Familial partial lipodystrophy

Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome,[2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat.

[3]: 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.

The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat.

This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications.

Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), PLIN1 (perilipin-1), and CIDEC (cell-death-inducing DFFA-like effector B).

Type 1 (Kobberling variety, FPL1) is very rare and has only been reported in women to date.

Type 2 (Dunnigan Variety, FPL2) is the most common form and is due to mutations in the LMNA gene.

It is inherited in an autosomal recessive fashion and has been reported in only one patient to date.

Features included fat loss, severe insulin resistance, fatty liver, acanthosis nigricans and diabetes.