What Is Familial Hypertriglyceridemia?

Familial hypertriglyceridemia is a genetic condition characterized by high levels of triglycerides in the blood. It is caused by mutations in the genes that encode for proteins responsible for the regulation of triglyceride metabolism. These mutations lead to an overproduction of triglycerides and a decreased clearance from the bloodstream, resulting in accumulation and hypertriglyceridemia.

Familial hypertriglyceridemia can be inherited in an autosomal dominant or autosomal recessive pattern. There are several types of familial hypertriglyceridemia, each associated with mutations in specific genes. Some of the common genetic defects include mutations in the genes encoding apolipoprotein C-II (APOC2), lipoprotein lipase (LPL), and hepatic lipase (LIPC).

Individuals with familial hypertriglyceridemia may experience symptoms such as abdominal pain, nausea, and pancreatitis due to the excessive buildup of triglycerides in their blood. They are also at an increased risk of developing cardiovascular diseases such as coronary artery disease and atherosclerosis, as high levels of triglycerides can contribute to the hardening and narrowing of the arteries.

Diagnosis of familial hypertriglyceridemia involves blood tests to measure triglyceride levels and genetic testing to identify specific mutations associated with the condition. Management of familial hypertriglyceridemia typically includes dietary modifications, regular exercise, weight loss, and medications to lower triglyceride levels. These interventions aim to reduce the risk of complications and promote overall cardiovascular health.