Diagnosis often involves a combination of clinical evaluation, genetic testing, and laboratory investigations. Key steps include:
- Clinical Evaluation: Detailed medical history and physical examination to identify characteristic signs of fat loss and associated metabolic complications. - Genetic Testing: Used to confirm a diagnosis of congenital forms of lipodystrophy. It can identify mutations in genes such as AGPAT2, BSCL2, and LMNA. - Laboratory Investigations: Blood tests to assess lipid levels, glucose tolerance, liver function, and other relevant metabolic parameters.
