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Familial partial lipodystrophy (FPLD) is a group of diseases characterized by an abnormal distribution of fat around the body. Specifically, fat is lost in the arms, legs, and hips, and gained around the face and liver. Symptoms usually develop around puberty and include problems breaking down food and resistance to the hormone that helps control blood sugar (insulin). Insulin resistance can eventually lead to diabetes. Other symptoms may include inflammation of the pancreas (pancreatitis), heart problems, and high blood pressure (hypertension). There are at least six subtypes of FPLD. The most common form is type 2.
Familial partial lipodystrophy can be caused by a change (mutation) in one of several genes. These genes are responsible for making proteins that play an important role in fat storage. Changes in any of these genes can reduce or eliminate the function of the proteins they produce. This impairs the development, structure, or function of the fat cells (adipocytes), making them unable to properly store and use fats. The condition can be inherited in an autosomal dominant or autosomal recessive manner. Treatment may require a team of specialists who can monitor the patient for any health changes and prescribe a special diet and medication to treat the symptoms of the disease.
Source: GARD Last updated on 05-01-20
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