chylomicronemia是什么意思，chylomicronemia翻译

chylomicronemia是什么意思，chylomicronemia翻译

Chylomicronemia, also known as chylomicronemia syndrome, is a rare genetic disorder characterized by the accumulation of chylomicrons in the blood. Chylomicrons are large lipoprotein particles that transport dietary triglycerides from the intestines to various tissues in the body for energy production or storage. In individuals with chylomicronemia, there is a mutation in the LPL (lipoprotein lipase) gene, which leads to a deficiency or absence of this important enzyme. As a result, chylomicrons are not properly broken down, leading to their accumulation in the bloodstream.

The symptoms of chylomicronemia can vary from person to person, but common manifestations include severe hypertriglyceridemia (elevated levels of triglycerides in the blood), pancreatitis (inflammation of the pancreas), recurrent episodes of abdominal pain, vomiting, and diarrhea. In some cases, individuals with chylomicronemia may also experience neurological symptoms, such as numbness and tingling in the extremities, due to the deposition of chylomicrons in the peripheral nerves.

The diagnosis of chylomicronemia is based on a combination of clinical symptoms, laboratory findings, and genetic testing. Laboratory tests typically reveal very high levels of triglycerides, typically above 1000 mg/dL. Genetic testing can confirm the presence of mutations in the LPL gene, which is responsible for chylomicronemia.

Treatment for chylomicronemia focuses on reducing triglyceride levels and managing symptoms. This often involves a strict low