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Overview

Lipodystrophy is a general term that defines a group of disorders that are characterized by generalized or partial loss of adipose tissue in different areas of the body. Medical conditions associated with this disorder can either be acquired or inherited. The degree of severity and the specific areas of the body affected can vary greatly among lipodystrophies. Individuals affected with this disease present a variety of symptoms ranging from cosmetic to life-threatening complications. The loss of adipose tissue is often referred to lipoatrophy rather than lipodystrophy by some physicians.

At a glance

An inherited metabolic disorder mainly affecting young female adults characterized by insulin resistance with glucose intolerance, hypertriglyceridemia, and partial lipodystrophy. It is characterized by a slow onset initially presenting with progressive loss of subcutaneous adipose tissue. The loss of subcutaneous fat is mainly located in the arms, legs, and lower torso, whereas the upper section of the torso, face, neck, shoulders, and back have an excess amount of fat. This metabolic disorder is associated with heart problems (angina), cirrhosis and hepatomegaly, lipoatrophic diabetes, and pancreatitis. Other features include hypocomplementemia, glomerulonephritis, and autoimmune disorders.

Synonym

Familial Partial Lipodystrophy (FPLD).

History

Familial Partial Lipodystrophy was first described in the medical literature in 1970s independently by three groups of physicians, including Drs Ozer, Kobberling, and Dunnigan.

Classification

There are six types of familial partial lipodystrophy determined by the clinical presentation and the mutations (gene):

  • Familial Partial Lipodystrophy Type I (Köbberling Type): Characterized by loss of adipose tissue confined to the extremities, with normal or increased amounts of fat on the face, neck, and trunk. So far, this type has been reported only in females.

  • Familial Partial Lipodystrophy Type II (Dunnigan Type; Familial Lipodystrophy of Limbs and Lower Trunk; Reverse Partial Lipodystrophy; Lipoatrophic Diabetes): Characterized by partial lipodystrophy with onset around puberty after a normal fat distribution in early childhood. The subcutaneous adipose tissue gradually disappears from the upper and lower extremities and the gluteal and truncal regions. Clinical features include a muscular appearance with prominent superficial veins, a double chin, fat neck, or cushingoid appearance. Adipose tissue may accumulate in the axillae, back, labia majora, and intraabdominal region. Acanthosis nigricans, hirsutism, and menstrual abnormalities (Polycystic Ovary Syndrome) occur occasionally. Affected patients are insulin resistant and may develop glucose intolerance and diabetes mellitus after age 20 years. It is associated to a specific mutation of the lamin A/C (LMNA) gene.

  • Familial Partial Lipodystrophy Type III (Familial Partial Lipodystrophy Associated with PPARG Mutations): Characterized by frank type II diabetes requiring insulin treatment and severe sustained hypertension. This form of FPL has only been reported in approximately 30 individuals. Fat loss is more prominent in the calves and forearms than in the upper arms and thighs. Other features include hypertriglyceridemia, cirrhosis, pancreatitis, and ...

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