Dercum’s Disease: The Clinical Presentation, Diagnosis, Radiological Findings, and Treatment of a Rare, Debilitating Inflammatory Disorder

Abstract

Introduction

Dercum’s disease, also known as adiposis dolorosa, is a rare syndrome characterized by the growth of multiple, and painful, subcutaneous adipose tissues that commonly present in the abdomen and extremities. The scientific community hypothesizes that Dercum’s disease is a combination of neurologic and endocrine disorders. Patients commonly describe it as chronic adipose pain, which manifests as sporadic painful flares throughout their history with the disease.

Case Presentation

We share the case of a 32-year-old woman who presented to the emergency department for an acute episode of left lower extremity pain and swelling associated with a previously diagnosed history of Dercum’s disease. The patient had similar events in the past, with her last episode being 3 months earlier. A diagnosis is based on clinical presentation, findings on imaging, and the exclusion of other diseases that are associated with lipomas. While there is no standard approach to treatment, healthcare professionals focus on pain management.

Conclusion

Dercum’s disease is a chronic debilitating disorder, with multiple types that are diagnosed through imaging. The treatment of Dercum’s disease is predicated on the patient’s symptoms and the effectiveness of medications that vary based on the patient’s needs.

Introduction

Dercum’s disease is a rare disorder described by chronic pain due to the development of multiple painful lipomas within subcutaneous adipose tissue.¹ The etiology of Dercum’s disease remains unknown despite prior attempts made to characterize it. Although researchers have not defined the exact prevalence of the disease, existing literature suggests it is more common in obese women aged 35–50.¹ Common symptoms associated with this condition include weakness, fatigue, depression, and dementia. The pain produced during its presentation usually involves adipose tissue within the abdomen, extremities, and buttocks. The pattern of symptoms is intermittent, fluctuating throughout the course of the disease. Dercum’s disease is a diagnosis of exclusion that includes ruling out fibromyalgia, lipoedema, familial multiple lipomatosis, and adipose tissue tumors. ² Cook et al found that there are additional factors to consider besides symptoms and physical examination results.² Researchers have established a trend of painful flares, obesity, and hypertension (HTN) in Dercum’s disease despite the lack of studies regarding its pathophysiology, presentation, and management. We present a patient known to have Dercum’s disease who came to us with diffuse leg swelling, a symptom not previously described in the literature.

Case Presentation

A 32-year-old woman presented to the emergency department for an acute episode of left lower extremity pain and swelling associated with a previously diagnosed history of Dercum’s disease (Figure 1). The patient had similar events in the past, with her last episode being 3 months earlier. She mentioned she had her first episode of pain at 15, with her body mass index (BMI) at the time being 21.2. It was at this point that she received an official diagnosis of Dercum’s disease type 1 from the National Organization for Rare Disorders. In addition to the patient’s clinical presentation of primarily pain and fatty growths, a confirmation biopsy was conducted and revealed that the growths were lipomas. The fact that the patient never experienced a flare during her time of pregnancy in her late 20’s is noteworthy.

Figure 1.

A physical exam shows severe swelling of the left leg, which is a prominent and very rare sign of someone with Dercum’s disease. The severity of pain varies with the increase of swelling.

A chart review of the patient’s medical and surgical histories revealed HTN, a cholecystectomy, gastric sleeve, uterine fibroid removal, and cesarean delivery. Past imaging studies of magnetic resonance imaging (MRI) and ultrasound were negative.

At the time of arrival to the emergency department, the patient stated she had first begun experiencing pain in the left calf and then it spread throughout the left leg, below the level of the knee. She described her pain as stabbing and cramping in nature and a 10/10 in intensity. The duration of her flare-ups lasted from 20 minutes up to a few days. They usually appeared every 3 months but could occur more frequently. The pain was not constant and only presented when she experienced episodic flares, which were always associated with only her left leg swelling. The left leg swelled evenly, and there were no associated lumps or masses present upon physical examination during or in the absence of her episodes of pain. Other symptoms associated with her flares included HTN, flushing of the face, and limitation in mobility. Her BMI was 27.8 at this presentation.

A physical examination of the swollen area showed non-pitting edematous swelling, absence of underlying palpable nodules, and absence of tenderness upon palpation. Her blood pressure was 176/88 mmHg. The lab findings were unremarkable, with no increase or decrease in lab values. Deep vein thrombosis was ruled out with a lower limb duplex ultrasound.

Fibromyalgia symptoms, such as widespread pain and cognitive disorders, were not present. Lipoedema was ruled out as she was already known to have lipomas, a finding not seen in lipoedema, which presents as a diffuse increase in fat buildup with a lack of pain. Pain management was accomplished via muscle relaxants and nonsteroidal anti-inflammatory drugs (NSAIDs).

Discussion

Dercum’s disease is a rare disorder described by the development of painful subcutaneous lipomas. Its etiology is not well understood, making the disease a challenge for care providers to diagnose and manage effectively. According to the most recent comprehensive study regarding Dercum’s disease, the diagnostic criteria of the disease include an overweight or obese state as well as generalized chronic pain (>3 months) in the adipose tissue.¹ The classifications include type I (generalized diffuse form) described by widespread pain from fatty tissue, type II (generalized nodular form) characterized by pain around and in lipomas localized in multiple parts of the body, type III (localized nodular form) presenting with painful lipomas in limited locations, and type IV (juxta-articular form), which exhibits painful folds of fat located inside or very near big joints (the knee, hip or elbow).¹

Regarding symptoms associated with Dercum’s disease, 1 questionnaire, including 110 patients with the disease, revealed pain, fatty deposits unaffected by weight loss, easy bruising, sleep disturbances, impaired memory, depression, difficulty concentrating, anxiety, rapid heartbeat, shortness of breath, diabetes, bloating, constipation, fatigue, weakness, joint aches, and muscle aches as being the most common.¹

Hansson et al mention unusual symptoms described with Dercum’s disease¹ but none of which refer to edematous swelling associated with the painful flares seen in our case. Our 32-year-old female patient reported that her flares had always been accompanied by uniform swelling of the left lower extremity from below the level of the knee going to the foot. Associated symptoms accompanying her leg swelling included uniformly distributed cramping pain below the level of the knee, flushing of her cheeks, and HTN. As per the patient, the swelling subsided equally along with the intensity of the pain.

Diagnosis is based on clinical signs and symptoms while eliminating possible differential diagnoses. The most common differential diagnoses include fibromyalgia, lipoedema, panniculitis, lymphedema, and others.³ Our patient was diagnosed with type I form, as confirmed by her pain being experienced in a widespread distribution of her left lower extremity in the absence of a palpable lipoma. In addition, chronic pain in the adipose tissue further supported the diagnosis of Dercum’s disease.

An MRI is the gold standard for diagnostic imaging in Dercum’s disease. However, only in types II, III, and IV can you see consistent findings on imaging. In the case of our patient, the lack of findings did not contribute to the diagnosis. Normally, there are numerous lipomas that are relatively small, around 2 cm in diameter. The lipomas are only restricted to the superficial, subcutaneous layer, and no edema is appreciated around the lipomas on any imaging modality. Occasionally, lipomas will radiographically resemble angiolipoma. Some symptomatic lipomas may be tender with an ultrasound probe, and symptomatic lipomas are larger in size compared to asymptomatic ones.⁴

Existing treatment modalities include NSAID use, corticosteroid therapy, transdermal local anesthetic injections, as well as surgical interventions, such as liposuction or lipectomy.¹ Less commonly and with less success, calcium-channel modulators¹, antimetabolites, and tumor necrosis factor inhibitors⁵ have been used. Local anesthetic injections are a safe and relatively non-invasive treatment modality that effectively treats pain in patients with Dercum’s disease, with a 60% decrease in pain after a 1-month trial.⁶ More recently, there has been success in treating Dercum’s disease with bile acid medications. Deoxycholic acid was injected into subcutaneous fat, where adipose tissue that causes pain lies. This treatment resulted in a high level of symptom reduction. However, this management requires further confirmation.⁷ Treatment depends on the type of disease and severity of symptoms. Analgesics in the form of NSAIDs are used to treat symptoms primarily.¹ Severe symptoms can have varying treatment options, all depending on the specific patient response.

Conclusion

Dercum’s disease is a chronic debilitating disorder, with multiple types that are diagnosed through imaging. The treatment of Dercum’s is predicated on the patient’s symptoms that range from varying levels of pain to neuropsychiatric symptoms and must be personalized for the patient depending on their clinical history and the effectiveness of treatments used. Increasing awareness about Dercum’s is crucial to properly managing and increasing the quality of life for patients with the condition.

Funding Statement

This research was supported (in whole or in part) by HCA Healthcare and/or an HCA Healthcare-affiliated entity.