Diagnostic Criteria for FH
The FH 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.


References:
Abbreviations: FH (familial hypercholesterolemia), PCSK9 (proprotein convertase subtilisin/kexin 9), LDL-C (low density lipoprotein cholesterol), ASCVD (atherosclerotic cardiovascular disease)
*Hypothyroidism, nephrotic syndrome, extreme dietary patterns.
**If patient has 30% or more reduction in LDL-C.
[1]Gidding, SS, Champagne MA, de Ferranti SD, et al. “The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.” Circulation. 2015;132:2167-2192.
[2]Stone et al. 2013 ACC/AHA Blood Cholesterol Guideline. JACC Vol. 63, No.25, 2014. July 1, 2014:2889-934. Table 5, p2902.
[3]Stone et al. 2013 ACC/AHA Blood Cholesterol Guideline. JACC Vol. 63, No.25, 2014. July 1, 2014:2889-934. Table 10, p2911.
[4]Banach, M et al. Arch Med Sci. 2015Mar 16; 11(1): 1–23.
[5]. Lloyd-Jones DM, Morris PB, Ballantyne CM et al.2017 Focused Update of the 2016 ACC Expert Consensus Decision Pathway on the Role of Non-Statin Therapies for LDL-Cholesterol Lowering in the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways. J Am Coll Cardiol. 2017 Oct 3;70(14):1785-1822.Figure 2C.