hüperkolesteroleemia

hüperkolesteroleemia, also known in English as hypercholesterolemia, is a metabolic disorder characterized by abnormally high concentrations of low‑density lipoprotein (LDL) cholesterol in the bloodstream. This condition increases the risk of atherosclerosis and cardiovascular disease.

The disorder can be primary (familial) or secondary. Familial hypercholesterolemia results from inherited genetic mutations that impair LDL receptor function, hepatic LDL‑binding, or apolipoprotein B synthesis. Secondary forms arise from lifestyle factors such as a high‑fat diet, obesity, sedentary behavior, uncontrolled diabetes, hypothyroidism, chronic kidney disease, or certain medications. Elevated LDL levels are frequently accompanied by increased very‑low‑density lipoprotein (VLDL) and triglycerides, while high‑density lipoprotein (HDL) may be low.

Clinical presentation often includes a lack of overt symptoms, but physical signs such as xanthomas, arcus corneae, and tendon xanthomas can appear, particularly in severe familial cases. Most individuals develop early coronary artery disease, myocardial infarction, or stroke if untreated.

Diagnosis relies on fasting lipid profile measurements: cholesterol total >240 mg/dL, LDL >160 mg/dL, triglycerides >200 mg/dL, and HDL <40 mg/dL for men or <50 mg/dL for women. Genetic testing confirms familial forms. Imaging studies such as carotid intima‑media thickness or coronary artery calcium scoring may evaluate atherosclerotic burden.

Treatment focuses on lifestyle modifications—low‑cholesterol, low‑saturated fat, high‑fiber diet, regular exercise, weight control, and smoking cessation. Pharmacologic therapy includes statins, bile acid sequestrants, ezetimibe, PCSK9 inhibitors, and in severe cases, LDL apheresis. The goal is to reduce LDL cholesterol below individualized target levels (often <100 mg/dL for high‑risk patients). Regular monitoring of lipid panels and liver function tests is recommended to assess efficacy and safety.