Lipodystrophy

This information is useful for children, adults, and older adults
Legs of a tennis player, who may have lipodystrophy, a group of rare syndromes that causes a person to lose fat tissue on some parts of the body, while gaining it in others.
Why Yale Medicine?
  • We offer genetic sequencing to detect lipodystrophy syndromes.
  • Our physicians deal with challenging, rare disease cases on a more regular basis than other non-academic health centers.
  • We help patients access the best drug treatments tailored to the specific lipodystrophy syndrome.

Body fat plays a vital role in human health. The fat, or adipose, tissue just underneath our skin keeps us warm and provides protective cushioning. It also helps maintain healthy sugar levels in the blood, a complex metabolic process.  

Lipodystrophy is a group of rare syndromes that cause a person to lose fat from some parts of the body, while gaining it in others, including on organs like the liver. A person can be born with lipodystrophy or develop it later in life. In either case, the resulting inability to maintain fat tissue beneath the skin can have severe, life-threatening consequences over time.

Health complications usually begin early in the disease process, because with little fat—and therefore low levels of its accompanying hormone, leptin—the body has a difficult time properly processing sugar (glucose) and fats (lipids). As a result, these substances build up in the bloodstream, which usually leads to the development of diabetes (due to consistently high sugar levels) and a higher risk of cardiovascular disease (due to cholesterol build-up in the arteries).

Yale Medicine’s physicians, who have expertise in rarely seen disorders, work to ensure that lipodystrophy is detected as early as possible.