Kobberling-Dunnigan syndrome

Kobberling-Dunnigan syndrome is a rare genetic disorder characterized by partial lipodystrophy, a condition that causes abnormal distribution of fat in the body. The syndrome is also known as Familial Partial Lipodystrophy (FPLD) and is primarily associated with metabolic abnormalities such as insulin resistance, hypertriglyceridemia, and diabetes mellitus.

Etiology

Kobberling-Dunnigan syndrome is caused by mutations in the LMNA gene, which provides instructions for making proteins essential for the structural support of the cell. The mutations lead to the production of abnormal proteins, disrupting the normal process of fat storage and distribution in the body.

Clinical Features

The clinical features of Kobberling-Dunnigan syndrome typically become apparent during puberty. Affected individuals lose subcutaneous fat from the extremities, buttocks, and trunk, while fat accumulation may occur in the face, neck, and intra-abdominal region. This abnormal fat distribution often gives individuals a muscular appearance, particularly in the arms and legs.

In addition to lipodystrophy, individuals with Kobberling-Dunnigan syndrome often develop metabolic abnormalities. These can include insulin resistance leading to diabetes mellitus, high levels of triglycerides in the blood (hypertriglyceridemia), and fatty liver. Women with this condition may also have menstrual irregularities and polycystic ovaries.

Diagnosis

Diagnosis of Kobberling-Dunnigan syndrome is based on clinical evaluation, detailed patient history, and specialized tests such as genetic testing. Genetic testing can confirm a diagnosis by identifying mutations in the LMNA gene.

Treatment

There is currently no cure for Kobberling-Dunnigan syndrome. Treatment is symptomatic and supportive, focusing on managing metabolic abnormalities and preventing complications. This may include lifestyle modifications, medication to control diabetes and hypertriglyceridemia, and hormone replacement therapy for women with menstrual irregularities.

Prognosis

The prognosis for individuals with Kobberling-Dunnigan syndrome varies. While the syndrome itself is not life-threatening, associated complications such as diabetes and cardiovascular disease can impact life expectancy and quality of life.

See Also

• Lipodystrophy
• Insulin resistance
• Diabetes mellitus
• Hypertriglyceridemia

NIH genetic and rare disease info

• NIH info on Kobberling-Dunnigan syndrome

Kobberling-Dunnigan syndrome is a rare disease.

Kobberling-Dunnigan syndrome Resources
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