Dercum disease

What is Dercum disease?

Dercum disease is a rare condition characterised by the gradual and progressive development of benign painful subcutaneous lipomas and angiolipomas that vary in size, number, and location.

It was first described in 1892, by Dercum, who named the disease 'adiposis dolorosa' to describe the painful adiposities (fat accumulations) seen in his 3 patients. It is also known as adiposalgia and Ander syndrome.

The condition causes significant morbidity due to chronic, often treatment-resistant pain, which greatly impairs the quality of life for those affected.

A lipoma in Dercum disease - it was one of several, and all were very painful 

A painful lipoma on the back of an individual with obesity - they had over 20 others on the abdomen, trunk, and limbs 

Who gets Dercum disease?

Dercum disease is deemed a rare disorder by The National Organisation for Rare Disorders (NORD; eg, affects less than 200,000 individuals in the United States). The exact prevalence is unknown due to the limited number of reported cases.

• It occurs primarily in adults between the ages of 35 and 50 years.
• Has a strong female predominance.
• Rare in children, however there have been a few reported cases.
• More common in individuals of Caucasian descent
• Most frequently observed in those who are overweight or obese.

Although it was initially thought to predominantly affect post-menopausal women, recent studies have challenged this view, and this is no longer widely accepted.

What causes Dercum disease?

The pathogenesis is not well-understood. Several theories have been proposed to explain the development of the disease, including an underlying defect in lipid metabolism, trauma-induced lesions, mechanical pressure from growing adipose deposits on nerves, or dysregulation of the autonomic nervous system.

Dercum disease is mostly sporadic, though some case reports describe familial occurrences, inherited in an autosomal dominant pattern with incomplete penetrance. No specific genes have been implicated in its development. Establishing the hereditary nature of Dercum's disease has been challenging, largely due to difficulties in distinguishing it from other similar conditions, such as Madelung's syndrome (benign symmetric lipomatosis) and familial multiple lipomatosis.

What are the clinical features of Dercum disease?

Dercum disease has several cardinal features, including:

• Pain: Chronic pain or discomfort in the adipose nodules or surrounding subcutaneous tissue lasting at least three months, which is often debilitating. The pain is frequently described as burning or aching and may be accompanied by hyperalgesia, where even light friction from clothing can trigger discomfort.
• Elevated body mass index (BMI): Within the overweight or obese range.
• Symmetrically distributed, palpable lipomas, most commonly affecting the abdomen, inner upper arms, inner and outer thighs, and buttocks, although can be found on the head, neck, hands, or feet.

Other features that may be associated include chronic fatigue, weakness, and neuropsychiatric disturbances such as depression, anxiety, migraines, cognitive difficulties, memory impairment, and sleep disturbances. Additionally, fibromyalgia is commonly seen as a comorbidity in those affected by the condition.

Several classification systems have been proposed for Dercum disease over time. However, the currently accepted system divides the disease into four subtypes, based on variations in pain and the localisation of adipose deposits.

Proposed classification of Dercum’s Disease

How do clinical features vary in differing types of skin?

Dercum disease does not appear to be influenced by Fitzpatrick skin types or race.

What are the complications of Dercum disease?

Dercum disease may lead to:

• Chronic pain, which is notoriously difficult to manage and can significantly impair quality of life.
• Cognitive and psychological disturbances, including depression, anxiety, emotional instability, memory problems, confusion, and poor sleep quality.

How is Dercum disease diagnosed?

Dercum disease is diagnosed through a detailed patient history and physical examination, as there are no specific diagnostic tests or validated criteria available. It is important to rule out other causes of multiple lipomas.

The following investigations may be considered:

Blood:

• An increase in cholesterol levels and ESR may be observed.
• Cortisol levels and thyroid function tests may be useful to exclude conditions like Cushing syndrome and hypothyroidism.

Tissue biopsy:

• Not routinely performed as the histopathological features resemble those of benign lipomas or angiolipoma.
• A biopsy may be warranted if a subcutaneous nodule shows rapid growth, to rule out malignancy such as liposarcoma.

Imaging:

• Ultrasound scan may show multiple, oblong, hyperechoic nodules confined to subcutaneous tissues.
• MRI may show multiple subcutaneous fatty nodular lesions with increased fluid signal intensity and associated “blush-like” enhancement.

What is the differential diagnosis for Dercum disease?

Dercum disease must be differentiated from the following diseases:

Madelung disease (multiple symmetric lipomatosis)

• A rare lipid metabolism disorder primarily affecting middle-aged males of Mediterranean descent with a history of chronic alcoholism.
• Causes gradual, progressive and symmetrical deposits of painless adipose tissue in the maxillofacial area, suboccipital region, neck, shoulders, and upper trunk.
• Associated with other metabolic disorders such as diabetes, hypertension, and hypothyroidism.
• Patients may present with limited joint mobility or compression symptoms such as dyspnoea or dysphagia.

Familial multiple lipomatosis

• A rare hereditary syndrome with a proposed autosomal-dominant inheritance.
• Characterised by numerous painless subcutaneous lipomas on the trunk and extremities.

Fibromyalgia

• A chronic condition marked by widespread MSK pain, poor sleep, fatigue, and cognitive disturbances, particularly around concentration and memory.

Other differential diagnoses include:

• Lipoedema
• Panniculitis
• Cushing syndrome
• Lymphoedema
• Adipose tissue tumours

What is the treatment for Dercum disease?

Dercum disease is associated with severe, chronic pain that is challenging to treat. Some degree of trial and error is often required to individualise therapies to provide adequate symptomatic relief for each patient; chronic pain specialists may be required. The overall goal of treatment is to relieve symptoms and improve quality of life.

Some of the interventions below may be combined to achieve the best possible outcome.

General measures

• Supportive management with weight loss.
• Psychological counselling to help manage associated psychological distress and mood disorders.
• Pharmacological treatments such as antidepressants (eg, SSRIs) for psychological conditions such as depression or anxiety.

Specific measures

Localised interventions:

• Topical lidocaine and/or intralesional lidocaine.
• Intralesional corticosteroids.

Systemic pharmacological interventions:

• Simple analgesics such as paracetamol and NSAIDs, or stronger pain relief such as opioids.
• Intravenous lidocaine.
• Oral corticosteroid, however, Dercum disease has also been described to occur following the use of high dose corticosteroids.
• Less common treatments highlighted in observational studies have been mentioned with varying outcomes. These include methotrexate, infliximab, interferon alpha-2b, and metformin.

Surgical interventions:

• Liposuction, lipectomy, or other similar forms of surgical intervention have been reported as effective but temporary treatment for painful lipomas.

How do you prevent Dercum disease?

Dercum disease may be prevented by promoting and maintaining a healthy lifestyle to prevent obesity.

What is the outcome for Dercum disease?

Dercum disease runs a chronic course and long-term follow up is often necessary. The disease activity may fluctuate requiring extended therapy ranging from months to years.

The response to treatment is also often unpredictable and while short-term relief may be achieved, the recurrence of pain is common, contributing to the high morbidity associated with this disease.

If left untreated and without good support, prognosis is less favourable leading to increasingly debilitating physical and mental health consequences.