Familial partial lipodystrophy

Familial partial lipodystrophy
Synonyms	FPLD
Pronounce	N/A
Specialty	N/A
Symptoms	Loss of subcutaneous fat, insulin resistance, hypertriglyceridemia, acanthosis nigricans, polycystic ovary syndrome
Complications	Diabetes mellitus, cardiovascular disease, non-alcoholic fatty liver disease
Onset	Childhood or adolescence
Duration	Lifelong
Types	Dunnigan-type familial partial lipodystrophy, Köbberling-type familial partial lipodystrophy, Mandel's type familial partial lipodystrophy
Causes	Genetic mutations (e.g., LMNA, PPARG, AKT2)
Risks	Family history
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	Cushing's syndrome, metabolic syndrome, HIV-associated lipodystrophy
Prevention	N/A
Treatment	Diet, exercise, metformin, insulin sensitizers, lipid-lowering agents
Medication	Metformin, thiazolidinediones, fibrates
Prognosis	N/A
Frequency	Rare
Deaths

Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by the selective loss of subcutaneous fat from various parts of the body. This condition is inherited in an autosomal dominant manner, meaning one copy of the altered gene in each cell is sufficient to cause the disorder.

Symptoms

The symptoms of familial partial lipodystrophy typically become noticeable during puberty. Affected individuals often have a lack of fatty tissue in the arms, legs, and trunk, and may have excessive fat deposits in the face and neck. Other symptoms may include insulin resistance, hypertriglyceridemia, hypertension, and diabetes mellitus.

Causes

Familial partial lipodystrophy is caused by mutations in the LMNA or PPARG genes. These genes provide instructions for making proteins that are involved in the regulation of fat cell differentiation and growth.

Diagnosis

Diagnosis of familial partial lipodystrophy is based on the clinical symptoms, family history, and genetic testing. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for familial partial lipodystrophy is focused on managing the symptoms and preventing complications. This may include lifestyle modifications, medication to control diabetes and high cholesterol, and in some cases, plastic surgery to improve appearance.

See also

• Lipodystrophy
• Genetic disorder
• Insulin resistance
• Diabetes mellitus

References

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