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Refer a Patient with Lipodystrophy

What is Lipodystrophy?

Lipodystrophies are a rare diseases characterized by abnormal loss of body fat from various regions of the body along with potentially serious metabolic complications like diabetes, high lipid levels (especially triglycerides) in blood and fat deposits in the liver. The fat loss can vary from very small areas on one part of the body to near total absence of fat from the entire body. Lipodystrophy can be inherited (run in families) or caused secondary to other illness or drugs. These patients can get very ill as the metabolic complications are not easy to control. 

How is Lipodystrophy diagnosed?

A diagnosis of lipodystrophy is based upon identification of characteristic loss of body fat, detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Some patients with generalized lipodystrophies can develop diabetes requiring very high insulin doses, and extreme hypertriglyceridemia, which result in acute pancreatitis.

What are the causes of Lipodystrophy?

  1. Genetic lipodystrophies: These are familial or inherited and caused by mutations in gene. Congenital generalized lipodystrophy and familial partial lipodystrophy are the two main subtypes of inherited lipodystrophy; the other subtypes are extremely rare.
  2. Acquired lipodystrophies: These can occur during childhood, adolescence or adulthood and caused by medications, autoimmunity or for unknown reasons (idiopathic). Common subtypes of acquired lipodystrophy include acquired generalized lipodystrophy (Lawrence syndrome), acquired partial lipodystrophy (Barraquer-Simons syndrome).

How is Lipodystrophy treated?

Current therapies prevent the associated complications and comorbidities of lipodystrophy syndromes. Metreleptin therapy in addition to dietary changes should be considered for generalized lipodystrophy with metabolic abnormalities.  

Lipodystrophy Doctors and Providers