familial partial lipodystrophy type 1

A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.

Signs and symptoms

• Hypertriglyceridemia
• Increased facial adipose tissue
• Xanthomatosis
• Abnormality of the musculature
• Hepatomegaly
• Hyperglycemia
• Increased subcutaneous truncal adipose tissue
• Hypertension
• Acute pancreatitis
• Lipodystrophy

Also known as: FPLD1; familial partial lipodystrophy Kobberling type