SNP Shot: Genomic Insights

Hepatic lipase deficiency is a condition that disrupts the body's fat (lipid) metabolism. Individuals with this deficiency exhibit elevated levels of triglycerides and cholesterol, specific types of fats, in their bloodstream. They also present with higher than normal levels of high-density lipoproteins (HDLs) and lower than normal levels of low-density lipoproteins (LDLs), which are molecules responsible for transporting triglycerides and cholesterol. In those affected by hepatic lipase deficiency, LDL molecules tend to be unusually large.

Typically, high HDL levels (often referred to as "good cholesterol") and low LDL levels (often referred to as "bad cholesterol") help prevent the buildup of fatty deposits in arteries (atherosclerosis) and reduce the risk of heart disease. However, despite this HDL/LDL imbalance, some individuals with hepatic lipase deficiency still develop atherosclerosis and heart disease around middle age, while others do not. It remains uncertain whether hepatic lipase deficiency increases the risk of atherosclerosis or heart disease compared to the general population. Likewise, the impact of elevated triglycerides and cholesterol on atherosclerosis and heart disease risk in those with hepatic lipase deficiency is not fully understood.

Inheritance:

The inheritance pattern for this condition is autosomal recessive. This means that a person must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, each carrying one copy of the mutated gene, are typically asymptomatic (do not display any signs or symptoms).