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Lipodystrophy is a general term for a collection of disorders involving the complete (generalized) or partial loss of fat tissue. This disorder can be inherited as a generic disorder (congenital) or acquired, at any age, due to an autoimmune disorder.  Patients with severe, generalized lipodystrophies share an inability to produce enough of the hormone leptin, which is made by fat tissue.  Leptin regulates appetite in the body.  Leptin deficiency can lead to excessive hunger, difficult to control diabetes, and extremely high triglycerides, as well as other metabolic problems.

Generalized forms of lipodystrophy are extremely rare. Acquired generalized lipodystrophy has been reported in approximately 100 - 250 individuals, and is more common in women than men. There have been approximately 300 cases of congenital generalized lipodystrophy reported with an estimated worldwide prevalence at roughly 1 in 10 million individuals.[1]

A variety of tests can be used to aid in the diagnosis of lipodystrophy including assessment of the and leptin in the blood.   For individuals with congenital lipodystrophy, genetic testing can detect mutations specific to the disorder to confirm the diagnosis in most cases.

Signs and symptoms related to generalized lipodystrophy include, but are not limited to:

  • Near total absence of body fat
  • Excessive appetite in infants and children
  • Acanthosis nigricans: abnormally increased coloration and thickening of the skin
  • Fat accumulation in the liver (hepatic steatosis)
  • Diabetes
  • High triglycerides, leading to risk of pancreatitis
  • Imbalance of sex hormones in women (polycystic ovary syndrome)

Current drug therapy for generalized lipodystrophy available at Accredo includes:

  • Myalept
    • The U.S. Food and Drug Administration (FDA) approved this drug for the treatment of compllications due to leptin deficiency in patients with congenital or acquired generalized lipodystrophy
    • Myalept is part of the Risk Evaluation and Mitigation Strategy (REMS) program.


[1]Garg, A.  Acquired and Inherited Lipodystrophies.  NEJM 2004; 350:1220-34.


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