What Is Inherited Lipodystrophy?

Lipodystrophy is a problem with the way your body uses and stores fat. It's called "inherited" because you're born with it. It comes from the genes you got from one or both of your parents. It makes you lose the fat under your skin, so it can change the way you look. And it can also cause other changes in your body.

Scientists have learned a great deal about how this disease works. You can't cure it, but with your doctor's help, the right treatment, a low-fat diet, and plenty of exercise, it's something you can live with.

Because fat tissue makes the hormone leptin, people with inherited lipodystrophy often don't have enough of this chemical. Leptin tells your body you've eaten enough and to make insulin. The condition can also make fat build up in places it shouldn't, like the blood, heart, kidneys, liver, and pancreas. This condition causes other problems, too, including diabetes, high cholesterol and triglycerides, and fatty liver disease.

Inherited lipodystrophy is actually a group of related illnesses. The most common are:

• Congenital generalized lipodystrophy (CGL), also called Berardinelli-Seip syndrome
• Familial partial lipodystrophy (FPL)

Causes

Researchers have found several genes that cause inherited lipodystrophy. That's why there are different subtypes. Sometimes, just one bad gene from one parent can cause it; sometimes, you must get a gene from each parent.

It’s also possible to have a bad gene but not get the disease.

Symptoms

The two main kinds of inherited lipodystrophy have several subtypes. Each of those has its own specific symptoms. Their severity varies, too.

CGL. Babies look very muscular because they have almost no body fat. Most have a large belly button or a hernia, or bulging, around it. They grow fast and are very hungry. Their skin may be dark, thick, and velvety in places, especially at the neck, armpits, and where their legs meet the trunk of their body.

Infants usually develop an enlarged liver. Young kids have problems controlling their blood sugar and triglyceride levels. Some children will have trouble thinking and learning.