What LDL-C level is typical in heterozygous FH?

Heterozygous FH typically presents with LDL-C 190-400 mg/dL; homozygous FH has LDL-C >400 mg/dL (often 700-1000 mg/dL); tendon xanthomas and premature CVD are characteristic.

What is the Dutch Lipid Clinic Network score for FH?

DLCN scores family history, clinical history, LDL-C level, physical examination (tendon xanthomas, arcus), and genetic testing; ≥8 = definite FH, 6-7 = probable, 3-5 = possible.

What LDL-C target is recommended in homozygous FH?

LDL-C <100 mg/dL (or 50% reduction) is ideal but rarely achieved in HoFH without LDL apheresis; maximum tolerated PCSK9 inhibitor + statin + ezetimibe is standard; lomitapide and inclisiran are options.

When should LDL apheresis be used in FH?

LDL apheresis every 1-2 weeks is considered in HoFH and in HeFH with LDL >200 mg/dL despite maximum medical therapy and progressive coronary disease.

At what age should FH children start treatment?

Statins from age 8-10 years with LDL-C >190 mg/dL; age 6-8 years if extreme LDL or HoFH; dietary intervention from diagnosis at any age; target LDL-C <130 mg/dL in children with FH.

Familial Hypercholesterolemia Cardiovascular Risk Assessment

Estimates CVD risk in familial hypercholesterolemia using the SAFEHEART score (FH-specific), Dutch Lipid Clinic Network score for FH diagnosis, and LDL reduction targets with PCSK9 inhibitor dosing.

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Frequently Asked Questions

What LDL-C level is typical in heterozygous FH?

What is the Dutch Lipid Clinic Network score for FH?

What LDL-C target is recommended in homozygous FH?

When should LDL apheresis be used in FH?

At what age should FH children start treatment?