Dercum’s Disease (DD)

 

(Adiposis Dolorosa)

 

Definition

 

Dercum's disease is an extremely rare disorder characterized by multiple, painful growths consisting of fatty tissue (lipomas). Pain may be caused by the lipomas pressing on nearby nerves. Dercum's disease mainly occurs in adults and more women are affected than men. (1)

 

Etiology

 

The specific etiology of Dercum's Disease is unknown.  Though it was first described in 1888 by American neurologist Francis Xavier Dercum, little research has been done due to its rare disease status.  Some current research indicates the disease may be auto-immune in nature, although metabolic or autoimmune components have been proposed (2).  Dercum's disease is also thought of as autosomal dominant +/- a sex-specific influence.  Other proposed, but unconfirmed etiologies include: nervous system dysfunction, mechanical pressure on nerves, adipose tissue dysfunction and trauma. (3) 

 

Symptoms

Symptoms vary significantly by person; not all people have all symptoms

 

  • Painful lipomas ranging in size from rice grains to a fist or larger
  • Pain in fat deposits for at least three months
  • Pain may be spontaneous, sporadic or upon palpation
  • Fatigue; increased by activities of daily living and exercise
  • Memory difficulties/impairment
  • Difficulty forming thoughts; “brain fog”
  • Difficulty expressing thoughts; word finding problems
  • Weight gain in most
  • Vascular involvement; angiolipomas
  • Multiple cherry angiomas and petechiae
  • Easy bruising
  • Flushing
  • Heavy or prolonged menstrual bleeding
  • Hematuria of unknown cause
  • Non-pitting edema in subcutaneous fat
  • GERD; gastro-esophageal reflux disease
  • Irritable bowel syndrome, bloating, and abdominal pain
  • Migranes
  • Early satiety
  • Joint pain and/or stiffness; increased in areas of fat deposits
  • Muscle pain and stiffness; especially upon wakening or the day after physical activity
  • Shortness of breath
  • Tachycardia; rapid heart palpitations to supraventricular tachycardia requiring beta-blockers
  • Sleep disturbance; insomnia
  • Depression and anxiety
  • Symptoms may progress to a point of immobility

 

Synonyms

Morbus Dercum

Adiposis Dolorosa (though this term is used in the UK to describe Lipedema)

Adiposalgia

Lipomatosis Dolorosa

Adipose Tissue Rheumatism

Juxta-Articular Adiposis Dolorosa

 

Diagnosis

Diagnosis is based on clinical criteria and should be made by systematic physical examination and thorough exclusion of differential diagnoses.  Differential diagnoses include: fibromyalgia, lipedema, panniculitis, endocrine disorders, primary psychiatric disorders, multiple symmetric lipomatosis, familial multiple lipomatosis, and adipose tissue tumors. (4)  Due to the lack of awareness and knowledge about Dercum’s Disease, reaching a concrete diagnosis can be very challenging, especially when no specific diagnostic procedure exists.  MRIs, CT scans, biopsies and symptomatic rulings can be helpful.

 

Types of Dercum’s Disease (5)

Type I, juxta-articular (around the joint): Painful folds or nodular fat on the inside of the knees and/or on the hips; in rare cases only evident in the upper-arm

Type II, diffuse, generalized type: Widespread pain from fatty tissue found anywhere from head to the soles of the feet

Type III, nodular type: Intense pain in and around multiple “lipomas”, sometimes in the absence of obesity

 

Treatments

Currently, there is no cure for Dercum’s Disease.  Treatment consists of addressing symptoms and pain management.  Opiates may help some patients however others experience no benefit from them.  NSAIDs have been relatively unsuccessful in treating pain, though some patients report limited relief.  Weight reduction helps to relieve some of the joint pain and surgical excision of lipomas may affect patient comfort.  Lipomas have been known to reoccur and increase in number at the same site or nearby location. 

 

Liposuction may be performed in some cases to remove lipomas and excess fat however without sufficient efforts at self management and lifestyle changes, the lipomas, localized excess fat and pain may reappear.  “Experience shows that lasting weight reduction by changing the diet is difficult to achieve and does not appreciably affect the pain.” (6) Since DD is chronic and progressive in nature, movements and mobility may become a challenge.  Comfort aids and mobility aids should also be considered when necessary.  Items such as canes, scooters, gel cushions, and gel mattresses are but a few of the items available to assist Dercum’s Disease patients in their activities of daily living.  Many patients find warm pool therapy or very low impact exercise helpful.  Manual Lymphatic Drainage (MLD) sometimes proves to be beneficial as well. (7)

 

Some things that may worsen Dercum’s Disease symptoms are:  strenuous physical therapy, strenuous exercise, repetitive motions, lack of sleep, poor diet, surgery, steroids, trauma and stress.  These activities should be performed with caution and with physician approval.

 

OMIM

103200

Listed by NORD

Yes

NLM MESH ID

D000274

ICD-9/10

NA/E88.2

Alternative ICD-9/10

338.4/G89.4

 

Chronic pain syndrome

Orphanet number

36397

 

ICD=International Classification of Diseases; MESH=medical subject headings; NLM=national Library of Medicine; NORD=National Organization of Rare Disease; OMIM=Online Mendelian Inheritance in Man®

 

Research

 

1)  National Organization for Rare Disorders. https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/490/viewFullReport

2)  Wortham, N. C., and Tomlinson, I. P. (2005) Dercum's disease. Skinmed. 4, 157-162; quiz 163-1644.

3)  HanssonE, SvenssonH, and BrorsonHReview of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis.,2012 April 30. doi:  10.1186/1750-1172-7-23.

4) Hansson E, Svensson H, and Brorson H Review of Dercum’s disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis., 2012 April 30. doi:  10.1186/1750-1172-7-23

5)  Brorson H, Fagher B. Dercum's disease. Fatty tissue rheumatism caused by immune defense reaction? Lakartidningen, 1996; 93: 1430; 1433–6. 

6)  http://emedicine.medscape.com/article/1082083-treatment#a1130

7)  Lange U, Oelzner P, Uhlemann C. Dercum’s disease (Lipomatosis dolorosa): successful therapy with pregabalin and manual lymphatic drainage and a current overview. Rheumatol Int. 2008;29:17–22. doi: 10.1007/s00296-008-0635-3.

8) Read more in the Dercum's Disease White Paper here