What is Dercum's disease?

Dercum's Disease (Adiposis Dolorosa)

Dercum's disease, also known as adiposis dolorosa, is a rare disorder characterized by multiple painful subcutaneous lipomas (fatty deposits) that significantly impact quality of life through chronic pain and associated symptoms. This condition primarily affects women between ages 35-50 and is characterized by painful adipose tissue deposits that can be generalized or localized, often accompanied by psychiatric disturbances and other systemic symptoms. 1

Clinical Presentation

Key Diagnostic Features

• Painful subcutaneous adipose tissue deposits (essential criterion)
• Generalized overweight or obesity
• Pain that is:
  • Chronic (>3 months)
  • Often described as burning or aching
  • Can be triggered by physical activity

Classification

Dercum's disease can be categorized into four distinct types 1:

1. Generalized diffuse form - Widespread painful adipose tissue without distinct lipomas
2. Generalized nodular form - General pain in adipose tissue with intense pain in and around multiple lipomas
3. Localized nodular form - Pain concentrated in and around multiple lipomas
4. Juxtaarticular form - Solitary deposits of excess fat near joints (e.g., medial aspect of knee)

Associated Symptoms

• Easy bruisability
• Sleep disturbances
• Cognitive impairments (memory problems, difficulty concentrating)
• Psychiatric manifestations (depression, anxiety)
• Cardiovascular symptoms (rapid heartbeat, shortness of breath)
• Metabolic issues (diabetes)
• Gastrointestinal complaints (bloating, constipation)
• Fatigue and weakness
• Joint pain 1, 2

Epidemiology

• 5-30 times more common in women than men
• Typically appears between ages 35-50
• Exact prevalence remains unknown 1
• Most cases occur sporadically, though some familial cases have been reported 3

Pathophysiology

The exact etiology of Dercum's disease remains unclear. Proposed mechanisms include:

• Nervous system dysfunction
• Mechanical pressure on nerves from lipomas
• Adipose tissue dysfunction
• Trauma
• No specific genetic mutations have been consistently identified 1

Diagnostic Approach

Clinical Diagnosis

Diagnosis is primarily clinical and requires systematic physical examination and thorough exclusion of differential diagnoses. The diagnosis should be made by a physician experienced in pain management conditions 1.

Diagnostic Workup

• Detailed physical examination to identify painful adipose deposits
• Ultrasound to confirm adipose composition of nodules
• MRI to visualize and characterize lipomatous masses
• Laboratory tests to exclude other conditions (ESR, CRP, lipid profile)
• Whole-body fat distribution assessment may be helpful 4

Differential Diagnosis

• Fibromyalgia
• Lipoedema
• Panniculitis
• Endocrine disorders
• Primary psychiatric disorders
• Multiple symmetric lipomatosis
• Familial multiple lipomatosis
• Adipose tissue tumors 1

Management

No single treatment has demonstrated consistent long-term efficacy for Dercum's disease. A multidisciplinary approach focused on pain management is recommended:

Surgical Interventions

• Liposuction - Has shown some effectiveness in reducing pain 1, 2
• Surgical excision - For select symptomatic lipomas, though recurrence is common 2

Pharmacological Approaches

• Analgesics - For pain management
• Lidocaine - Local or systemic administration
• Immunomodulators - Methotrexate and infliximab have shown limited success
• Interferon α-2b - Reported in some cases
• Corticosteroids - For inflammation control
• Calcium-channel modulators - For neuropathic pain component 1, 5

Other Therapeutic Approaches

• Rapid cycling hypobaric pressure - Experimental treatment
• Psychotherapy - To address associated psychiatric symptoms
• Physical therapy - For mobility and pain management 1, 2

Prognosis

The pain in Dercum's disease tends to be relatively constant over time, with most treatments providing only partial relief. The condition is not typically life-threatening but can significantly impact quality of life through chronic pain and associated symptoms 1.

Clinical Pearls

• Dercum's disease is often misdiagnosed, with patients sometimes labeled as pain-seeking or having purely psychological disorders 2
• The condition should be considered in obese patients with unexplained painful subcutaneous masses
• Ankle involvement is uncommon but has been reported 4
• Treatment should focus on both pain management and addressing associated psychiatric symptoms

Despite being described over 130 years ago, Dercum's disease remains poorly understood with minimal therapeutic advances, highlighting the need for further research into this debilitating condition 2, 3.