What is it?

Familial hypercholesterolemia (FH) is a genetic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol and high levels of cholesterol in the blood. There are three known mutated genes that can result in FH- he LDLR, APOB, and PCSK9- which affect how the body regulates and removes cholesterol from the blood. Only one mutated copy of the gene is enough to cause FH. High levels of LFL can result in high risk of atherosclerosis and increases the risk for heart attack and stroke. Most people with FH have a family history of early heart disease or a heart attack. FH complications include a heart attack at an early age, severe heart disease, long term atherosclerosis, a stroke and death. LDL - cholesterols levels in this disorder may be over 190 mg/dL in adults and over 155 mg/dL in children.

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Additional names

This group contains additional names:
- Pure Hypercholesterolemia
- High cholesterol

Signs & symptoms

Familial hypercholesterolemia often has no symptoms, because damage for the cells is done before any symptoms are visible. Some of the advanced symptoms are chest pain with activity, xanthomas (fatty deposits) around muscles and joints, cholesterol deposits around the eyes, corneal arcus (gray-white deposits).

Diagnosis

On physical examination, the doctor may be able to detect some of the symptoms of familial hypercholesterolemia such as bumps or lumps in the knees, knuckles or elbows. Other findings may include painful achilles tendon, yellowish area around the eyes, and a gray-white color in the shape of a half-moon outside the cornea. LDL cholesterol levels in the blood for adults, may be over 190 mg/dL in adults or over 155 mg/dL in children. Total cholesterol will be more than 260 milligrams per deciliter (mg/dL) in children under 16 years old or 290 mg/dL in adults. If FH is suspected- a genetic test can affirm the diagnosis.

Treatment

Treatment for familial hypercholesterolemia involves both lifestyle changes and medications. It is recommended to eat a diet rich with lean proteins, olive oil, low-fat dairy products, fruits, vegetables, nuts. Red meat, pork, butter, full-fat dairy, sweetened drink and alcohol should be avoided. Exercise is highly recommended as well and smoking on the other hand, should be avoided. Today’s guidelines include starting statins as early as 8-10 years old.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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