzyme 7‑dehydrocholesterol-reductase, cholesterol is not synthesized in an adequate quantity. As cholesterol is a key component for all cell membranes and enzymes, lacking cholesterol leads to severe impacts ranging from microcephaly, polysyndactyly, hypospadias, and intellectual disability up to holoprosencephaly (HPE), an incomplete separation of the two brain hemispheres, which can lead to cyclopic faces. A lower concentration of cholesterol could be demonstrated for the 10% formaldehyde preservation liquid of a fetus of the PASW which was suspected to have SLOS due to polydactyly [34]. This research aims to contribute to prenatal SLOS syndrome ultrasound diagnostic.

Two specimens on calcified thyroids were used to compare the symptoms with an archaeological finding [35].

ICD 10—VI Diseases of the nervous system

In addition to the numerous cerebral tumors archived in the collection, there are also specimens of cerebral infarcts caused by an inadequate blood flow, vascular occlusion, or other causes. The effect may be dystrophy or necrosis of brain tissue. Based on the type of cerebral infarction (stroke), a red form (hemorrhagic infarction = bleeding in the brain) and a white form (ischemic infarction = sudden reduced blood flow to the brain, often resulting in dead neuronal tissue) are distinguished. There is one specimen from 1953 mentioned by Sedivy [24] belonging to this class, encephalomalacia (rubra et alba), cerebral softening.

ICD 10—VIII Diseases of the ear and mastoid process

There is one specimen investigated falling into this class, the tumor nervi acustici published by Sedivy [24] following the original description. A review by Pascual [30] revealed that Jakob Erdheim “redefined this lesion as a hypophyseal duct tumour (craniopharyngioma) in his 1904 monograph” [30], which indicates that this specimen belongs in the current classification to the ICD II class (D 44.4).

ICD 10—IX Diseases of the circulatory system

There is no deeper research on this type of specimen; they have mainly been used by Sedivy [24] to illustrate and support the diagnostic analysis. However, the collection includes a very interesting and rare case of a vertebral column facing erosions and abnormal vascular groves ventrally due to a long-standing saccular dilatation of the aorta. In this case an aortic aneurysm, probably of arteriosclerotic nature is assumed [27]. Because soil-embedded (pre)historical human skeletal remains are frequently affected by a range of taphonomic changes, making the diagnosis difficult, well-documented comparative examples are invaluable to evolutionary biologists interested in the history of disease.

ICD 10—X Diseases of the respiratory system

Diseases of the respiratory system refer to influenza, pneumonia, bronchitis, and other acute infections. There are several specimens of organ tuberculosis stored at the PASW, one specimen facing pulmonary tuberculosis was screened by Sedivy [24] (for the subcollection of extra-pulmonic cases of bone and joint tuberculosis, see section “ICD 10‑I Infectious diseases”). Other examples of diseases manifested in the respiratory system and reported by Sedivy [24] include cases of tracheitis (originating in diphtheria), fibrosis, carcinoma, chondroma, or are caused by external impacts such as respirable dust (Staublungen, silicosis, asbestosis, etc.).

ICD 10—XI Diseases of the digestive system

The digestive system comprises all organs linked to digestion starting with the oral cavity and jaws, via the stomach to the intestines, including organs such as liver, salivary glands, or gallbladder. There are some specimens screened by Sedivy [24]. One of the older specimens is an esophagus from 1896, an esophageal pouch, which was descriebed as a diverticulum oesophagi by Rokitansky.

ICD 10—XII Diseases of the skin and subcutaneous tissue

Diseases of the skin are mainly depicted by moulages, which are models from wax, elastin, or other material to show the features of the diseases. The oldest object in the moulage collection of the PASW was added to the catalogue in 1843. We can see an impression of a man whose lower jaw was missing due to external violence; the specimen currently belongs to ICD IXI. For the time being, the collection comprises about 2700 moulages, the majority were made by the Viennese moulage artists Karl Henning and his son Theodor, who signed their work [36].

Sedivy [24] described “Spiegler a,” the dermal cylindroma, which is a tumor of skin appendages and belongs to the neoplasms (section “ICD-10-II Neoplasms”).

ICD 10—XIII Diseases of the musculoskeletal system and connective tissue

The PASW is well known by the scientific community for its amazing subcollection of macerated, pathologically altered macrospecimens of human skeletons and isolated bones [8, 26, 27]. Two well-represented diseases of the musculoskeletal system—Paget’s disease of bone and vitamin D deficiency—are to be presented in the following as examples.

Paget’s disease (synonym: osteitis deformans Paget) is a chronic, slowly progressing metabolic bone disease and—in macroscopic view—characterized by an abnormal increase in bone mass associated with a mechanically inferior quality. It may concern one or more skeletal parts, most often the pelvic bone, the vertebral column, long bones, and the skull. The disease begins with an increased activity of the osteoclasts, i.e., an excessive resorption of bone substance, which is then followed by a bone deposit that is structurally less organized and weaker than normal bone [37, 38]. The cause of the disease is unknown; genetic, viral, and environmental influences are discussed. In the long term, Paget’s disease may lead to complications such as osteoarthritis, skeletal deformities, and fractures. At the PASW are more than 50 affected bones, isolated long bones, and crania stored, which represent progressed or late stages of osteitis deformans Paget given their deformity and porous structure. Nebot Valenzuela and Pietschmann (2017) [38] selected a few of them to review the epidemiology, etiology, pathology, macrostructure, histology, and quantitative histomorphometry of Paget’s disease and observed hyperosteoclastosis and poor definition of the boundary between cortical and medullary bone by the histological approach. This diagnostically important criterium of hyperactivity of the osteoclasts was also identified by Sedivy [24]. Additionally, Pagetic bone is also characterized by hypertrophy and alteration of trabecular parameters. In a further study, Nebot Valenzuela et al. (2019) [39] compared the microstructure of bones with and without Paget’s disease using an X‑ray-based µCT scanner. They could not only confirm the higher porosity at the microstructural level by the use of this approach, but also that the femoral heads and tibial condyles were thickened due to increased trabecularization—important findings of relevance for diagnostic purposes.

Bone as a dynamic tissue ensures not only the mechanical integrity of the body, but is also involved in the homeostasis of minerals [40]; for further references see [41]. The sustainability of metabolic processes requires a specific mineral salt concentration which is controlled and regulated by vitamins and hormones. An irregularity of one of these factors, e.g., caused by malnutrition, impaired organ functions, renal and liver diseases, disturbed metabolism, or a combination of these causes, may lead to an impairment of bone tissue-associated organs. In this complex process, vitamin D plays a central role for the mineralization of the organic bone matrix (osteoid tissue), which requires a constant calcium and phosphorus level. If vitamin D is lacking, the calcium transfer to the bone is reduced. Depending on the onset of the disease, the pathological process will result in bone alterations such as rickets in adolescents or osteomalacia in older adults.

Rickets is characterized by deformities of weightbearing long bones, pelvic bones, and the vertebral column; a short stature and widening of joints are consequences of an irregular growth plate development. In older osteomalacic individuals, fractures can often be observed [41, 42]. For a convincing diagnosis of these diseases, it was until quite recently obligatory to extract bone biopsies for histological examination of the microarchitectural trabecular structure and its quality. In 2003, the first application of µCT in the evaluation of trabecular architecture of vertebral bodies that were taken from individuals affected by osteomalacia (the diagnosis was stated in the case history) was introduced to prove the suitability of this approach. For that purpose, specimens hosted at the pathological anatomical collection were used to identify disturbed mineralization [43]. The comparison of the metric dimensions and indices obtained by µCT inspection with the results obtained by light microscopical histological undecalcified ground sections not only successfully showed that µCT can be successfully applied to report structural properties of the trabecular network and alterations resulting from disordered mineralization, but it also illustrated the potential of medicohistorical collections in the current medical and palaeopathological research field [43, 44].

ICD 10—XIV Diseases of the genitourinary system

A specific asset of the PASW is the collection of body stones. They are important diagnostic indicators for a variety of diseases—often linked to the lifestyle of the affected persons. Body stones are classified on the basis of their chemical composition and as well as according to their localization, for instance rather frequently in the bile or bile duct [45].

ICD 10—XVI Certain conditions originating in the perinatal period

As birth was and is one of the key processes in human live, scientists investigated low-risk reconditions early on. In an important work, Carl Breuss und Alexander Kolisko described and classified pelvic deformities, referring also to 67 specimens from PASW [46].

ICD 10—XVII Congenital malformations, deformations, and chromosomal abnormalities

Congenital malformations refer to diseases originating in the prenatal period. They can involve many different parts of the body, including the brain, heart, lungs, liver, bones, the intestinal tract, and the skeletal system. Congenital malformations can be inherited or caused by environmental factors and their impact on a child’s health and development can vary from mild to severe. A child with a congenital disorder may experience a disability or health problems throughout life.

At the PASW, several specimens of a variety of developmental defects (e.g., conjoined twins, currently systematically clustered [47]) according to their neoaxial orientation and the nonformation of organs (aplasia) or genetic skeletal or bone malformations [48, 49].

Most of the severe genetic malformations were not compatible with survival, but there are also milder forms represented, such as those resulting from enzymatic defects. Some of these syndromes can be survived for several years and are therefore appealing for differential diagnosis as well as therapeutic interest. For instance, Pumberger [50] explored to what extent magnetic resonance imaging (MRI) can support the diagnosis of liver malformation in fetuses.

The archived specimens are in any case best-suited and precious objects for scientifically based causal genetic studies and the course of a disease without having been appropriately medicated. Here we refer to mucopolysaccharidosis, a type of a rare malformation syndrome.

Mucopolysaccharidoses (MPS) are a group of inherited diseases (X-chromosomal or autosomal recessive) in which a defective or missing enzyme (lysosomal hydrolases) causes large amounts of complex carbohydrates (acidic mucopolysaccharides or glycosaminoglycans); these mucopolysaccharides accumulate in the lysosomes of the cells and tissues where they cause permanent, progressive cellular damage. As MPS composes the cartilage matrix, a faulty cartilage structure leads to various functional and morphological defects: besides mental retardation and organomegaly, multiple skeletal dysplasias are common [27]. Among others, macrocephaly or scaphocephaly, frontal bossing, and facial dysmorphia with large mandible and wide interorbital breadth are often observed [51]. A varying severity of dysostosis multiplex is the general bony manifestation of MPS, but a special appearance may occur in particular types of the MPS (it includes seven types and several subtypes: IH = Hurler–Pfaundler syndrome, IS = Scheie syndrome, IH/S = Hurler/Scheie syndrome, II = Hunter syndrome, III = Sanfilippo syndrome, IV = Morquio syndrome, V = now: type IS, VI = Maroteaux–Lamy syndrome, VII = Sly syndrome); disproportionate dwarfism with severe osteoarticular deformities, platyspondylia, irregularly shaped metaphysis of the long bones, metacarpals (proximal end tapered), and phalanges (distally tapered, often referred to as bullet-shaped) are regularly observed. Although lysosomal storage diseases are rare individually, the estimated incidence of all types of mucopolysaccharidosis disorders combined is 1 in 20,000 live births. Poorthuis [52] reported an incidence of 4.5 cases per 100,000 live births for all mucopolysaccharidosis disorders in the Netherlands. Many types have a progressive process with a devastating prognosis. Over time, patients develop central nervous system (CNS) degeneration and progression to a vegetative state. Death usually occurs before age 20 years, primarily from cardiopulmonary arrest due to airway obstruction and/or pulmonary infection [53].

ICD10—XIX Injury, poisoning, and certain other consequences of external causes

In addition to various diseases such as tumors or infectious diseases, the collection also includes specimens from poisoning and trauma; in principle, such cases would have to be addressed as forensic medical cases. In Vienna, however, forensic medicine was part of the pathological anatomy until 1875—a fact also reflected in the collection. Accordingly, these specimens are particularly interesting from a sociohistorical point of view as they can shed light on working conditions, e.g., in the period of industrialization as well as the development of preventive measures and protective equipment. The relation between diseases and work processes that involved handling certain chemicals or other substances now classified as hazardous to health (e.g., asbestos, X‑rays) was not recognized until the end of the 19th century (e.g., asbestosis). A variety of (anamnestically well documented) specimens housed at the pathologic-anatomical collection have proven their worth as comparative objects, for example, in the context of determining causes of death.

At the PASW there are a large number of specimens with different bone injuries, including perimortem skull injuries [27], well-healed fractures, or fractures showing complications such as nonunion bones or bone dislocations (e.g., acetabulum formation [27, 54]), and trauma during birth (e.g., ossified hematoma [27]). Such specimens are valued in the field of paleopathology as comparative objects for the identification of injuries or the reconstruction of an injury and healing process in (pre)historical human skeletal remains, which have often been strongly altered by taphonomic processes [55].

Reference for paleopathological research questions

Paleopathology is concerned with the analysis of the nature and frequency of disease- and injury-related lesions on human skeletal or mummified body remains from prehistoric and historic times. Although this subfield of bioanthropology has a long history [56], paleopathology, as a young, dynamic discipline, has been able to make excellent progress over the past 40 years along methodological innovations and continuously improving techniques, establishing itself as an important meaningful branch of research in our discipline.

Paleopathology, like pathology, seeks to make a diagnostic statement on the basis of individual phenomena (symptoms) or symptom associations (syndromes) and—if possible—to record the course of the disease and healing process, the impairments to the quality of life, as well as therapeutic interventions. Since disease can be understood as a process of complex interaction between, among other things, individual disposition and different natural and sociocultural environments, paleopathology looks for evidence and traces in prehistoric human relicts. It reflects the close interaction people have had with their environments and how this relationship has impacted their health [56].

Furthermore, researching the history of diseases, their cause, and course, is also of immense importance for understanding the biological evolution of our own species. Written records, which could be confirmed and supplemented by new essential research findings, proved, e.g., epidemiological events with dramatic demographic consequences for population development. Today we know, for example, that the medieval plague pandemic in Europe (around 1350) claimed an estimated 25 million lives [57]. In order to verify such dramatic events and to reconstruct the history of diseases in an evidence-based manner, experience in the assessment of tissue changes is required, which is often based on anamnestically documented and classified specimens, as they are available in many pathological anatomical collections worldwide.

During the past 40 years, the scientific interest of paleopathologists as well as of physicians in objects of this kind has continuously increased, despite some critical concerns based on the fact of their nature—human bodily remains—and the historical collecting and acquisition strategies, which did not meet all our current ethical views and standards. Interestingly, the former director of the PASW, Alfons Portele, stated already in 1982, that the dry osteological specimens kept at the PASW, continuously expanded by him through the integration of “otherwise lost” hospital and private collections, “will gain importance for medical research through the ever-increasing subject of paleopathology”. This interest in such a collection is most likely linked to the concurrent technical innovations and methodological approaches (that include, e.g., a variety of histological, µCT, and SEM [SE- and BSE-mode] techniques, geometric morphometrics, and 3D reconstructions) which opened the window not only for answering current research questions but also for diagnostic purposes and clinical use as well. New methodologies are also developed to understand phenomena already present in the neolithicum, such as hydrocephalus [58].

Especially the progress in aDNA (ancient DNA) analysis should be mentioned here, as it allows the extraction of complete genome data from historical, archaeological findings, from macerated skeletons, from wet specimens, and even from body stones, and, thus, enables reliable diagnosis of metabolic diseases, neoplasms, or infectious diseases. It is now possible to identify not only the species of microbial organisms, such as viral and bacterial pathogens, but also their origin, interactions (e.g., tuberculosis, leprosy), and rate of mutation through ancient time (e.g., [59]). This research field, which often uses the potential of pathological anatomical collections as a source for the extraction of pathogenic DNA, is significant to uncover and to better understand current epidemiological events and other diseases. Presumably, this is not the endpoint of the promising DNA approach: by taking the rapidly increasing number of papers dealing with microbiome research into account, we expect further insights into human health and disease in the upcoming years.

Discussion

In this review, we give an overview of the history of the collection of the PASW, with more than 50,000 specimens, and research based on these specimens. We discuss methodological aspects of the data basis as well as added value for medical research. We address ethical issues and develop a perspective for the further growth, accessibility, and usability of the collection.

Methodological remarks

We assume that for several reasons, our data with regards to publications are not complete. One reason lies in the object database of the PASW itself. While all curators aimed to link all publications on specimens to the objects, some publications came later or were not sent at all by the authors. The other source are literature databases or the full-text research, if possible. However, not all the authors refer to the collection in a specific manner or they ignored the object numbers. Cases were published without indicating the corresponding inventory numbers. This fact makes the statistical analysis of these publications difficult. One example are the specimens examined by Pumberger [50]: “Nineteen specimens from a total of 34 fetuses with complex abdominal wall defects, preserved in the embryologic collection of the Federal Museum of Pathologic Anatomy (Vienna), were selected for examination by MRI [magnetic resonance imaging].”

We will overcome this problem in the future by establishing PASW as the unequivocal name of the collection, and by establishing permanent identifiers (PIDs) for each object using QR codes.

Another difficulty is the categorization of the diseases. We decided to use the WHO system ICD 10 for International Statistical Classification of Diseases and Related Health Problems, and not ICD 11 for Mortality and Morbidity Statistics, as the various papers were focusing on diseases and not mortality. Autopsy reports, however, revealed that people may have had different diseases. However, as with every classification system, there are overlaps, and some especially historical reports are difficult to match with modern medical terminology. Nevertheless, the classification system helped us to organize the papers in a readable and structured manner.

The relevance of the PASW for historical, current, and future research

The development of medical research is mirrored in the publications written on the basis of the PASW. The collection was established to become able to describe anatomical changes of organs in relationship to diseases and use them as demonstration objects in the formation of doctors.

The development of new technical facilities such as microscopes allowed more detailed views not only of the macrostructure of organs but also of the microstructure. Especially Rokitanksy developed the area further and established micropathology in a new approach. This allowed him to describe diseases in a process-based manner. Having historical specimens and modern technologies, such as genetics or microcomputed tomography, new insights could be gained. For instance, tuberculosis played an important role in the mortality of the Viennese population. With lungs now being reinvestigated using modern molecular genetics, it can be revealed whether the bacteria were endemic to Vienna or reimported by travelers.

Another big contribution of PASW was to allow a more systematic approach to clustering and ordering diseases [24]. This helped to structure diagnoses and to support the development of therapies. Accordingly, the use of authentic and also historic objects for research is important to understand the development of modern pathological systematics and how modern methods enlarged our understanding of visible changes in organs such as the pancreas [33] or pituitary glands [30], which can impact the whole human and inhibit normal growth and development.

However, there are also gaps in the collection as there was never a systematic collection strategy. Most of the objects were donations from hospitals, and depend on the interests of the curators, specific parts of the collection grew. Although in some perspectives that is an advantage, as not all scientific questions and demands can be foreseen, it is also a shortcoming, as for specific diseases, no or only few objects are present.

Current research has two clear foci on understanding the evolution of diseases. Evolutionary medicine currently provides a deeper understanding of processes and the trade-offs, linked to the genetic basis of diseases as genetics plays a role in nearly all diseases. Variations in human DNA and individual differences in how that DNA is expressed depending on lifestyle and environmental factors such as nutrition impact disease processes [60]. The greater awareness of the genetic basis was also visible in the language, as [61] analyses in her review. While the heredity of specific traits was rather easily visible, population genetics and evolution are more difficult to fetch. All the genetic data linked with functional traits and familial or ethnic histories provide a valuable resource for individual medicine [62]. However, as also Benton et al. [62] stress, environmental conditions play a crucial role.

Ethical aspects

A recent guideline published by the German Museum Association highlights two ethical principles next to the careful and respectful handling of the specimens; first, there must be some kind of mutual agreement to collect, prepare, research, and exhibit the preservations, i.e., human remains, and second a utilitarian one, promising added value for the whole society, mainly by their value for research [63].

The first aspect refers to the origin of the specimens. The law in Austria is different to that in most other countries. While in Austria autopsies are allowed and the organs can be stored if the patient or the family of the dead person does not intervene, in other countries a more active behavior in order to receive bodies is expected. While the mutual agreement is currently documented by contracts between the person or his/her family, in former times it was an imperial law enacted by Emperor Franz II./I. in 1811, which not only allowed but made it more or less mandatory for doctors to collect interesting specimens for teaching and scientific purposes. It also regulated the founding of so-called pathological cabinets to store and exhibit these specimens. This law was the outcome of a process started by Gerard van Swieten in the 18th century to establish pathological anatomical collections to be used in teaching medical students.

Ethics also comprised respectful treatment of the collection [64]. This refers to the physical treatment of the preservations as well as their exhibition to different publics, for instance students or museum visitors. While Rokitansky had to dispose of some specimens due to their bad condition, there has been some progress in storage methodologies (e.g., [65]) and the danger that parts of the collection have to be thrown away is much reduced.

Ethics also refers to the origin of the specimens. For each case, provenience research is done and visible also in claims such as: [50] “The exhibits had been collected between 1840 and 1999; none of the specimens originated from the period of Austrian Fascism (1934 through 1938) or from the years of the Nazi regime in Germany and Austria (1938 through 1945) or in the Senate project of the University of Vienna (Angetter, 1998).”

Conclusion

New specimens for the PASW are rare, but new diseases appear: Ebola, SARS, or, last but not least, COVID 19. A collection strategy should be developed and new specimens acquired in order to fill the gaps and to save material for future analysis. With regard to COVID 19, it became clear very rapidly that it was not just a lung disease but that other organs such as the heart [66] or kidney [67] are affected. With fast progress in medicine, reference material may be revisited some years later, as is also done currently with specimens from the collections.

With personalized medicine as a new trend, it should be taken care that the collection is representative according to larger characteristics such as gender or blood group.

Based on a careful ethical discussion, the specimen should become much more accessible to medical and evolutionary research. The basic information should be made available in a fair way. The Natural History Museum Vienna (NHMW) is currently developing a coherent database for all collections, with specific interfaces to different publics. In addition, specific specimens should be made available digitally [68]. All specimens should receive permanent persistent identifiers, marked at the object (label) with a QR code.

The collection has already helped to understand diseases, their origin, manifestation, and promote better cure. Facing new insights based on evolutionary medicine, it becomes apparent that authentic physical specimens will continue to play a major role in our understanding of disease and health.

Conflict of interest

E. Winter, M. Teschler-Nicola, K. Macfelda, and K. Vohland declare that they have no competing interests.