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Symptoms

Primary symptoms
Madelung’s disease is characterized by the growth of fatty tumors, called lipomas, which develop symmetrically around the body. Unlike typical lipomas which are small, encapsulated, just under the skin, and easily removed, Madelung’s disease lipomas are not encapsulated. They can be invasive, wrap around muscles and organs, and interfere with normal function.

Two main patterns of fat distribution have been described:

  • Type 1: Fatty tumors appear mainly around the neck and upper shoulders.
  • Type 2: Fatty tumors develop on the trunk, upper arms, abdomen, hips, and upper thighs.

Secondary symptoms
Secondary symptoms vary depending on the location and size of the fat deposits. They may include:

  • Peripheral neuropathy (nerve dysfunction caused by fatty masses pressing on nerves)
  • Dysphagia (difficulty swallowing)
  • Dyspnea (difficulty breathing)
  • Dysphonia (difficulty speaking)
  • Reduced mobility in the neck or other affected areas
  • Sleep apnea
  • Depression, psychological distress, or social isolation related to physical disfigurement

Metabolic abnormalities and associated conditions
Research suggests that people with Madelung’s disease may also experience metabolic disturbances and other health conditions. It’s not always clear whether these are inherent to the disease itself or linked to coexisting factors such as chronic alcohol use. Historically, most reported cases have involved men with a history of alcoholism. Madelung’s disease also affects women and people who don’t drink alcohol, and the demographics may be shifting.

Reported associated conditions include:

  • Diabetes
  • Liver disease
  • Hypothyroidism (underactive thyroid)
  • Abnormal lipid and metabolic profiles such as impaired glucose tolerance and insulin resistance

Sudden death

Some studies suggest there may be an increased risk of sudden death in people with Madelung’s disease, possibly related to nerve complications that affect heart rhythm and other automatic body functions. Researchers believe this may be connected to mitochondrial dysfunction, but more study is needed. For those interested in the medical details, see the June 24, 2021 NIH article on Madelung’s disease.