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Familial Hypercholesterolaemia (FH)

Hereditary lipid disorder leading to early cardiovascular disease.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Endokrinoloji department. Book Appointment →

What is Familial Hypercholesterolaemia (FH)?

Familial hypercholesterolaemia (FH) is a hereditary lipid disorder caused by mutations in the LDL receptor (LDLR), apolipoprotein B (APOB), PCSK9 or rarely LDLRAP1 genes. Heterozygous form: 1/200-1/250 prevalence; homozygous form: 1/300,000-1/1,000,000 (rare and severe).

Heterozygous FH causes 2-3 fold elevated LDL-C (190-450 mg/dL); without treatment, the lifetime risk of myocardial infarction is approximately 50% in men and 30% in women. Homozygous FH causes very high LDL-C (>500 mg/dL); cardiovascular events develop in childhood/adolescence. Cumulative LDL exposure throughout life is critical.

Diagnostic criteria (Dutch Lipid Clinic Network or Simon Broome): family history (premature CVD <55-65 years), tendon xanthoma, corneal arcus, very high LDL-C and genetic testing. Treatment: high-intensity statin (rosuvastatin/atorvastatin), ezetimibe, PCSK9 inhibitor (evolocumab, alirocumab), inclisiran (siRNA), bempedoic acid; lipoprotein apheresis in homozygous form. Lomitapide and evinacumab are options. Family screening (cascade screening) is critical.

Symptoms

Very high LDL cholesterol (>190 mg/dL)
Tendon xanthoma (Achilles, finger extensors)
Cutaneous xanthoma (knee, hand, gluteal)
Xanthelasma (eyelid)
Corneal arcus (<45 years)
Premature coronary disease
Family history (premature CAD)
Often asymptomatic
Aortic stenosis (in homozygous form)

Risk Factors

Family history (especially first-degree)
LDL-C >190 mg/dL (children >150)
Premature coronary disease (<55 men, <65 women)
Tendon xanthoma
Founder mutation in certain populations (French-Canadian, South African, Dutch)
LDLR/APOB/PCSK9 mutation
Smoking (additional risk)
Diabetes, hypertension

When to See a Doctor?

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

  • Very high LDL-C found incidentally
  • Premature CVD in family history
  • Detection of tendon xanthoma
  • Evaluation in childhood (with family history)
  • Detection of corneal arcus before age 45
  • Resistance to high statin therapy
  • Screening of children of homozygous patients
  • Statin intolerance

Treatment Methods

01
Lipid panel (fasting)
02
Diagnosis with Dutch/Simon Broome criteria
03
Cascade screening of family members
04
Genetic testing (LDLR, APOB, PCSK9)
05
High-intensity statin (rosuvastatin 40 mg, atorvastatin 80 mg)
06
Ezetimibe (combination)
07
PCSK9 inhibitor (evolocumab, alirocumab)
08
Inclisiran (siRNA, twice yearly)
09
Bempedoic acid
10
Lipoprotein apheresis (homozygous, severe heterozygous)
11
Lomitapide, evinacumab (homozygous)
12
Cardiovascular risk reduction (smoking cessation, hypertension, diabetes)
13
Statin therapy from age 8 in children

Which Department to Visit?

You can visit our Endokrinoloji 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.