Lipodystrophy

Also known as: lipodystrophy syndrome.

What is lipodystrophy?

Lipodystrophy is a rare medical condition in which a child has an abnormality in how the body stores fat. Children with lipodystrophy may have very little body fat (fat loss may range from very small areas or total body absence of fat) but store a lot of fat in other parts of the body like the blood or in internal organs. This is often suspected when thin children present with other disorders such as diabetes, a fatty liver, a large spleen, a fatty heart among other presentations.

What causes lipodystrophy?

Some forms of lipodystrophy are caused by a number of genetic abnormalities (mutations) that are passed from one or both parents to children. In other cases, lipodystrophy occurs as an acquired complication of medications, autoimmune diseases (like rheumatoid arthritis) or infections.

What are the symptoms of lipodystrophy?

Inherited lipodystrophy has two forms (familial partial lipodystrophy and congenital generalized lipodystrophy), each with different subtypes. Symptoms depend on which particular subtype your child has. Your Nicklaus Children's Hospital Endocrinology team will explain the variety of types and symptoms that may present.

Some symptoms include various presentations of body fat loss, skin changes, increased hunger, rapid growth, highly developed muscles, a protruding belly, advanced bone age, mental retardation, early puberty and other symptoms.

What are lipodystrophy care options?

Treatment depends on the type of lipodystrophy present but may include, a low fat diet, physical exercise, and a variety of medications to manage the different clinical presentations.

Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: November 15, 2021 03:01 PM

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