PLIN1-related familial partial lipodystrophy

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: FPLD4 | PLIN1-related FPLD

A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance hepatic steatosis dyslipidemia hypertension axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

Newly diagnosed with
PLIN1-related familial partial lipodystrophy?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.