Hypobetalipoprotéinemia, familial

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Familial Hypobetalipoproteinemia
Specialty	Endocrinology, Genetics
Causes	Genetic mutations
Diagnostic method	Blood tests, genetic testing
Treatment	Dietary modifications

Familial Hypobetalipoproteinemia (FHBL) is a rare genetic disorder characterized by low levels of low-density lipoprotein (LDL) cholesterol in the blood. This condition is caused by mutations in specific genes that are involved in the metabolism of lipoproteins, which are particles that transport cholesterol and other fats through the bloodstream. FHBL can lead to various health issues, including fat malabsorption and neurological problems due to vitamin E deficiency.

Causes

FHBL is primarily caused by mutations in the APOB gene, which encodes the apolipoprotein B (apoB), a critical component of LDL particles. Mutations in this gene can lead to the production of a truncated form of apoB, resulting in the formation of LDL particles that are rapidly cleared from the bloodstream.

Symptoms

Individuals with FHBL may be asymptomatic or present with symptoms related to fat malabsorption, such as steatorrhea (fatty stools) and deficiencies in fat-soluble vitamins (A, D, E, K). Neurological symptoms may occur due to vitamin E deficiency, including peripheral neuropathy and ataxia.

Diagnosis

Diagnosis of FHBL involves blood tests that show low levels of LDL cholesterol and apolipoprotein B. Genetic testing can confirm the presence of mutations in the APOB gene or other genes associated with the condition.

Treatment

Treatment for FHBL focuses on managing symptoms and preventing complications. Dietary modifications to ensure adequate intake of fat-soluble vitamins and supplementation with vitamin E may be recommended. Regular follow-up with a healthcare provider is important to monitor for potential complications.

See also

• Hyperlipidemia
• Apolipoprotein B
• Low-density lipoprotein

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