Table 2.
Criteria | Points | |
---|---|---|
1. Family history | ||
A first degree relative with known: | ||
a) Premature* coronary and vascular disease | 1 | |
b) Plasma LDL-C concentration >95th percentile for age and sex | ||
i) In an adult relative | 1 | |
ii) In a relative <18 years of age | 2 | |
c) Tendon xanthomata or arcus cornealis | 2 | |
2. Clinical history | ||
Patient has premature*: | ||
a) Coronary artery disease | 2 | |
b) Cerebral or peripheral vascular disease | 1 | |
3. Physical examination of the patient | ||
a) Tendon xanthomata | 6 | |
b) Arcus cornealis in a patient <45 years of age | 4 | |
4. LDL-C levels in patient’s blood (mmol/L) | ||
a)≥8.5 | 8 | |
b) 6.5–8.4 | 5 | |
c) 5.0–6.4 | 3 | |
d) 4.0–4.9 | 1 | |
5. DNA analysis showing functional mutation in the LDLR or other FH-related gene | 8 | |
Interpretation | Diagnosis | Total points |
Definite FH | >8 | |
Probable FH | 6–8 | |
Possible FH | 3–5 |
if male, <55 years; if female, <60 years.
Reprinted with permission from the World Health Organization.34