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Disease or Condition — Hormonal, Nutritional, Metabolic, and Immune Disorders:
APOA1 deficiency

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Apolipoprotein A-I (ApoA-I) deficiency is a rare genetic disorder that affects the body's ability to transport cholesterol and other fats in the blood. It is caused by mutations in the APOA1 gene, which provides instructions for making the ApoA-I protein. This protein is a major component of high-density lipoprotein (HDL), which is often referred to as 'good' cholesterol because it helps remove cholesterol from the arteries. People with ApoA-I deficiency have low levels of HDL, which can lead to an increased risk of heart disease. Symptoms of ApoA-I deficiency include high levels of cholesterol and triglycerides in the blood, as well as an increased risk of developing pancreatitis. Treatment typically involves lifestyle changes, such as eating a healthy diet and exercising regularly, as well as medications to lower cholesterol and triglyceride levels.

  • apolipoprotein A-I deficiency
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