Familial Chylomicronemia
What is Familial Chylomicronemia?
Familial Chylomicronemia (FC), also known as familial combined hyperlipidemia ortype IV hyperlipoproteinemia, is a rare but potentially serious metabolic disorder characterized by high levels (hyperlipidemia) of fat (lipids) in the blood (plasma). Fitness people with this condition, various fats (lipids) accumulate in particles called chylomicrons, forming fatty deposits in tissues throughout the body. This can potentially damage organs and vessels and cause serious medical issues such as heart attack and stroke, pancreatitis, and high cholesterol levels.
What are the causes of Familial Chylomicronemia?
Familial Chylomicronemia is caused by mutations in several different genes. These genes typically involve the proteins that produce apolipoproteins, which are markers found on the surface of certain lipoproteins in the blood. Mutations in these genes can result in an impaired ability to absorb, transport, and regulate lipids properly.
What are the symptoms of Familial Chylomicronemia?
The symptoms of Familial Chylomicronemia vary from person to person, but can generally include:
- High cholesterol levels
- High levels of triglycerides in the blood (hypertriglyceridemia)
- Frequent abdominal pain
- Gallstones
- Reduced vision and potential blindness
- Fatigue
- Yellowing of the skin or eyes (jaundice)
- Pancreatitis
- Frequent infections
What are the treatment options for Familial Chylomicronemia?
The primary goals of treatment for Familial Chylomicronemia are to reduce the risk of serious medical complications, such as heart attack and stroke, and to maintain and improve quality of life. Treatment will depend on individual circumstances and may include dietary and lifestyle changes, cholesterol-lowering medications, and insulin therapy.