Lipodystrophies [49 genes]

Group of hereditary or acquired disorders characterized by a loss of subcutaneous adipose tissue, either with a generalized or focal distribution of the involvement. Fat loss in some places is usually accompanied by redistribution of adipose tissue, leading to fat hypertrophy in other regions.

There are partial and generalized forms:

• Familial partial lipodystrophy: it is a group of lipodystrophies of genetic origin characterized, in most cases, by a loss of fat in the extremities and buttocks that begins in childhood or early adulthood. It is frequently associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia, and hepatic steatosis.
• Congenital generalized lipodystrophy: It is a rare form of autosomal recessive lipodystrophy characterized by the association of generalized lipoatrophy with acromegalic features, muscular hypertrophy, insulin resistance, hypertriglyceridemia and hepatic steatosis.

In addition to these two large groups of entities, several complex syndromes associate lipodystrophy in their phenotype.

• Familial partial lipodystrophy: 1 / 100,000 newborns (ORPHA:98306).
• Congenital generalized lipodystrophy: 1-9 / 1,000,000 (ORPHA:528).

Recommended service when a patient is diagnosed with partial or generalized forms of lipodystrophy, with or without other extracutaneous manifestations present in the patient, as long as a form secondary to a well-identified trigger is not suspected. Thus, this service does not only include genes associated with partial or generalized forms of lipodystrophy but also those syndromes in which lipodystrophy occurs at least occasionally. Therefore, when suspected lipodystrophy of genetic origin, regardless of the accompanying manifestations, this panel can be an initial approach.

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities.

Service indicated when in a patient, syndromic or not, the presence of lipodystrophy is evident in their phenotype, and a genetic origin of the disease is suspected.