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Familial partial lipodystrophy and related disorders are called laminopathies. They're usually called by either an acquired, or present-a-birth gene mutation. Citation: Nature Genetics 24, 103 - 104 (2000) doi:10.1038/72734 PUSHING THE ENVELOPE ON LIPODYSTROPHY by Jeffrey S Flier Division of Endocrinology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Brookline, Massachusetts 02215, USA. jflier@bidmc.harvard.edu Several exerpts from this article, written by researcher Jeffrey S. Flier, describe the disease as follows: "Autosomal dominant partial lipdystrophy (PLD), in which regional adipose [fat] loss is coupled with insulin resistance, is strongly associated with missense mutations in LMNA, encoding lamin A/C—a component of the nuclear envelope. This finding indicates that other proteins and functions of the nuclear envelope may have bearing on disorders of adipose tissue and insulin action. "People with FPLD are born with normal adipose tissue, but lose subcutaneous fat from the extremities, trunk and gluteal regions following puberty.(Symptoms are prodromal and can become overtly evident at any age. [1]) " ...the gene encoding the nuclear envelope protein lamin A/C (LMNA) are responsible for three disorders: Emery-Dreifuss muscular dystrophy1, dilated cardiomyopathy with conduction-system disease2 and—as now reported by Sue Shackleton and colleagues3 (see page 153) and Henian Cao and Robert Hegele in Human Molecular Genetics 4—Dunnigan-type familial partial lipodystrophy (FPLD)." "Curiously, as fat is disappearing from these regions, excess fat is deposited in the face, neck, back and labia majora, whereas normal fat stores are maintained between muscles, in the abdominal and thoracic cavities, and within the bone marrow. The pattern of fat distribution (which leads to a round face and fat pad on the upper back), together with insulin resistance, commonly results in clinicians testing for Cushing syndrome (glucocorticoid excess), only to obtain negative results." [1] added by RareShare user The article is the most comprehensive and informational of any I've found describing this disease. Many physicians have never heard of lipodystrophy (unusual deposition of fat), lipomatosis (fat accumulation), or lipoatrophy (fat loss).

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It is very hard to get a diagnosis, especially because there are several closely-related diseases, the most prominent one is thought to be caused by a protease inhibitor medication that is used to treat HIV+ symptoms.

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