Hypobetalipoproteinemia

Hypobetalipoproteinemia (pronounced: hypo-be-ta-li-po-pro-tein-e-mia) is a rare genetic disorder characterized by low levels of beta-lipoproteins and low cholesterol levels.

Etymology

The term "Hypobetalipoproteinemia" is derived from the Greek words "hypo" meaning low, "beta" referring to the second letter of the Greek alphabet, "lipos" meaning fat, "proteios" meaning of the first quality, and "haima" meaning blood.

Definition

Hypobetalipoproteinemia is a condition that is inherited in an autosomal dominant manner. It is characterized by significantly lower than normal levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein B (apoB), a protein that is essential for the production of LDL cholesterol.

Symptoms

The symptoms of Hypobetalipoproteinemia can vary greatly from person to person. Some individuals may not exhibit any symptoms, while others may experience gastrointestinal issues, neurological problems, and liver disease.

Diagnosis

The diagnosis of Hypobetalipoproteinemia is typically made through a blood test that measures the levels of LDL cholesterol and apoB. Genetic testing may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Hypobetalipoproteinemia. Treatment is typically focused on managing the symptoms and preventing complications. This may include dietary modifications and vitamin supplements.

Related Terms

• Familial hypobetalipoproteinemia
• Abetalipoproteinemia
• Cholesterol
• Lipoprotein
• Apolipoprotein B

External links

• Medical encyclopedia article on Hypobetalipoproteinemia
• Wikipedia's article - Hypobetalipoproteinemia

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