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Familial Hyperlipidemia: Stopping premature deaths

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Familial Hyperlipidemia (FH) affects ~1 in 250 people and carries a 10-20 times higher risk of premature CVD1.  Missed frequently & standard risk calculators underestimate risk.


Suspect FH with LDL‑C ≥5.0 mmol/L (≥4.0 on treatment), total cholesterol ≥7.5 mmol/L, premature CVD in the patient or family (men < 55; women < 60), arcus senilis, tendon xanthoma, xanthelasma. 


Rule out secondary causes: steroids, antipsychotics, immunosuppressants, antiretrovirals. If suspected, check the criteria for lipid testing; if positive, test family members (cascade testing)2.


Treat FH with statins to lower LDL-C to 1.4 mmol/L; add ezetimibe if needed. The homozygous form (HoFH) is rarer and more severe, often causing childhood CVD, so start statins early.Screening relatives should begin from age 5-10 years, or earlier if there is a family history of early MI and known gene positive.References:



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