What is lipodystrophy?
Lipodystrophy occurs when there are abnormalities within the fat tissue. There is progressive loss and redistribution of fat.
There are a number of different forms of lipodystrophy, such as acquired, familial, and generalized.
What are the symptoms of lipodystrophy?
The major symptom is the loss and redistribution of fat, but this can appear differently throughout affected individuals. For example, some people see excess fat on the upper portion of the body and minimal fat on the lower portion, while others experience reduced fat in general, and others have specific areas of their body that are thinner.
Depending on the form of lipodystrophy that one has, there can be additional symptoms. For example, the congenital generalized form sees symptoms like excessive hunger.
What causes lipodystrophy?
The cause depends on which form of lipodystrophy that one has. For example, inherited forms can be the result of a number of genetic mutations, such as AGPAT2, BSCL2, CAV1, and PTRF. Research has also found that leptin, a chemical that helps in the breakdown of fat, is found in lower amounts in lipodystrophy patients.
Acquired lipodystrophy occurs after various causes, such as infections, autoimmune diseases, repeated injections or pressure in the same place, and HIV treatments. In some cases, physicians do not know the cause.
How is lipodystrophy diagnosed?
Doctors will begin with a physical examination before looking for the characteristic symptoms. Blood tests are often used, and genetic testing is also used for the inherited forms.
What are the treatments for lipodystrophy?
Doctors recommend a low-fat diet and will treat any associated conditions as well. If there is a known cause, doctors will work to address it. The FDA has also approved metreleptin as a treatment for generalized lipodystrophy, as it can treat complications of leptin deficiencies.