Dunnigan familial partial lipodystrophy

Dunnigan Familial Partial Lipodystrophy (also known as FPLD, FPLD2, or Kobberling-Dunnigan Syndrome) is a rare genetic disorder characterized by the abnormal distribution of fat in the body. It is a type of lipodystrophy, a group of conditions that affect the body's ability to produce, use, and store fat.

Symptoms[edit | edit source]

The symptoms of Dunnigan Familial Partial Lipodystrophy typically become apparent during puberty. Affected individuals may initially appear normal, but as they reach puberty, they begin to lose subcutaneous fat from the arms, legs, and trunk. This is often accompanied by an increase in fat deposits in the face, neck, and intra-abdominal region. Other symptoms may include insulin resistance, hypertriglyceridemia, diabetes mellitus, and polycystic ovary syndrome.

Causes[edit | edit source]

Dunnigan Familial Partial Lipodystrophy is caused by mutations in the LMNA gene. This gene provides instructions for making a protein that is an important component of the nuclear envelope, which surrounds the nucleus in cells. Mutations in the LMNA gene disrupt the normal structure and function of the nuclear envelope, leading to the abnormal distribution of fat in the body.

Diagnosis[edit | edit source]

Diagnosis of Dunnigan Familial Partial Lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the presence of a mutation in the LMNA gene.

Treatment[edit | edit source]

There is currently no cure for Dunnigan Familial Partial Lipodystrophy. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, such as a healthy diet and regular exercise, and medications to manage insulin resistance and high triglyceride levels.