Hypobetalipoproteinemia

Hypobetalipoproteinemia is a rare genetic disorder characterized by low levels of lipoproteins, specifically low-density lipoprotein (LDL) and apolipoprotein B (apoB). This condition can be either familial or acquired. Familial hypobetalipoproteinemia is an autosomal co-dominant disorder, while the acquired form is often associated with other diseases such as malnutrition, malabsorption, and liver disease.

Symptoms

The symptoms of hypobetalipoproteinemia can vary greatly among individuals. Some people may not show any symptoms, while others may experience gastrointestinal problems, neurological issues, and liver disease. Symptoms can include:

• Fatigue
• Diarrhea
• Steatorrhea (fatty stools)
• Ataxia (lack of muscle control)
• Retinitis pigmentosa (a group of rare genetic disorders that involve a breakdown and loss of cells in the retina)

Causes

Hypobetalipoproteinemia is caused by mutations in the APOB gene or the microsomal triglyceride transfer protein (MTP) gene. These genes are involved in the production and function of lipoproteins. Mutations in these genes can lead to decreased levels of LDL and apoB, leading to hypobetalipoproteinemia.

Diagnosis

Diagnosis of hypobetalipoproteinemia is based on the presence of low levels of LDL and apoB in the blood. Other tests may include:

• Blood test
• Genetic testing
• Liver biopsy

Treatment

There is no cure for hypobetalipoproteinemia. Treatment is focused on managing symptoms and preventing complications. This may include:

• Dietary modification
• Vitamin supplementation
• Regular monitoring of liver function

See also

• Lipoprotein metabolism disorder
• Abetalipoproteinemia
• Hyperlipoproteinemia

Hypobetalipoproteinemia Resources
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