Genetic abnormality

From WikiMD's Wellness Encyclopedia

Generalized Lipodystrophy is a rare medical condition characterized by the widespread loss of adipose tissue, leading to a lack of fat storage in the body. This condition can be either congenital, known as Congenital Generalized Lipodystrophy (CGL), or acquired, known as Acquired Generalized Lipodystrophy (AGL).

Overview[edit | edit source]

Lipodystrophy is a group of disorders characterized by the selective loss of body fat. In generalized lipodystrophy, this loss is not localized but affects the entire body. The condition can lead to various metabolic disorders, including insulin resistance, diabetes mellitus, hypertriglyceridemia, and fatty liver.

Types[edit | edit source]

There are two main types of generalized lipodystrophy: Congenital Generalized Lipodystrophy (CGL) and Acquired Generalized Lipodystrophy (AGL).

Congenital Generalized Lipodystrophy[edit | edit source]

CGL is a genetic disorder that is present from birth. It is caused by mutations in specific genes that regulate the development and function of adipose tissue. There are four known types of CGL, each associated with a different gene mutation: CGL1, CGL2, CGL3, and CGL4.

Acquired Generalized Lipodystrophy[edit | edit source]

AGL typically develops during childhood or adolescence. The cause of AGL is not well understood, but it is thought to be related to the immune system. Some cases have been associated with autoimmune diseases, while others have occurred following infections or medications.

Symptoms[edit | edit source]

The primary symptom of generalized lipodystrophy is the loss of body fat. This can lead to a muscular appearance, even in children. Other symptoms can include an enlarged liver, high levels of triglycerides in the blood, and insulin resistance leading to diabetes.

Treatment[edit | edit source]

There is currently no cure for generalized lipodystrophy. Treatment focuses on managing the symptoms and preventing complications. This can include dietary modifications, medications to control diabetes and high triglyceride levels, and in some cases, leptin therapy.

See Also[edit | edit source]




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Contributors: Prab R. Tumpati, MD