Familial hypertriglyceridemia

Familial Hypertriglyceridemia

Familial hypertriglyceridemia (pronounced: fa-MIL-ee-al HY-per-try-glis-er-I-dee-mee-a) is a genetic disorder that results in high levels of triglycerides in the blood.

Etymology

The term "Familial hypertriglyceridemia" is derived from the Latin word "familia" meaning family, the Greek word "hyper" meaning over or above, and "triglyceridemia" referring to the presence of triglycerides in the blood.

Definition

Familial hypertriglyceridemia is a condition characterized by an elevation of triglycerides in the bloodstream due to a genetic mutation. This condition is inherited in an autosomal dominant manner, meaning an affected person has a 50% chance of passing the disorder to their offspring.

Symptoms

The symptoms of familial hypertriglyceridemia can vary greatly among individuals. Some people may not show any symptoms, while others may experience symptoms such as abdominal pain, pancreatitis, and xanthomas (yellowish deposits of fat under the skin).

Causes

Familial hypertriglyceridemia is caused by a mutation in a gene that regulates the amount of triglycerides in the body. This mutation results in an overproduction or decreased removal of triglycerides, leading to high levels in the blood.

Diagnosis

Diagnosis of familial hypertriglyceridemia is based on a blood test showing high levels of triglycerides. Genetic testing may also be used 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.

Related Terms

• Hyperlipidemia
• Triglycerides
• Pancreatitis
• Xanthomas

External links

• Medical encyclopedia article on Familial hypertriglyceridemia
• Wikipedia's article - Familial hypertriglyceridemia

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