Familial chylomicronemia syndrome is a metabolic disorder that causes deficiencies in enzymes, which help break down certain fats for energy.
Symptoms typically present during childhood and include abdominal pain, pancreatitis, eruptive xanthomas (lesions on the skin containing cholesterols and fats) and hepatosplenomegaly (swelling of the liver and spleen).
This condition is caused by pathogenic (disease-causing) variants in the LPL gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background. Carriers typically do not experience any symptoms.
Another name for this condition is lipoprotein lipase deficiency.
References:
National Organization for Rare Disorders (NORD)
Revised August 2022
