Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management

Abstract

DEFINITION AND CLINICAL PICTURE: We propose the minimal definition of Dercum's disease to be generalised overweight or obesity in combination with painful adipose tissue. The associated symptoms in Dercum's disease include fatty deposits, easy bruisability, sleep disturbances, impaired memory, depression, difficulty concentrating, anxiety, rapid heartbeat, shortness of breath, diabetes, bloating, constipation, fatigue, weakness and joint aches.

Classification: We suggest that Dercum's disease is classified into: I. Generalised diffuse form A form with diffusely widespread painful adipose tissue without clear lipomas, II. Generalised nodular form - a form with general pain in adipose tissue and intense pain in and around multiple lipomas, and III. Localised nodular form - a form with pain in and around multiple lipomas IV. Juxtaarticular form - a form with solitary deposits of excess fat for example at the medial aspect of the knee.

Epidemiology: Dercum's disease most commonly appears between the ages of 35 and 50 years and is five to thirty times more common in women than in men. The prevalence of Dercum's disease has not yet been exactly established.

Aetiology: Proposed, but unconfirmed aetiologies include: nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma. DIAGNOSIS AND DIAGNOSTIC METHODS: Diagnosis is based on clinical criteria and should be made by systematic physical examination and thorough exclusion of differential diagnoses. Advisably, the diagnosis should be made by a physician with a broad experience of patients with painful conditions and knowledge of family medicine, internal medicine or pain management. The diagnosis should only be made when the differential diagnoses have been excluded.

Differential diagnosis: Differential diagnoses include: fibromyalgia, lipoedema, panniculitis, endocrine disorders, primary psychiatric disorders, multiple symmetric lipomatosis, familial multiple lipomatosis, and adipose tissue tumours. GENETIC COUNSELLING: The majority of the cases of Dercum's disease occur sporadically. A to G mutation at position A8344 of mitochondrial DNA cannot be detected in patients with Dercum's disease. HLA (human leukocyte antigen) typing has not revealed any correlation between typical antigens and the presence of the condition. MANAGEMENT AND TREATMENT: The following treatments have lead to some pain reduction in patients with Dercum's disease: Liposuction, analgesics, lidocaine, methotrexate and infliximab, interferon α-2b, corticosteroids, calcium-channel modulators and rapid cycling hypobaric pressure. As none of the treatments have led to long lasting complete pain reduction and revolutionary results, we propose that Dercum's disease should be treated in multidisciplinary teams specialised in chronic pain.

Prognosis: The pain in Dercum's disease seems to be relatively constant over time.

Figure 1

Typical pain distribution in Dercum’s disease. Copyright: Håkan Brorson. The figure has previously been published in Läkartidningen [4].

Figure 2

Cumulative symptoms and signs in 110 individuals with Dercum’s disease according to a questionnaire performed by Herbst and Asare Bediako. AD: Adiposis dolorosa, which is a synonym to Dercum’s disease. The endocrinologist, 2007 [7]. Copyright: Lippincott Williams and Wilkins. Reprinted with permission.

Figure 3

Patient with Dercum’s disease. The patient has type I Dercum’s disease, a generalised diffuse form encompassing diffusely widespread painful adipose tissue without clear lipomas. The markings are preoperative markings before liposuction. Written informed consent was obtained from the patient for publication of this report and any accompanying images.