Lipodystrofier

Lipodystrofier, or lipodystrophies, are a group of rare disorders characterized by abnormal distribution or loss of adipose tissue. They may be inherited (genetic) or acquired. Classification is often by the pattern and extent of fat loss or gain: generalized lipodystrophy (near-total loss of body fat), and partial lipodystrophy (loss in specific areas such as limbs, face, or trunk, sometimes with fat accumulation in the neck or abdominal region). Genetic forms include congenital generalized lipodystrophy and familial partial lipodystrophies; acquired forms include HIV-associated lipodystrophy and lipodystrophy linked to autoimmune disease, inflammation, or certain drugs.

Pathophysiology typically involves depletion or dysfunction of subcutaneous fat, leading to ectopic fat deposition in liver and muscle. This contributes to metabolic complications such as severe insulin resistance, impaired glucose tolerance or diabetes, hypertriglyceridemia, fatty liver disease, and increased cardiovascular risk. Women may experience secondary reproductive or metabolic issues, including features resembling polycystic ovary syndrome.

Diagnosis combines clinical assessment with family history and, when available, genetic testing. Laboratory evaluation focuses on glucose and lipid metabolism, liver enzymes, and signs of metabolic syndrome. Imaging and body composition studies can document fat loss.

Management is largely supportive and aimed at metabolic control. There is no cure for most forms. In generalized lipodystrophy, metreleptin (a leptin analog) has shown metabolic benefits and is approved in some regions. Treatment strategies also include standard management of diabetes and dyslipidemia, liver disease monitoring, and genetic counseling. HIV-associated lipodystrophy may require changes to antiretroviral therapy and targeted metabolic treatment.