Familial Partial Lipodystrophy

Familial partial lipodystrophy mutations causing progressive subcutaneous fat loss from the extremities and trunk with paradoxical fat accumulation in the face and neck. This redistribution precipitates severe insulin resistance, hypertriglyceridemia, and premature cardiovascular disease. Diagnosis relies on physical examination recognizing characteristic fat loss patterns, genetic testing, and metabolic profiling. Management focuses on aggressive metabolic optimization, lifestyle modification, and targeted therapies for dyslipidemia and glycemic control to mitigate long-term cardiovascular and hepatic sequelae.