Familial Partial Lipodystrophy
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Familial Partial Lipodystrophy is not the name you expected.
Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective, progressive loss of body fat (adipose tissue) from various areas of the body. Individuals with FPL often have reduced subcutaneous fat in the arms and legs and the head and trunk regions may or may not have loss of fat. Conversely, affected individuals may also have excess subcutaneous fat accumulation in other areas of the body, especially the neck, face and intra-abdominal regions. Subcutaneous fat is the fatty or adipose tissue layer that lies directly beneath the skin. In most cases, adipose tissue loss begins during puberty. FPL can be associated with a variety of metabolic abnormalities. The extent of adipose tissue loss usually determines the severity of the associated metabolic complications. These complications can include an inability to properly breakdown a simple sugar known as glucose (glucose intolerance), elevated levels of triglycerides (fat) in the blood (hypertriglyceridemia), and diabetes. Additional findings can occur in some cases. Six different subtypes of FPL have been identified. Each subtype is caused by a mutation in a different gene. Four forms of FPL are inherited as autosomal dominant traits; one form is inherited as an autosomal recessive trait. The mode of inheritance of FPL, Kobberling variety is unknown.
Lipodystrophy is a general term for a group of disorders that are characterized by complete (generalized) or partial loss of adipose tissue. In addition to FPL, there are other inherited forms of lipodystrophy. Some forms of lipodystrophy are acquired at some point during life. The degree of severity and the specific areas of the body affected can vary greatly among the lipodystrophies. Some individuals may only develop cosmetic problems; other can develop life-threatening complications. The loss of adipose tissue that characterizes these disorders is sometimes referred to as lipoatrophy rather than lipodystrophy by some physicians. FPL was first described in the medical literature in 1970s independently by three groups of physicians, including Doctors Ozer, Kobberling and Dunnigan.
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Last Updated: 6/16/2015
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