Familial dysbetalipoproteinemia

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Familial dysbetalipoproteinemia (pronounced: fa-MIL-ee-al dis-be-ta-li-po-pro-TEEN-e-me-a) is a genetic disorder characterized by elevated levels of a specific type of cholesterol in the blood.

Etymology

The term "Familial dysbetalipoproteinemia" is derived from the Greek words "dys" meaning bad or difficult, "beta" referring to the type of lipoprotein, and "lipoproteinemia" meaning presence of lipoproteins in the blood. "Familial" indicates that the condition is inherited.

Definition

Familial dysbetalipoproteinemia, also known as Type III hyperlipoproteinemia or Broad beta disease, is a rare inherited condition that leads to the inability to properly break down certain fats, resulting in high levels of cholesterol and triglycerides in the bloodstream.

Symptoms

Symptoms of familial dysbetalipoproteinemia may include xanthomas (yellowish deposits of fat under the skin), chest pain, and other signs of coronary artery disease.

Causes

Familial dysbetalipoproteinemia is caused by a mutation in the APOE gene. This gene provides instructions for making a protein that combines with fats (lipids) in the body to form molecules known as lipoproteins.

Diagnosis

Diagnosis of familial dysbetalipoproteinemia is based on blood tests showing high levels of cholesterol and triglycerides, as well as genetic testing to identify mutations in the APOE gene.

Treatment

Treatment for familial dysbetalipoproteinemia typically involves dietary modifications and medications to lower cholesterol and triglyceride levels.

See also

External links

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