Consensus nomenclature and abbreviation for anti-synthetase syndrome: an IMACS project

Abstract

Objectives

The lack of uniform terminology and abbreviations for anti-synthetase syndrome has led to significant challenges in research and clinical practice. This study aimed to establish an international consensus on a standardized nomenclature and abbreviation among a diverse group of global myositis experts and patient representatives.

Methods

This qualitative project was approved by the International Myositis Assessment and Clinical Studies Group (IMACS). Based on the outcomes of a literature review and preliminary survey, list of terms for nomenclature and abbreviations was finalized. Subsequently, two rounds of the Delphi survey were conducted among myositis experts and patient participants to ascertain current practices and preferences. Using Nominal Group Technique (NGT), the project steering committee developed a consensus nomenclature and abbreviation.

Results

A total of 241 and 132 myositis experts from six continents, 35 countries and 9 specialities participated in round 1 and round 2 of the Delphi survey, respectively. The results indicated a preference for the terms anti-synthetase syndrome, antisynthetase syndrome and anti-tRNA synthetase syndrome. The abbreviations ASS, ASyS and ASSD were most used, though ASS received notable disapproval. The steering committee, including twenty-five myositis experts and three patient representatives from diverse backgrounds and geographical locations, reached a consensus on ‘anti-synthetase syndrome’ as the preferred nomenclature and ASyS as the preferred abbreviation, with 100% and 93.1% votes, respectively.

Conclusion

The terms anti-synthetase syndrome and ASyS should be adopted as the standard nomenclature and abbreviation in both research and clinical practice. This standardization is expected to increase consistency within the literature.

Rheumatology key messages.

• Anti-synthetase syndrome is the consensus nomenclature for this systemic autoimmune condition.

• ASyS is the preferred abbreviation, ensuring clarity and reducing potential misinterpretation.

• Consensus promotes clarity, consistency and global collaboration in clinical and research settings.

Introduction

Anti-synthetase syndrome is a systemic autoimmune rheumatic disease (SARD) characterized by the presence of anti-aminoacyl t-RNA synthetase antibodies. The disease was initially reported by Marguerie et al. in 29 patients presenting with features of myositis, and pulmonary fibrosis with Raynaud’s phenomenon, inflammatory arthritis, sicca features and calcinosis being variably present [1]. This idiopathic inflammatory myopathy (IIM) subset has subsequently been defined as a predominant muscle and lung disease characterized by anti-aminoacyl-tRNA synthetase autoantibody positivity [2]. It is a rapidly evolving field with recent developments in diagnosis, treatment options and management. However, there is a lack of consensus on a standardized nomenclature and abbreviation used for this condition among myositis experts, leading to considerable confusion and hindering progress in the field.

The results from a literature review conducted by Aggarwal et al. [3] highlighted a significant heterogeneity in nomenclature and abbreviation use in literature. Literature published in the last 39 years related to anti-synthetase syndrome was included in this review. Multiple terms describing this condition were identified, including anti-synthetase syndrome, antisynthetase syndrome, anti-synthetase antibody syndrome, anti-tRNA synthetase syndrome, anti-synthetase syndrome overlap myositis, anti-Jo1 syndrome, polymyositis synthetase overlap syndrome and Jo1 anti-synthetase syndrome with no clear preference for any term. Furthermore, terminology use has varied according to geographic region, time and type of publication.

A similar inconsistency is evident in the use of abbreviations. AS was first used by Leugot et al. in 2002 to refer to anti-synthetase syndrome [4]. Other abbreviations that have been used to date include ASS, ASSD, ASyS, ARS, Anti-SS, ASA, anti-SS-OM, anti-ARS and SynS. Among these, ASS has been the most widely adopted globally, whereas AS has been preferred in the United States. However, owing to the polysemantic nature of the abbreviation ASS, there has been a recent shift in usage with preference for terms such as ASyS, ASSD [5–7]. The recent results from the Classification Criteria for Anti-Synthetase Syndrome (CLASS) project have also used ASSD as their preferred abbreviation [8, 9].

These inconsistencies can have a detrimental impact on the field, potentially leading to gaps in scientific understanding, education and research. To address these challenges, we developed a Consensus Group comprising international myositis experts and patient representatives from diverse fields and geography under the International Myositis Assessment and Clinical Studies (IMACS) group. The aim of the study was to review current global practices in the use of nomenclature and abbreviations for this condition and to establish a consensus driven unified name and abbreviation that can be adopted internationally. This standardized approach aims to enhance consistency in future literature and improve the clarity and coherence of research and clinical discussions on this disease.

Methods

This qualitative project was approved by the IMACS group in April 2024 and was developed utilizing the modified Nominal Group Technique (NGT) [10]. It incorporated patient perspectives along with opinion from myositis specialists.

Review of literature and current clinical practices

A scoping review was conducted to identify the nomenclature and abbreviations currently employed in the literature for anti-synthetase syndrome [3]. The search yielded 575 articles, highlighting significant variability in the utilization of terminology. Based on these results, a list of actively used names and abbreviations was developed (Table 1). To further explore clinical practices and preferences, we contacted the corresponding authors of all identified articles and registered physicians within the IMACS network.

Table 1.

List of actively used nomenclature and abbreviations

Nomenclature	Abbreviation
Anti-synthetase syndrome	ASS
Antisynthetase syndrome	AS
Anti-tRNA synthetase syndrome	ASSD
Anti synthetase antibody syndrome	ASyS
Anti synthetases syndrome	ARS
Anti-synthetase syndrome- overlap myositis	Anti-SS
Anti jo1 syndrome	ASA
Polymyositis-synthetase overlap syndrome	Anti-SS-OM
Jo1 antisynthetase syndrome	Anti-ARS/Anti-ARS Syndrome
	SynS

To gather this comprehensive data, a round 1 Delphi survey was employed, gathering information on respondents’ training, clinical experience, practice location, prescription habits and opinions regarding need for standardized nomenclature and abbreviation. The preliminary survey was conducted over a 12-week period, from April to June 2024.

Expert group and patient panel

Based on results of the round 1 survey, physicians with myositis expertise who expressed willingness to participate in the project were invited to join the Expert Group, who then participate in the round 2 Delphi survey.

To incorporate patient perspectives, we collaborated with myositis patient support organizations, including The Myositis Association (TMA), Myositis Support and Understanding (MSU), Myositis Canada and Myositis Australia, among others. The round 2 Delphi survey was distributed to members of these organizations who had been diagnosed with anti-synthetase syndrome. A subset of interested patients was subsequently invited to join the Steering Committee.

The round 2 Delphi survey gathered physician and patient preferences regarding potential nomenclature and abbreviations, along with detailed justifications for or against specific options. It consisted of 11 questions, focusing on the respondents’ top three preferred choices for the nomenclature and abbreviations, unacceptable terms and the reasons for these preferences. This survey round was conducted over a 12-week period, from June to August 2024.

The results from the round 2 survey were analysed by a Core Team consisting of rheumatology fellows and medical students using descriptive statistics.

Steering committee and nominal group technique consensus

The Steering Committee comprised 25 myositis experts from various regions and specialties, including rheumatology, dermatology, neurology and pulmonology as well as three patient representatives to ensure diverse perspectives (Supplementary Fig. S1, available at Rheumatology online). Survey results were presented to the Steering Committee during virtual synchronous meeting conducted on October 2 and October 14, 2024. To facilitate a structured and organized discussion, the Nominal Group Technique (NGT) was implemented with by Dr Rohit Aggarwal leading the NGT discussion and consensus development. This approach enabled the methodological collection of qualitative feedback. Following the discussions, participants voted on their preferred nomenclature and abbreviation, ensuring consideration of all opinions.

A final round of voting by the 28 Steering Committee members determined the preferred nomenclature and abbreviation. Consensus was defined as 70% or more agreement. If consensus was not reached in the initial round of voting, a second voting round was conducted, informed by the initial results. Final decisions were communicated to all steering committee and expert group members via email (Fig. 1).

Figure 1.

Flowchart of the consensus project

Results

Round 1 Delphi survey was circulated amongst corresponding authors of identified articles and registered physicians in the IMACS network. Out of the 620 physicians contacted, 241 physicians (38.8%) responded after two reminders, representing 35 countries covering six continents and nine specialities. The respondents encompassed clinicians with varying levels of expertise, ranging from early career specialists to experienced practitioners in the field. After excluding incomplete and duplicate responses, 175 valid responses were analysed. Nearly 70% perceived the ambiguity in the literature regarding names and abbreviations as a significant concern. Furthermore, 91% expressed the necessity for a consensus-driven approach. Based on the results, we extended invitations to interested physicians with all experience levels to participate in the Expert group.

Preferred nomenclature for anti-synthetase syndrome

Of 156 physicians invited to join the Expert Group and participate in the round 2 survey, 132 completed the survey and represented 28 countries, six continents and nine specialities (Supplementary Fig. S2, available at Rheumatology online). The results revealed that the most preferred nomenclature was anti-synthetase syndrome (57%), followed by antisynthetase syndrome (37%) and anti-tRNA-synthetase syndrome (17%) (Fig. 2).

Figure 2.

Preferred nomenclature and abbreviation in round 2 Delphi Survey

The prominent reasons for these preferences included simplicity and practicality (39%), scientific accuracy (33%) and grammatical clarity (21%). Anti-synthetase syndrome was favoured for being grammatically correct, widely recognized and inclusive, accommodating various clinical manifestations such as myositis, arthritis, interstitial lung disease (ILD) and cutaneous changes. It was also deemed flexible to include future discoveries of new antibodies. Conversely, anti-tRNA-synthetase syndrome was regarded as more comprehensive and self-explanatory, making it a preferred choice among researchers. However, clinicians found it cumbersome and challenging to communicate effectively to patients in routine practice. Table 2 summarizes the reasons behind the preference for each nomenclature.

Table 2.

Reasons for preferred nomenclature

Nomenclature	Reasons for preference
Anti-synthetase syndrome	It is grammatically correct to hyphenate It is easy to use, simple and accurate Encompass diverse clinical presentations and antibody positivity unlike ‘overlap myositis’ or ‘Jo1 syndrome’ Practical for clinical use, unlike lengthy terms such as ‘Anti-tRNA-synthetase syndrome’
Antisynthetase syndrome	Hyphen can be avoided, like ‘antiphospholipid syndrome’, ‘autoantibodies’ Same advantages as ‘anti-synthetase syndrome’
Anti-tRNA synthetase syndrome	Comprehensive, reflecting pathophysiology Accurate but impractical for clinical practice
Others	Terms like ‘Anti-synthetase antibody syndrome’ and ‘myositis anti-synthetase syndrome’ can also be used as the corresponding abbreviations will be ASAS and MASS respectively.

Physicians practicing in non-English speaking regions, such as Japan, Spain, or Portugal, reported fewer ambiguities due to the use of local derivatives of the disease name. However, 73% of the respondents deemed certain names unacceptable. Among the names considered unacceptable, polymyositis-synthetase-overlap syndrome (59%) and anti-synthetase syndrome-overlap myositis (28%) were rejected for inaccuracy since ASyS is distinct from polymyositis and not a part of the overlap-myositis spectrum. Similarly, anti-Jo1 syndrome (41%) and Jo1 anti-synthetase syndrome (40%) were disapproved because they failed to encompass the diverse antibody profiles of ASyS.

Preferred abbreviation for anti-synthetase syndrome

The results from the round 2 survey on preferred abbreviations indicated that ASS was currently the most used abbreviation in practice (40%), followed by ASyS (31%) and ASSD (18%) however the most preferred was ASyS (40.2%) followed by ASS (33.3%) and ASSD (17.9%) (Fig. 2). ASS remained the most popular choice owing to its widespread recognition, simplicity and ease of use and recall. Some respondents argued that scientific abbreviations should not be altered for linguistic reasons.

However, ASyS was preferred by others for its clarity and ease of use, as well as its potential use to distinguish between different system involvements (e.g. ASyS arthritis, ASyS-ILD and ASyS myositis). There was also a desire to shift away from ASS owing to its polysemantic nature. ASSD was favoured by some respondents for its ease of typing and because it was already in use within the CLASS project, offering continuity in clinical and research settings. A detailed summary of the reasons underlying the preference for each abbreviation is provided in Table 3.

Table 3.

List of abbreviations preferred by expert group with reasons

Abbreviation	Reasons for preference
ASS	Simple, widely recognized and easy to recall Advocated by some as scientific abbreviations should not be altered for linguistic reasons
ASyS	There was a preference to shift use from ASS Easy to use and not confused with other diseases like AS for ankylosing spondylitis, anti-SS for Sjogren’s syndrome or systemic sclerosis Representative of the disease nomenclature
ASSD	Currently being used in the CLASS project Not overlapping with other abbreviations Easy to use in oral presentations and documentation
Others	AS/ASA/Anti-SS/Anti-SS-OM/Anti-ARS can be easily confused with other diseases and drugs hence are not unique to anti-synthetase syndrome

Among the abbreviations considered unacceptable, ASS was the most prominent, with 62% of respondents indicating strong objections. Despite being the most used, there was significant preference to shift usage to terms like ASyS (40%) and ASSD (26%). The primary concerns were its offensive connotations and the potential for confusion due to its polysemantic nature. However, these issues were less pronounced in other languages, where local terminology variations mitigated such concerns. Other abbreviations, such as AS, ASA and anti-SS, were also deemed problematic. AS and ASA were seen as potentially confusing with ankylosing spondylitis and aspirin respectively, whereas anti-SS and anti-SS-OM could be confused with Sjogren’s disease and systemic sclerosis. Abbreviations such as SynS, anti-ARS and anti-ARS syndrome were criticized for being lengthy and confusing.

Patient panel preferences

Thirteen patients participated in the round 2 Delphi survey. The results indicated a strong preference for anti-synthetase syndrome (84.6%) as the most appropriate nomenclature, primarily due to its simplicity and familiarity. The preferred abbreviation among patients was ASS (61.5%), although concerns were raised regarding its appropriateness in discussions with family members and in awareness campaigns. These concerns were particularly relevant in the context of communication and education about the disease.

Steering committee consensus

The Steering Committee, comprising of 25 myositis experts and three patient representatives, reviewed the survey findings (Supplementary Fig. S3, available at Rheumatology online). The Committee focused its deliberations on narrowing down the nomenclature options to anti-synthetase syndrome and antisynthetase syndrome, and on the approval of ASyS as the consensus abbreviation.

The initial voting outcomes were as follows: for nomenclature, anti-synthetase syndrome received 69% of the votes, while antisynthetase syndrome received 31%. For abbreviation, 93.1% of the Steering Committee members approved ASyS as the preferred abbreviation.

As a consensus threshold of 70% was not reached for the nomenclature in the initial voting, it necessiatated further discussions, leading to a unanimous consensus in favour of anti-synthetase syndrome in the second round.

Discussion

The objective of this consensus project was to establish a standardized nomenclature and abbreviation for anti-synthetase syndrome to promote consistency in usage and mitigate the complications arising from the current lack of uniformity in the literature concerning this disease.

The standardization of nomenclature and abbreviations in the medical literature is crucial for enhancing clarity and ensuring consistency in usage. Furthermore, it facilitates effective interdisciplinary communication and fosters improved global understanding and collaboration by aligning interpretations. A consensus nomenclature enables the accurate collection and comparison of epidemiological data, thereby simplifying the tracking of disease trends, treatment outcomes and the effectiveness of interventions, as well as supporting meta-analytic research. Additionally, it aids in communicating with patients, enhances their understand of their condition, reduces stigma and participates in awareness initiatives. Standardized terminology is also vital for securing research funding, obtaining drug approval, establishing insurance coding and developing reimbursement policies.

Building on these premises, the core team initiated this project in collaboration with IMACS with the goal of developing a consensus nomenclature and abbreviation for anti-synthetase syndrome. It is noteworthy that experts from various specialties involved in the care of anti-synthetase syndrome patients, as well as from diverse geographical regions, contributed to the expert group and steering committee overseeing the consensus process. Moreover, an independent patient perspective was incorporated through a separate survey, with patient representatives actively participating in the steering committee for final voting.

A key point of discussion in the nomenclature consensus was the inclusion of a hyphen in ‘anti-synthetase’. Following careful deliberation and two rounds of voting, the term ‘anti-synthetase syndrome’ was unanimously (100%) adopted. Regarding abbreviation, there was a clear preference among steering committee members to shift away from using ASS given its possible negative connotations. ASyS and ASSD were discussed in detail particularly considering the use of ASSD in the CLASS project. Ultimately, ASyS was preferred given its simplicity, clarity and lack of confusion with other diseases, receiving 93.1% consensus.

The study possesses several strengths. First, it is the first qualitative study to address heterogeneity in nomenclature for anti-synthetase syndrome conducted under the supervision of IMACS. Second, a thorough literature review was followed by communication with all authors and physicians of the IMACS network to understand current practices. Third, detailed deliberation among geographically diverse groups of experts was conducted in the steering committee to arrive at a consensus. Fourth, patient participants were also included in the decision-making process at every step.

However, this study has some limitations. We attempted to invite a broad geographic representative sample of experts and patients but recognize that not all opinions may have been captured. Some geographic regions may have been over- or underrepresented, though efforts were made to balance this based on the number of clinical studies from each area. Second, there was a significant dropout of participants in the round 2 survey as compared with round 1. Third, the consensus pertains specifically to nomenclature and abbreviation in the English language, hence adaptation might be necessary for other languages. Such adaptation would require collaboration with regional experts and patient organizations for consensus and dissemination.

Following the development of the consensus, the core team and steering committee will focus on its dissemination and implementation. To facilitate this, the consensus results will be shared with all physicians registered with the IMACS, presented at both international and national rheumatology conferences, and distributed to colleagues and patient support groups.

The key difficulty in adopting new terminology lies in changing the deeply ingrained habits of clinicians, researchers and patients. Shifting established terminology requires altering how stakeholders conceptualize and communicate about this condition. Apart from dissemination, it involves addressing resistance to change and ensuring that new practices are integrated into clinical and research settings. Coordinated efforts and time will be necessary to shift understanding and usage effectively.

Conclusion

Henceforth, anti-synthetase syndrome and ASyS should be used as consensus nomenclature and abbreviation of anti-synthetase syndrome, respectively. Standardization is expected to increase consistency within the literature. It’s recommended that this nomenclature be adopted not only for the communication of results in academic journals and scientific conferences, but also in routine clinical practice, particularly when documenting patient histories and during patient education and counselling. This standardization will increase clarity and uniformity across all aspects of care.

Supplementary material

Supplementary material is available at Rheumatology online.

Data availability

Further data can be made available on request from corresponding author.

Funding

No specific funding was received from any bodies in the public, commercial or not-for-profit sectors to carry out the work described in this article.

Disclosure statement: Mazen M. Dimachkie has received consultancy fees, payment or honoraria for lectures, presentations, manuscript writing or educational events and participated on a Data Safety Monitoring Board or Advisory Board for Abata/Third Rock, Abcuro, Amicus, ArgenX, Astellas, Cabaletta Bio, Catalyst, CNSA, Covance/Labcorp, CSL-Behring, Dianthus, Horizon, EMD Serono/Merck, Fortrea, Ig Society, Inc, Ipsen, Janssen, Medlink, Nuvig, Octapharma, Sanofi Genzyme, Shire Takeda and TACT/Treat NMD. He has received grants or from Alexion/AstraZeneca, Alnylam Pharmaceuticals, Amicus, Argenx, Bristol-Myers Squibb, Catalyst, CSL-Behring, FDA/OOPD, GlaxoSmithKline, Genentech, Grifols, Mitsubishi Tanabe Pharma, MDA, NIH, Novartis, Octapharma, Orphazyme, Ra Pharma/UCB Biopharma, Sanofi Genzyme, Sarepta Therapeutics, Shire Takeda, Spark Therapeutics and The Myositis Association. He has also received royalty for manuscript writing from Wolters Kluwer Health/UpToDate. Dr Rohit Aggarwal has received research grants from Boehringer Ingelheim (BI), Bristol-Myers Squibb, EMD Serono, Janssen, Mallinckrodt, Pfizer and Q32. Dr Rohit Aggarwal has received consulting fees from Alexion, ANI Pharmaceutical, Argenx, Artasome, AstraZeneca, Boehringer Ingelheim, Bristol Myers-Squibb, CabalettaBio, Capella, Capstan, Corbus, CSL Behring, EMD Serono, Galapagos, Horizontal Therapeutics, I-Cell, Immunovant, Janssen, Kezar, Kyverna, Lilly, Manta Medicines Corporation, Novartis, Nuvig Therapeutic, Octapharma, Pfizer, Roivant, Sanofi, Teva, Tourmaline Bio and Verismo therapeutics. Gianluca Sambataro reports personal fees from Boehringer Ingelheim and Gentili for lectures outside the submitted work. Harsha Gunawardena reports speaker fees previously from CSL Vifor and Boehringer Ingelheim. NIL for others.