Kobberling–Dunnigan syndrome
Kobberling–Dunnigan syndrome is a rare genetic disorder characterized by the abnormal distribution of body fat and insulin resistance. It is also known as Familial Partial Lipodystrophy (FPLD), and is a form of lipodystrophy.
Etiology[edit | edit source]
Kobberling–Dunnigan syndrome is caused by mutations in the LMNA gene, which provides instructions for making a protein that is an important component of the nuclear envelope. The mutations interfere with the normal production of this protein, leading to the characteristic features of the disorder.
Symptoms[edit | edit source]
The most noticeable symptom of Kobberling–Dunnigan syndrome is the abnormal distribution of body fat. Individuals with this disorder typically lose fat in their arms, legs, and buttocks, while gaining fat in the face, neck, and abdomen. This can lead to a distinctive appearance, with a thin lower body and a disproportionately large upper body.
Other symptoms of Kobberling–Dunnigan syndrome include insulin resistance, which can lead to type 2 diabetes, and abnormalities of the skin, hair, and nails. Some individuals may also develop hepatic steatosis (fatty liver), polycystic ovary syndrome, and other complications.
Diagnosis[edit | edit source]
Diagnosis of Kobberling–Dunnigan syndrome is based on the characteristic physical features and confirmed by genetic testing. The testing can identify mutations in the LMNA gene that cause the disorder.
Treatment[edit | edit source]
There is currently no cure for Kobberling–Dunnigan syndrome. Treatment is focused on managing the symptoms and preventing complications. This may include lifestyle changes to manage insulin resistance and diabetes, and medications to control high cholesterol and triglyceride levels.
Prognosis[edit | edit source]
The prognosis for individuals with Kobberling–Dunnigan syndrome varies. Some individuals may have a normal lifespan, while others may develop serious complications such as heart disease and liver disease.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Kobberling–Dunnigan syndrome is a rare disease.
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