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Familial Hypercholesterolemia

A genetic disorder of the LDL receptor pathway causing markedly elevated LDL cholesterol.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

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What is Familial Hypercholesterolemia?

Familial hypercholesterolemia (FH) is an autosomal dominant dyslipidemia caused by mutations in genes such as the LDL receptor, apolipoprotein B or PCSK9, resulting in markedly elevated LDL cholesterol from birth. The heterozygous form occurs in about 1 in 250, while the homozygous form is rare.

Untreated, homozygous patients develop coronary artery disease and myocardial infarction in childhood, while heterozygous patients typically develop these between 30 and 50 years of age. Clinical features include xanthomas, xanthelasma and corneal arcus.

Diagnosis is based on the Dutch Lipid Clinic Network or Simon Broome criteria. Treatment includes lifestyle modification, high-intensity statins, ezetimibe, PCSK9 inhibitors and LDL apheresis in homozygous patients.

Symptoms

Xanthomas (tendons, elbows, knees)
Xanthelasma (eyelids)
Corneal arcus at a young age
Early-onset chest pain
Family history of early myocardial infarction
Usually asymptomatic high LDL
Aortic stenosis in homozygous cases

Risk Factors

First-degree relative with FH or early CAD
LDL >190 mg/dL in adults
LDL >160 mg/dL in children
Xanthomas in the family
Family history of premature cardiovascular death
Smoking and metabolic syndrome
Hypertension and diabetes

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When high LDL cholesterol is identified
  • Early heart disease in family members
  • Xanthoma or corneal arcus
  • High cholesterol in a child
  • Dyslipidemia refractory to standard treatment

Treatment Methods

01
High-intensity statin (rosuvastatin/atorvastatin)
02
Add-on ezetimibe
03
PCSK9 inhibitors (evolocumab/alirocumab)
04
Bempedoic acid and inclisiran
05
LDL apheresis in homozygous cases
06
Family screening and genetic counseling

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.