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Familial partial lipodystrophy type Köbberling is a rare subtype of early- onset familial partial lipodystrophy (FPL), characterized by fat loss in the lower limbs and abnormal fat increase in other areas. The symptoms are similar to those seen in familial partial lipodystrophy, Dunnigan type (the most common type of FPL). However, only arms and legs have fat loss, and there is a normal or slightly increased fat distribution on the face, neck, and trunk, with excess of belly fat (central obesity). Metabolic abnormalities including insulin resistance, high blood pressure (hypertension), and high levels of fat in the blood (hypertriglyceridemia) have also been reported. This form of FPL has only been reported in women. Inheritance seems to be autosomal dominant, but the exact cause is not known. Treatment includes medication for the metabolic problems, diet and exercises, and in some cases, surgical procedures.
Source: GARD Last updated on 05-01-20
There are not many patients described with this subtype of lipodystrophy and therefore, treatment is still not well established. However, Roux-en-Y gastric bypass (RYGBP) is a recognized treatment for morbid obesity, which reverses or prevents the main problems of the insulin resistance syndrome, which is also a common finding in the partial lipodystrophy syndromes. As far as we know there are only a few reports about Roux-en-Y gastric bypass (RYGBP) surgery as a treatment for the metabolic problems associated with familial partial lipodystrophy.
The first reported case about the use of RYGBP to treat severe insulin resistance and hypertriglyceridemia associated with partial lipodystrophy was about a 41-year-old woman with an unknown type of familiar partial lipodystrophy, who had severe insulin resistance and had failed multiple treatments. Within a few days of surgery, her blood sugar levels and blood fat levels had improved. She was able to have a pregnancy and delivered a healthy baby.
One report was about a 55-year-old a woman with familiar partial lipodystrophy (FPL) who was diagnosed as FPL type 1 (Köbberling type of FPL) based on her physical exam findings (lack of fat in legs and arms and excess fat in her chin and face, as well as belly fat). Her medical problems included diabetes, high levels of fats in the blood, pancreatitis, heart coronary artery disease, high blood pressure, depression, and asthma. She did not improve with any medication, and it was decided that she should do the gastric bypass surgery. On follow-up, she was noted to have lost weight, in her face and abdomen. A year and a half after the procedure, she had lost 30% of her former body weight and her blood pressure was normal. Sixteen months after surgery, her blood fat and her diabetes were well controlled while off all diabetes and lipid medications.
In another report, a 28-year-old women diagnosed with familiar partial lipodystrofphy, Dunnigan type, who did not improve with medication had excellent results with the surgery, normalizing the fat stores and improving all metabolic problems.
These reports concluded that gastric bypass, even when patients are not obese, may be a treatment option for those patients with FPL who have severe metabolic problems that cannot be controlled with medication alone.
Last updated on 05-01-20
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