What is Familial Hypercholesterolemia?
Familial hypercholesterolemia (FH) is a genetic disorder characterized by exceptionally high levels of low-density lipoprotein cholesterol (LDL-C) in the blood. This condition is caused by mutations in the genes responsible for the regulation of cholesterol metabolism, including the LDL receptor gene.
Pathophysiology
Individuals with FH have a decreased ability to remove LDL-C from their bloodstream, leading to an accumulation of cholesterol. This condition significantly increases the risk of early-onset coronary artery disease and other cardiovascular complications.
Screening and Diagnosis
Screening for FH involves regular cholesterol testing, which measures total cholesterol, LDL-C, and sometimes triglycerides. Early detection is crucial, as treatment can greatly reduce the risk of heart disease. Diagnosis is typically confirmed through clinical criteria and genetic testing.
Treatment and Management
Management of FH generally includes lifestyle changes, such as diet and exercise, along with medications like statins to lower cholesterol levels. In more severe cases, additional treatments may be necessary, including LDL apheresis or even genetic therapies.
Conclusion
Familial hypercholesterolemia is a serious concern that requires proactive screening and management. Individuals with a family history of high cholesterol or early heart disease should discuss testing options with their healthcare provider to ensure timely intervention.