Hyperchylomicronemia demonstrates an autosomal recessive inheritance pattern. Recessive inheritance means both genes in a pair must be abnormal to cause disease. People with only one defective gene in the pair are called carriers. These people are most often not affected with the condition. However, they can pass the abnormal gene to their children.
Lipoprotein lipase is also known as capillary lipoprotein lipase (CPL). Lipoprotein lipase breaks down fats. When it is deficient, it causes triglycerides to increase.
Apolipoprotein C-II is secreted in plasma where it is a component of very low density lipoproteins and chylomicrons. This protein activates the enzyme lipoprotein lipase in capillaries, which hydrolyzes triglycerides. When apolipoprotein C-II is altered, triglycerides accumulate.
Chylomicrons are found in the blood and lymphatic fluid where they serve to transport fat from its port of entry in the intestine to the liver and to adipose tissue. Lipoprotein lipase and apolipoprotein C-II are involved in the break down of fatty acids, when these are deficient or altered, chylomicrons are accumulated and levels increase.
Lipoprotein lipase and apolipoprotein C-II are involved in the break down of fatty acids, when these are deficient or altered, cholesterol is accumulated and levels increase.
Lipoprotein lipase and apolipoprotein C-II are involved in the break down of fatty acids, when these are deficient or altered, triglycerides are accumulated and levels increase.
The accumulation of chylomicrons can reduce blood flow through the pancreas, leading to acute pancreatitis.
Patients with hyperchylomicronemia may also have an enlarged liver and spleen (hepatosplenomegaly). The higher the levels of fat in the body, the larger the liver and spleen become. As fat levels rise, certain white blood cells called macrophages take in excess fat in an attempt to rid fat from the bloodstream. After taking in fat, the macrophages travel to the liver and spleen, where the fatty cells accumulate.
Unlike other familial dyslipidemias, patients with hyperchylomicronemia do not have an increased risk for atherosclerosis.
Eruptive/pruritic xanthomas are benign skin lesions that can be described as red-yellow dermal papules during examination that are caused by localized deposition of lipids in the dermis.
When blood is drawn the plasma may have a milky appearance due to excessive lipids in blood.
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