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)
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