About Familial LCAT deficiency

What is Familial LCAT deficiency?

Familial LCAT deficiency is a rare inherited disorder that affects the body's ability to process fats. It is caused by a mutation in the gene that codes for the enzyme lecithin-cholesterol acyltransferase (LCAT). People with this disorder have abnormally low levels of LCAT, which leads to an accumulation of cholesterol and other fats in the blood. This can lead to a variety of health problems, including kidney disease, corneal opacities, and an increased risk of heart attack and stroke.

What are the symptoms of Familial LCAT deficiency?

The most common symptoms of Familial LCAT deficiency include corneal opacities, high levels of cholesterol and triglycerides in the blood, and kidney problems. Other symptoms may include anemia, fatigue, and joint pain. In some cases, people with Familial LCAT deficiency may also experience vision problems, hearing loss, and neurological problems.

What are the causes of Familial LCAT deficiency?

Familial LCAT deficiency is caused by mutations in the LCAT gene, which is responsible for producing the enzyme lecithin-cholesterol acyltransferase (LCAT). Mutations in this gene can lead to a decrease in the amount of LCAT enzyme produced, resulting in a buildup of cholesterol in the blood and other tissues. This can lead to a variety of health problems, including high cholesterol, kidney disease, and corneal opacities.

What are the treatments for Familial LCAT deficiency?

The primary treatment for Familial LCAT deficiency is a low-fat diet and regular monitoring of cholesterol levels. Other treatments may include medications such as statins, fibrates, and niacin to help lower cholesterol levels. In some cases, a liver transplant may be necessary to treat the condition.

What are the risk factors for Familial LCAT deficiency?

1. Family history of Familial LCAT deficiency
2. Genetic mutations in the LCAT gene
3. Age (most commonly diagnosed in adults)
4. Gender (more common in males)
5. Ethnicity (more common in people of Ashkenazi Jewish descent)
6. Smoking
7. High cholesterol levels
8. High triglyceride levels
9. High blood pressure
10. Diabetes

Is there a cure/medications for Familial LCAT deficiency?

Yes, there is a medication available to treat Familial LCAT deficiency. The medication is called lomitapide and it helps to reduce the amount of cholesterol in the blood. It is usually taken in combination with a low-fat diet and regular exercise. Additionally, some people may benefit from taking omega-3 fatty acid supplements.