Familial partial lipodystrophy type Köbberling

Disease Overview

Familial partial lipodystrophy type Köbberling is a rare subtype of early-onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL).  However, only arms and legs have fat loss, and there is a normal or slightly increased fat distribution on the face, neck, and trunk, with excess of belly fat (central obesity).[12402][12403] Metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and high levels of fat in the blood (hypertriglyceridemia) have also been reported. This form of FPL has only been reported in women. Inheritance seems to be autosomal dominant, but the exact cause is not known.[12402][12403][12404][12405] Treatment includes medication for the metabolic problems, diet and exercises, and in some cases, surgical procedures.[12405]

Synonyms

• Familial partial lipodystrophy type 1
• FPLD1
• Familial partial lipodystrophy, Köbberling type