Table 2.
U.S. MEDPED, Simon Broome, and Dutch Lipid Clinic Network Criteria for the Diagnosis of FH
| U.S. MEDPED Criteria7 | ||||
| Age (y) | First-Degree Relative With FH | Second-Degree Relative With FH | Third-Degree Relative With FH | General Population |
| <20 | 220 mg/dL | 230 mg/dL | 240 mg/dL | 270 mg/dL |
| 20-29 | 240 mg/dL | 250 mg/dL | 260 mg/dL | 290 mg/dL |
| 30-39 | 270 mg/dL | 280 mg/dL | 290 mg/dL | 340 mg/dL |
| ≥40 | 290 mg/dL | 300 mg/dL | 310 mg/dL | 360 mg/dL |
| Simon Broome Criteria8 | ||||
| Criteria | Possibility | |||
| In adults: TC >7.5 mmol/L (290.0 mg/dL) (or when available, LDL-C >4.9 mmol/L [189.5 mg/dL]) In pediatric patients: TC >6.7 mmol/L (259.1 mg/dL), or LDL-C >4.0 mmol/L (154.7 mg/dL), AND |
Definite | |||
| Tendon xanthoma in the patient or first-/second-degree relative, OR | ||||
| Presence of LDLR, APOB, or PCSK9 gene mutation | ||||
| In adults: TC >7.5 mmol/L (290.0 mg/dL) (or when available, LDL-C >4.9 mmol/L [189.5 mg/dL]) In pediatric patients: TC >6.7 mmol/L (259.1 mg/dL), or LDL-C >4.0 mmol/L (154.7 mg/dL), AND |
Possible | |||
| Family history of MI <50 years old in second-degree relative or <60 years old in first-degree relative OR alternatively | ||||
| Family history of TC >7.5 mmol/L (290.0 mg/dL) in a first- or second-degree relative | ||||
| Dutch Lipid Clinic Network Criteria9 | ||||
| Category | Score | |||
| Family history | ||||
| Premature CVD (men <55 y, women <60 y) in first-degree relative, OR | 1 | |||
| LDL >95th percentile in first-degree relative AND/OR | 1 | |||
| Tendon xanthoma and/or arcus cornealis in first-degree relative, OR | 2 | |||
| LDL >95th percentile in children <18 years old | 2 | |||
| Personal history | ||||
| Premature CAD in patient (men <55 y, women <60 y) | 2 | |||
| Premature cerebral or peripheral vascular disease (men <55 y, women <60 y) | 1 | |||
| Clinical examination | ||||
| Tendon xanthomas, OR | 6 | |||
| Corneal arcus younger than 45 y | 4 | |||
| LDL-C | ||||
| >330 mg/dL (8.5 mmol/L) | 8 | |||
| 250-329 mg/dL (6.5-8.5 mmol/L) | 5 | |||
| 190-249 mg/dL (4.9-6.4 mmol/L) | 3 | |||
| 155-189 mg/dL (4.0-4.9 mmol/L) | 1 | |||
| Presence of functional LDL receptor mutation (in LDLR, APOB, or PCSK9 gene) | 8 | |||
| Diagnosis based on overall score | ||||
| Definite | >8 | |||
| Probable | 6-8 | |||
| Possible | 3-5 | |||
| Unlikely | <3 | |||
CAD = coronary artery disease; CVD = cardiovascular disease; FH = familial hypercholesterolemia; LDL = low-density lipoprotein; LDL-C = low-density lipoprotein cholesterol; MEDPED = Make Early Diagnosis to Prevent Early Death; MI = myocardial infarction; TC = total cholesterol.