lipodystrophe

Lipodystrophy is a group of rare disorders characterized by the loss of adipose tissue (fat). This loss can be generalized, affecting the entire body, or partial, affecting specific areas. The condition can be congenital, meaning present at birth, or acquired later in life.

There are several types of lipodystrophy. Generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is the most severe form, with widespread loss of subcutaneous fat from birth. Partial lipodystrophy, such as the Dunnigan variety, involves fat loss in specific areas, often the face, neck, arms, and legs, while fat accumulates in other regions like the abdomen and buttocks. Acquired lipodystrophies can arise from autoimmune conditions, infections, or as a side effect of certain medical treatments.

The absence or severe reduction of fat tissue leads to a variety of health problems. Metabolic complications are common and can include insulin resistance, diabetes mellitus, hypertriglyceridemia (high levels of triglycerides in the blood), and fatty liver disease. Individuals may also experience cardiovascular issues. Depending on the specific type, other symptoms can include prominent veins, increased appetite, and certain physical characteristics.

Diagnosis involves a clinical evaluation and can be supported by laboratory tests to assess metabolic function and genetic testing to identify specific mutations. Treatment focuses on managing the associated metabolic complications through diet, exercise, and medications to control blood sugar, lipids, and other related issues. There is no cure for lipodystrophy itself, but supportive care aims to improve the quality of life and prevent serious health consequences.