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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

Treatment[edit | edit source]

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[edit | edit source]

Hypobetalipoproteinemia Resources
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