About hyperchylomicronemia, familial

What is hyperchylomicronemia, familial?

Familial lipoprotein lipase (LPL) deficiency is a rare genetic metabolic disorder characterized by a deficiency of the enzyme lipoprotein lipase. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats and results in massive accumulation of fatty droplets called chylomicrons in the circulation (chylomicronemia) and consequently also an increase of the plasma concentration of fatty substances called triglycerides. Affected individuals often experience episodes of abdominal pain, acute recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as eruptive xanthomas. Familial LPL deficiency is caused by mutations in the lipoprotein lipase (LPL) gene and is inherited as an autosomal recessive trait. Recently, mutations in other genes besides LPL were found to cause a clinical picture similar to LPL deficiency.

Chylomicronemia syndrome is a general term for the symptoms that develop due to the accumulation of chylomicrons in the plasma. There are many causes of chylomicronemia syndrome. The term familial chylomicronemia is sometimes used synonymously with familial lipoprotein lipase deficiency. However, there are different causes of familial chylomicronemia. In the past, familial lipoprotein lipase deficiency has also been called hyperlipoproteinemia type I. Familial LPL deficiency was first described in the medical literature in 1932 by Drs. Burger and Grutz.

What are the symptoms for hyperchylomicronemia, familial?

Symptoms may start in infancy and include:

  • Abdominal pain due to pancreatitis (inflammation of the pancreas).
  • Symptoms of nerve damage, such as loss of feeling in the feet or legs, and memory loss.
  • Yellow deposits of fatty material in the skin called xanthomas. These growths may appear on the back, buttocks, soles of the feet, or knees and elbows.

What are the treatments for hyperchylomicronemia, familial?

A fat-free, alcohol-free diet is required. You may need to stop taking certain medicines that can make symptoms worse. Do not stop taking any medicine without first talking to your health care provider. Conditions such as dehydration and diabetes can make symptoms worse. If diagnosed, these conditions need to be treated and controlled.

What are the risk factors for hyperchylomicronemia, familial?

Hyperchylomicronemia, familial, is a rare genetic disorder that causes people to have high levels of chylomicrons in their blood. Chylomicrons are fat molecules that are produced when you digest food. They're supposed to be broken down and used for energy, but people with hyperchylomicronemia can't break them down properly.

1. People with hyperchylomicronemia can't digest fat as well as healthy people do—that's why they have high levels of chylomicrons in their blood.
2. The condition may cause symptoms like diarrhea, abdominal pain, or nausea. If left untreated, it can also lead to serious health problems like heart disease and liver disease.
3. In some cases of Hyperchylomicronemia, an enzyme deficiency called lipoprotein lipase deficiency may also be present.
4. This deficiency causes fatty acids to build up in the blood instead of being broken down by enzymes into smaller molecules that can be used by cells for energy production or storage as fat tissue.

The symptoms of hyperchylomicronemia, familial include:

1. High levels of chylomicrons (lipoprotein particles that contain triglycerides) in the blood
2. Jaundice (yellowing of skin and eyes)
3. Diarrhea
4. Fatty stools or oily stools

High levels of chylomicrons (lipoprotein particles that contain triglycerides) in the blood,Jaundice (yellowing of skin and eyes),Diarrhea,Fatty stools or oily stools
Type 1 Diabetes,Low LDL (low-density lipoprotein) levels,High triglyceride levels,Elevated apolipoprotein B-48 levels

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