Primary Hypercholesterolemia

Primary Hypercholesterolemia

Primary Hypercholesterolemia is an inherited form of high cholesterol. It is caused by problems with the LDL receptor gene. People with this disorder have higher than normal levels of cholesterol in their blood. This type of high cholesterol is more dangerous than the kind that can be caused by diet and lifestyle, as it can lead to early heart disease, heart attack, and stroke.

Signs and Symptoms

Most people with primary hypercholesterolemia don't show any signs or symptoms. It is often discovered when someone has a routine blood test, or if they have a family history of heart disease or high cholesterol. In some cases, people may experience symptoms such as chest pain or shortness of breath.

Diagnosis and Treatment

To diagnose primary hypercholesterolemia, a fasting lipid profile should be done to measure total cholesterol, LDL cholesterol, HDL cholesterol, and triglycerides. If the results show an abnormal level of LDL, a doctor may order a genetic test to confirm the diagnosis.

Treatment of primary hypercholesterolemia involves lifestyle changes, such as eating a healthy diet, exercising regularly, and quitting smoking, as well as medications to lower cholesterol and prevent complications from heart disease.


Primary hypercholesterolemia can lead to serious complications if left untreated, such as heart attack, stroke,, and hardening of the arteries (atherosclerosis). It can also increase the risk of kidney failure, blindness, and peripheral artery disease.


The best way to prevent primary hypercholesterolemia is to get tested regularly. If you have a family history of heart disease or high cholesterol, talk to your doctor about getting screened. It is also important to follow a healthy lifestyle, which includes eating a diet low in saturated fats and cholesterol, exercising regularly, not smoking, and managing any other medical conditions you may have.