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. This usually leads to the development of diabetes and a higher risk of cardiovascular disease.
Lipodystrophy types are the following:
- Congenital generalized lipodystrophy (CGL) is caused by a genetic mutation and can often be detected within the first year of a child’s birth. This is because the body’s inability to form fat tissue may make a child’s muscles and veins more visible. A person with CGL may develop hyperphagia—a term to describe excessive hunger (and overeating)—possibly due to low levels of the fat hormone called leptin. People with this subtype are likely to develop diabetes due to an early struggle with high sugar (glucose) levels in the blood.
- Familial partial lipodystrophy (FPLD) is also a genetic condition but can be more difficult to diagnose due to a child’s normal-seeming appearance at birth and during early childhood. However, as the child ages, the fat loss becomes noticeable, and excess fat deposits may show up in other areas of the body, such as the face and neck. Women with FPLD may experience menstrual irregularity, but not infertility.
The second type of this disease includes patients who acquire it during their lifetime:
- Acquired generalized lipodystrophy (AGL) can be especially difficult to detect given its progression of fat tissue loss, typically starting in teenage years. (In rare cases, patients have developed the condition after age 30). AGL affects about three times as many women as men. While sources of the disorder vary, some potential reasons it might develop include panniculitis (a rare skin disorder that affects the layer of fat beneath the skin) and autoimmune diseases. Those with AGL suffer from high triglyceride (a type of fat) levels and type 2 diabetes.
- Acquired partial lipodystrophy (APL) typically affects only the upper body, including the face and neck. The subtype of this disease is four times more common in women and patients tend to begin losing fat in childhood or teenage years. Some individuals may carry excess fat around their abdomen, legs or the buttocks. Unlike other subtypes, APL is less often linked to metabolic complications, but it can severely damage the kidneys due to fat accumulation (and resulting inflammation) on the organ. APL has also been associated with autoimmune diseases like dermatomyositis, lupus and proteinuria (which is defined as detectable protein in the urine).