peroxisome proliferator activated receptor-gamma defect (PPARG defect)

Genetics

• autosomal dominant
• defect is PPARG, loss of function

Clinical manifestations

• severe insulin resistance & marked hypertension
• obesity
• familial partial lipodystrophy

Complications

• susceptibility to colon cancer

Management

• life style modification
• antihypertensive agents
• insulin-senzitizing agent(s): metformin

Additional terms

• peroxisome proliferator-activated receptor gamma; PPAR-gamma; nuclear receptor subfamily 1 group C member 3 (PPARG, NR1C3)