Lipodystrophie

Lipodystrophy, or lipodystrophie in French, refers to a group of rare disorders characterized by abnormal distribution of adipose tissue. Fat may be lost from certain regions and/or gained in others, leading to unusual body fat patterns. The condition is broadly classified as congenital (genetic) lipodystrophies and acquired lipodystrophies.

Genetic forms include generalized lipodystrophy, in which almost all body fat is lost, and partial lipodystrophy, with regional fat loss. The most well-described congenital forms result from mutations in genes such as AGPAT2, BSCL2, PTRF, CAV1, PPARG, LMNA, AKT2, PLIN1, and CIDEC. Acquired lipodystrophy has several etiologies, including autoimmune diseases, infections, and antiretroviral therapy–associated lipodystrophy in people living with HIV.

Clinical features commonly include metabolic disturbances: severe insulin resistance, diabetes mellitus, hypertriglyceridemia, and nonalcoholic fatty liver disease. Fat redistribution can cause cosmetic concerns and psychosocial impact, and metabolic complications often require ongoing management.

Diagnosis relies on clinical assessment supported by imaging to characterize fat loss or gain (for example, DEXA or MRI), metabolic testing, and genetic analysis when a hereditary form is suspected. Differential diagnosis includes other disorders of fat distribution and obesity-related metabolic disease.

Management aims at controlling metabolic complications and improving quality of life. Lifestyle modification is foundational; glucose- and lipid-lowering therapies are used as needed. Metreleptin is approved for generalized lipodystrophy and certain partial forms. HIV-associated lipodystrophy may require modification of antiretroviral therapy. Cosmetic options such as fat grafting or contour procedures can address cosmetic concerns.

Prognosis varies by subtype and severity, with metabolic complications driving morbidity in many cases. Lipodystrophies are rare, and care is usually coordinated by endocrinologists or metabolic specialists.