The Dutch Lipid Clinic Network published criteria for the diagnosis of familial hypercholesterolemia.
Parameters:
(1) family history
(2) clinical history
(3) physical examination
(4) serum total cholesterol concentration
(5) mutation
|
Parameter |
Finding |
Points |
|
family history |
first degree relative with premature coronary and vascular disease |
1 |
|
|
first degree relative with known LDL-C > 95th percentile |
1 |
|
|
first degree relative with tendinous xanthoma or arcus cornealis |
2 |
|
|
children < 18 years old with LDL-C > 95th percentile |
2 |
|
|
none of these |
0 |
|
clinical history |
premature coronary artery disease |
2 |
|
|
premature cerebral or peripheral vascular disease |
1 |
|
|
none of theses |
0 |
|
physical exam |
tendinous xanthomas |
6 |
|
|
arcus cornealis prior to age 45 |
4 |
|
serum cholesterol |
LDL-C >= 330 mg/dL |
8 |
|
|
LDL-C 250 to 329 mg/dL |
5 |
|
|
LDL-C 190 to 249 mg/dL |
3 |
|
|
LDL-C 155 to 189 mg/dL |
1 |
|
|
LDL-C < 155 mg/dL |
0 |
|
mutation |
in LDLR, apo B or PCSK9 gene |
8 |
|
|
none of these |
0 |
where:
• Premature vascular disease: onset prior to 55 years in males or 60 years on females.
• The scoring assumes that only 1 item is counted in family history, clinical history and physical exam.
• LDLR = low-density lipoprotein receptor gene.
total score =
= SUM(points for all 5 mutations)
Interpretation:
• minimum score: 0
• maximum score: 26
• The higher the score the more likely the diagnosis of familial hypercholesteroleia.
|
Score |
Famial Hypercholesterolemia |
|
0 to 2 |
unlikely |
|
3 to 5 |
possible |
|
6 to 8 |
probable |
|
>= 9 |
definite |
Specialty: Endocrinology
