Familial partial lipodystrophy
Familial Partial Lipodystrophy (pronunciation: fa-mil-ial par-shul lip-o-dis-tro-fee) is a rare genetic disorder characterized by the selective loss of subcutaneous fat from various parts of the body.
Etymology
The term "Familial Partial Lipodystrophy" is derived from the following roots: "Familial" (from Latin familia meaning family), indicating that the condition is inherited; "Partial", meaning not complete; and "Lipodystrophy" (from Greek lipos meaning fat and dystrophy meaning abnormal growth or development), referring to the abnormal distribution of fat in the body.
Definition
Familial Partial Lipodystrophy (FPL) is a condition that disrupts the normal distribution of fat in the body. Beginning in puberty, people with FPL gradually lose the fat that normally surrounds and insulates muscles and organs in the arms, legs, and trunk. They also develop an excess of fat around the face and neck, and sometimes on the palms of the hands and soles of the feet.
Symptoms
The symptoms of Familial Partial Lipodystrophy can vary greatly from person to person. Common symptoms include loss of fat in the arms, legs, and trunk, and accumulation of fat in the face, neck, and sometimes the palms and soles. Other symptoms may include insulin resistance, diabetes, high levels of triglycerides in the blood, and pancreatitis.
Causes
Familial Partial Lipodystrophy is caused by mutations in several genes, including the LMNA gene and the PPARG gene. These genes provide instructions for making proteins that are involved in the development and maintenance of adipose tissue.
Treatment
There is currently no cure for Familial Partial Lipodystrophy. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle changes, medication to manage insulin resistance and high triglyceride levels, and in some cases, plastic surgery to improve appearance.
See Also
External links
- Medical encyclopedia article on Familial partial lipodystrophy
- Wikipedia's article - Familial partial lipodystrophy
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