Your bloodstream always carries the fatty substance, cholesterol, attached to proteins. The combination of cholesterol and proteins is called a lipoprotein. Many medical conditions and lifestyle factors can cause high cholesterol in the bloodstream. However, in some of these cases, high levels may be genetically driven.
Hypercholesterolemia refers to a genetic condition of having extremely high cholesterol levels in the bloodstream. It occurs because of a faulty fat transporter lipoprotein, LDL. Said another way, mutations in genes responsible for LDL function cause hypercholesterolemia.
Excess cholesterol in the bloodstream can cause yellowish cholesterol deposits on the skin and inside tendons. However, the major problem is that the cholesterol clogs up arteries, making it harder for blood to flow to the heart. This can lead to heart problems, like heart attacks and strokes. Understandably, it is important to diagnose and manage hypercholesterolemia effectively to prevent heart disease.
Symptoms of Hypercholesterolemia:
- Hypercholesterolemia: Increased concentration of cholesterol in the blood.
- Increased LDL cholesterol concentration: Elevated concentration of low-density lipoprotein cholesterol in the blood.
- Hypertriglyceridemia: Abnormal increase in the level of triglycerides in the blood.
- Xanthelasma: Cholesterol deposits in skin around the eyes and eyelids.
- Tendon xanthomatosis: Cholesterol deposits in extensor tendons, typically over knuckles, Achilles tendon, knee, and elbows.
- Corneal arcus: A hazy, grayish-white ring (about 2 mm in width) located close to but separated from the limbus of the cornea (the corneoscleral junction).
- Coronary artery atherosclerosis: Reduction of the diameter of medium to large-sized arteries that supply blood to the heart. The accumulation of plaques in the walls of the coronary arteries decreases or blockages blood flow. This increases the risk of myocardial ischemia.
Is Hypercholesterolemia genetic?
Yes, hypercholesterolemia is a genetic disease caused by mutations in genes responsible for LDL function. These genes are GHR, PPP1R17, LDLR, APOA2, EPHX2, APOB, PCSK9, and LDLRAP1.
Inheriting one of these risk genes can cause symptoms in the fourth or fifth decade of life. However, inheriting two copies can lead to symptoms at a much earlier age. In a study from 1998, over 50% of young adults with hypercholesterolemia caused by inheriting two risk genes already had thicker artery walls by their mid-twenties!
Many studies consistently show that managing cholesterol levels through diet and treatments significantly reduces the risk of coronary heart disease for people with familial hypercholesterolemia. Therefore, early testing and intervention are crucial, especially for those at high risk.
These are the products we suggest:
We recommend this at-home genetic test that looks at the four gene variants linked to hypercholesterolemia: APOB, LDLR, LDLRAP1, PCSK9 – plus another 79 genes linked to heart health. The key benefits are:
- Just a saliva sample needed.
- Evaluates your overall heart health.
- Includes free genetic counselling plus a personalised prevention plan.
It’s important to remember:
- Healthy habits always reduce cholesterol.
- Other medical conditions can cause unhealthy cholesterol levels, not just hypercholesterolemia.
- Genetic testing is useful for those with a family history of high cholesterol or heart disease.
