FPLD

FPLD stands for familial partial lipodystrophy, a group of hereditary disorders characterized by abnormal regional distribution of adipose tissue and associated metabolic complications. In most forms, subcutaneous fat is lost from the limbs and trunk while fat may accumulate in the face, neck, and abdominal region. The pattern is variable by subtype and sex, and metabolic problems commonly develop during adolescence or adulthood.

Genetic forms are usually inherited in an autosomal dominant manner. The most studied subtypes are linked to mutations in LMNA (FPLD2, Dunnigan-type) and PPARG (FPLD3). Other forms involve mutations in PLIN1 (FPLD4) and CAV1 (CAV1-related lipodystrophy). In some families, the genetic cause remains unknown (FPLD1).

Diagnosis combines clinical assessment with targeted genetic testing and evaluation to distinguish partial from generalized lipodystrophy. Imaging (e.g., DXA) helps characterize fat distribution, while metabolic workup screens for insulin resistance, diabetes, dyslipidemia, and hepatic steatosis.

Management is multidisciplinary. It aims to reduce metabolic risk through diet, physical activity, glucose and lipid-lowering therapies, and monitoring for liver disease. Leptin replacement therapy with metreleptin has shown metabolic benefits in some patients with lipodystrophy and may be considered where appropriate.

Prognosis depends on the subtype and degree of metabolic complications. Lipodystrophy-related disorders are rare, and awareness of the condition supports early identification and management to reduce cardiovascular and hepatic risks.