Diagnostic Criteria for FH
the Family Heart Foundation endorses “The Agenda for Familial Hypercholesterolemia: A Scientific Statement from the AHA”[1]clinical criteria for FH diagnosis.
FH Diagnosis: ICD-10 E78.01
Heterozygous FH: LDL ≥190 at baseline, not due to secondary causes*, and a 1st degree relative similarly affected or with premature Coronary Artery Disease OR a positive genetic test result. Do not require genetic testing.
Homozygous FH: Untreated LDL-C ≥400 mg/dL and 1 or both parents having clinically diagnosed familial hypercholesterolemia, positive genetic testing for an LDL-C-raising (LDL receptor, apoB, or PCSK9) gene defect, or autosomal recessive FH. Do not require genetic testing. If LDL-C ≥560 mg/dL or LDL-C ≥400 mg/dL with aortic valve disease or xanthomata at < 20 years of age, homozygous FH highly likely.
Statin Use
High intensity statin (atorvastatin 40-80mg or rosuvastatin 20-40mg[2]) or maximally tolerated statin or statin intolerant.
Statin Trial
4 weeks[3].
Statin Intolerance
Tried 2 statins (one high intensity, one at lowest recommended dose)[4].
Ezetimibe Trial
Trial optional. 4 weeks.
LDL thresholds
Treated LDL > 70 with or without ASCVD[5].
Documentation
Allow for physician attestation, particularly for pre-treatment LDL-C.
Re-authorization
Initial re-authorization after 3 months**, then re-authorization for 3 years.