Lipodystrophiesyndrome – klinische Präsentation und Management

Lipodystrophy syndromes are a heterogeneous group of rare disorders characterized by a complete or partial loss of adipose tissue. Most forms are genetically determined, including congenital generalized lipodystrophy and familial partial lipodystrophy forms. Lipodystrophy is often associated with severe insulin resistance, type 2 diabetes mellitus, hypertriglyceridemia, metabolic dysfunction steatotic liver disease (MASLD), and increased cardiovascular risk, leading to higher mortality rates. The clinical presentation varies depending on the type of lipodystrophy, with common metabolic complications such as liver disease including metabolic dysfunction-associated steatohepatitis and cirrhosis, pancreatitis, and cardiovascular disease.

The diagnosis is made clinically and is based on medical history, physical examination, and laboratory tests, supplemented by imaging techniques to quantify fat loss. Genetic testing can be helpful but a negative result does not rule out lipodystrophy.

Treatment involves lifestyle modifications and management of associated conditions especially type 2 diabetes mellitus and dyslipidemia. The human recombinant leptin analog metreleptin can also be used for the treatment of generalized lipodystrophy and in selected cases of partial lipodystrophy. Multidisciplinary care in specialized centers is crucial due to the complexity and diversity of potential complications.