Hyperlipoproteinemia Type I, also known as familial chylomicronemia syndrome (FCS), is a rare genetic disorder characterized by the accumulation of chylomicrons in the blood plasma. Chylomicrons are large particles composed of dietary fats (triglycerides), cholesterol, and proteins, which are synthesized and released by the intestine into the bloodstream.
In individuals with Hyperlipoproteinemia Type I, there is a deficiency or malfunction of the enzyme lipoprotein lipase (LPL), which is responsible for breaking down triglycerides within chylomicrons. As a result, chylomicrons cannot be metabolized effectively, leading to their excessive accumulation in the blood. This condition is typically inherited in an autosomal recessive manner, meaning that both copies of the gene responsible for LPL function are abnormal or absent.
Symptoms of Hyperlipoproteinemia Type I may include severe abdominal pain (pancreatitis) due to high levels of circulating triglycerides, eruptive xanthomas (small, yellowish bumps) on the skin, hepatosplenomegaly (enlargement of the liver and spleen), and lipemia retinalis (cream-colored vessels in the retina). Additionally, affected individuals may experience recurrent episodes of abdominal pain after consuming fatty foods.
Treatment for Hyperlipoproteinemia Type I primarily focuses on dietary modifications to reduce fat intake and the consumption of long-chain fatty acids. This often involves a low-fat, low-cholesterol diet or the use of medium-chain triglycerides (MCTs) as an alternative energy source. Medications such as fibrates may also be prescribed to help lower triglyceride levels.
