Table 3 Criteria for the Clinical Diagnosis of Familial Hypercholesterolemia

Total Cholesterol (LDL-C) levels in mg/dL

Comments

Age

1 ^st degree

relative

2 ^nd degree

relative

3 ^rd degree

relative

General

Population

<18

220 (155)

230 (165)

240 (170)

270 (200)

20

240 (170)

250 (180)

260 (185)

290 (220)

98% specificity

30

270 (190)

280 (200)

290 (210)

340 (240)

87% sensitivity

40 +

290 (205)

300 (215)

310 (225)

360 (260)

Total Cholesterol

(LDL-C) in mg/dL

290 (190) in

adults, or

260 (155) in

pediatrics

AND

DNA mutation

Definite FH

Tendon xanthomas in the patient or in a 1^st or 2^nd degree relative

Probable FH

Family history of MI at age <50 in 2^nd degree relative or at age <60 in 1^st degree relative

OR

Family history of total cholesterol >290 mg/dL in 1^st or 2^nd degree relative

Possible FH

1 point

1^st degree relative with premature cardiovascular disease or LDL-C >95^th

percentile, or

Personal history of premature peripheral or cerebrovascular disease, or

LDL-C between 155 and 189 mg/dL

Definite FH ( = or > 8 points)

2 points

1^st degree relative with tendinous xanthoma or corneal arcus, or

1^st degree relative child (<18 yrs) with LDL-C > 95^th percentile, or

Personal history of coronary artery disease

3 points

LDL-C between 190 and 249 mg/dL

Probable FH (6-7 points)

4 points

Presence of corneal arcus in patient less than 45 yrs old

5 points

LDL-C between 250 and 329 mg/dL

Possible FH (3-5 points)

6 points

Presence of a tendon xanthoma

8 points

LDL-C above 330 mg/dL, or

Functional mutation in the LDLR gene