Diagnosis and classification of generalized lipodystrophy

This algorithm summarizes our suggested approach to the diagnosis of suspected generalized lipodystrophy. Lipodystrophy is a clinical diagnosis based on physical findings and clinical and family history. Laboratory data and imaging can support the diagnosis and help identify specific forms of lipodystrophy, but these are not required for diagnosis. All individuals with lipodystrophy should be evaluated for complications and comorbid conditions. These may include type 2 diabetes, hypertriglyceridemia, cardiomyopathy, hypertension, kidney disease, and MASLD/MASH, and associated conditions may differ among specific forms of lipodystrophy. This algorithm is intended for use with additional UpToDate content on the clinical manifestations, diagnosis, and management of lipodystrophy syndromes in adults.

CGL: congenital generalized lipodystrophy; MASH: metabolic dysfunction-associated steatohepatitis; MASLD: metabolic dysfunction-associated steatotic liver disease.

* Acquired generalized lipodystrophy is also called Lawrence syndrome. It may be associated with prior viral infection, panniculitis, or autoimmune condition(s).

¶ Type 1 and type 2 CGL constitute approximately 95% of all cases of CGL. In type 2 CGL, adipose tissue loss is more severe, and intellectual disability and cardiomyopathy may be present. Genetic testing is available for many forms of congenital lipodystrophy and may be performed if the CGL subtype remains uncertain. However, not all pathogenic variants have been identified for generalized lipodystrophies, so negative genetic testing cannot exclude the presence of a specific CGL subtype.

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Diagnosis and classification of generalized lipodystrophy