1 in 313: Familial Hypercholesterolemia's Global Impact and Early Intervention
Familial hypercholesterolemia (FH), a common inherited form of high cholesterol, affects 1 in 313 people worldwide. This genetic disorder, more severe than non-genetic hypercholesterolemia, increases the risk of early heart disease and stroke. Early diagnosis and treatment can significantly improve life expectancy.
FH is caused by inheriting one or more of three known genes located on different chromosomes. It leads to high levels of LDL and total cholesterol, promoting heart health at a young age. Diagnosis involves a physical exam, blood tests for cholesterol levels, family history, and sometimes genetic tests. Those with elevated LDL cholesterol and a higher risk for early cardiovascular diseases, often detected through cascade screening in affected families, are part of the risk group.
Treatment combines lifestyle changes such as diet, exercise, and smoking cessation with medication like statins, bile acid-sequestering resins, ezetimibe, nicotinic acid, and fibrates. Early intervention is crucial as complications can include heart attack, severe heart disease, long-term atherosclerosis, stroke, and death due to heart disease. Genetic counseling before conception can help prevent FH in future children.
FH is more prevalent in certain ethnic or racial groups, including those of Afrikaner, Ashkenazi Jewish, Finnish, French Canadian, or Lebanese descent. With early diagnosis and effective treatment, individuals with FH can lead a more typical heart-healthy life. If you have a family history of high cholesterol or early heart disease, consult a healthcare provider for proper evaluation and care.
