Multiple Symmetric Lipomatosis (MSL)

Madelung’s Disease

 

Definition

Madelung's Disease is a rare condition characterized by the growth of fatty tumors (lipomas) symmetrically around the neck, shoulders, upper arms and/or upper trunk. It most often affects men of Mediterranean ancestry between the ages of 30 and 70 who have a history of alcohol abuse. Non-alcoholics and women can also be affected.(1)

 

Etiology

MSL has been described as a rare metabolic condition in which the accumulation and progressive enlargement of multiple collections of adipose tissue occurring in the subcutaneous tissue of the neck, upper arms, and shoulder area.  “Multiple Symmetric Lipomatosis (MSL), is an infrequent disease with an unknown etiology. MSL is characterized by multiple masses of adipose tissue and it is usually associated with alcoholism, metabolic disorders and neuropathy.”(2) 

 

Symptoms

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

  • Enlarged neck
  • Enlarged shoulders
  • Weight gain in upper body
  • Neck pain may be present
  • Age of onset is usually between 30 and 60 yrs
  • Adult alcoholic males are diagnosed more often than women
  • Women and those who do not drink alcohol may also be diagnosed
  • Lipomatous masses that often present on left side of body before right side
  • Lipomas are highly vascular and have a rubbery consistency
  • Masses usually occur on head and neck prior to torso involvement
  • Extremities are occasionally involved, but rarely below the knee
  • Extremities present with weakness, decreased sensory feelings and paresthesia (feeling of something crawling on the skin)
  • Flushing and sweating may occur, particularly after eating
  • Blood pressure and heart rate fluctuations
  • Adult onset asthma
  • Glucose intolerance
  • Nocturnal diarrhea and other gastrointestinal issues
  • Foot ulcers on plantar surface
  • Spontaneous fractures of small bones
  • Extreme fatigue
  • Hypersensitivity to touch or minor trauma
  • Reduced neck mobility as condition progresses
  • Breathing can become difficult with later progression

 

Synonyms

Benign Symmetric Lipomatosis

Madelung’s Disease

Launois-Bensause Syndrome

 

Diagnosis

Due to the symmetry of the masses, a regular physical exam may not identify the condition.  Lab results may fall in the normal ranges and there may be a history of weight gain even with reduced caloric intake.  Imaging studies such as CAT scan and MRI (in particular) may show the presence of the masses. A biopsy of one of the fatty masses along with the underlying muscle tissue, and the identification of the specific pathology in both, can be helpful in confirming a diagnosis.

Treatments

Currently, treatment protocols include endoscopic removal or liposuction of lipomas and surrounding subcutaneous fat.  Though, there is often a recurrence of the lipomatous masses after liposuction and after excision.  Pain management may be offered to those patients who have advanced growths and resulting mobility issues.  It should be noted that diet control, weight loss and cessation of alcohol consumption have little to no effect on the masses and their growth. Surgical excision and/or removal of the growths are usually impractical due to the large size and location(s) of the masses. Patients should be made aware of online support groups for family members and patients with MSL.

 

Research

Several case studies and few research studies have been completed. There have been only a few small scale familial DNA studies undertaken to date.  The general consensus is that, “Familial Multiple Lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance.”(3)

 

Other Resources

Madelung's Support Groups

Minds of Malady

 

OMIM

151800

Listed by NORD

Yes

NLM MESH ID

D008069

ICD-9/10

272.8/E88.8

Orphanet number

2398

 

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®

 

Bibliography

1)  Genetic and Rare Diseases Information Center. (2012), http://rarediseases.info.nih.gov/gard/6957/madelung-disease/resources/1

2)  Mayor M, Arillo A, Tiberio G, Multiple symmetric lipomatosis: a case report. (2006), An Sist Sanit Navar, 433-7.

3)  Cheng-Hiang Lee, Roy A J Spence, Meena Upadhyaya, and Patrick J Morrison, Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. (2011), BMJ Case Rep.; bcr1020103395.