What is the expected inheritance pattern of Familial lipoprotein lipase deficiency?

Familial lipoprotein lipase deficiency is caused by mutations in the LPL gene, which is responsible for encoding the enzyme lipoprotein lipase. This enzyme plays a critical role in the hydrolysis of triglycerides in lipoproteins, leading to the release of free fatty acids that can be taken up by tissues for energy or storage.

In this condition, the lack of functional lipoprotein lipase leads to elevated levels of triglycerides in the blood, resulting in symptoms such as pancreatitis, abdominal pain, and eruptive xanthomas. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to be affected by the disorder.

Parents of an affected individual typically carry one copy of the mutated gene (they are carriers) but do not usually express the disease themselves. This inheritance pattern is characteristic of many metabolic disorders due to enzyme deficiencies, reinforcing the autosomal recessive nature of familial lipoprotein lipase deficiency.