Familial hypertriglyceridemia

Familial hypertriglyceridemia is a genetic disorder that results in high levels of triglycerides in the blood. This condition is inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the disorder onto their children.

Symptoms

The symptoms of familial hypertriglyceridemia can vary greatly from person to person. Some people may not experience any symptoms at all, while others may experience symptoms such as xanthomas (fatty deposits under the skin), pancreatitis (inflammation of the pancreas), and hepatosplenomegaly (enlargement of the liver and spleen).

Causes

Familial hypertriglyceridemia is caused by mutations in the lipoprotein lipase (LPL) gene. This gene provides instructions for making an enzyme that plays a crucial role in the breakdown of triglycerides. Mutations in the LPL gene disrupt the function of this enzyme, leading to an accumulation of triglycerides in the blood.

Diagnosis

Diagnosis of familial hypertriglyceridemia is based on a physical examination, medical history, and blood tests to measure the levels of triglycerides in the blood. Genetic testing may also be performed to confirm the diagnosis.

Treatment

Treatment for familial hypertriglyceridemia primarily involves lifestyle changes such as a low-fat diet and regular exercise. Medications may also be prescribed to help lower triglyceride levels.

See also

• Hyperlipidemia
• Genetic disorder
• Triglycerides

References

Familial hypertriglyceridemia Resources
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