Table 2.3.

Diagnostic criteria for familial hypercholesterolemia (based on the Dutch Lipid Clinic Network criteria - Dutch MEDPED)

Parameter	Score
Family history     First degree relative with premature vascular/coronary disease (men < 55 years, women < 60 years) OR     First or second degree relative with TC > 290 mg/dL*     First degree relative with tendon xanthoma and/or corneal arcus OR     First degree relative < 16 years with TC > 260 mg/dL*	1   2
Clinical history     Patient with premature CAD (men < 55 years, women < 60 years)     Patient with premature cerebral or peripheral arterial disease (men < 55 years, women < 60 years)	2 1
Physical examination     Tendon xanthoma     Corneal arcus < 45 years	6 4
LDL-c Levels (mg/dL)     ≥ 330 mg/dL     250 - 329 mg/dL     190 - 249 mg/dL     155 - 189 mg/dL	8 5 3 1
DNA analysis     Functional mutation in the LDL receptor, the ApoB100, or the PCSK9* gene	8
FH diagnosis     Confirmed if     Potential if     Possible if     Not FH	> 8 points 6 - 8 points 3 - 5 points < 3 points

CAD: coronary artery disease; DNA: deoxyribonucleic acid; FH: familial hypercholesterolemia; LDL-c: low-density lipoprotein-cholesterol; TC: total cholesterol.

^*Modified from the Dutch MEDPED, adopting a criterion from the Simon Broome Register Group proposal. Adapted from the Updated Guideline for Dyslipidemia and Atherosclerosis Prevention (5) and the I Brazilian Guidelines for Familial Hypercholesterolemia.¹⁹