There are several FH scoring systems. The Simon Broome system (see below) used in the UK, and the MedPed criteria used in the USA, are both very well known. Below is a presentation of the Dutch Lipid Clinic Network criteria, which, in our opinion, is the most sophisticated (Table).
Table: Dutch Lipid Clinic Network diagnostic criteria for FH
| Criteria | Points |
| Family history | |
| i. First-degree relative with CAD, M ≤ 55 years, F ≤ 60 years | 1 |
| ii. First-degree relative with LDL-C above 95th percentile for a given country | 1 |
| iii. First-degree relative with tendinous xanthoma and/or arcus lipoides | 2 |
| iv. Children under 18 years with LDL-C above 95th percentile for a given country | 2 |
| Personal clinical history | |
| i. Premature CAD, M ≤ 55 years, F ≤ 60 years | 2 |
| ii. Premature peripheral or cerebral atherosclerosis, M ≤ 55, F ≤ 60 years | 1 |
| Physical exam | |
| i. tendinous xanthoma | 6 |
| ii. Arcus lipoides in patients under 45 years | 4 |
| Biochemical exam | |
| LDL-C (mmol / L) | |
| > 8.5 | 8 |
| 6.5 – 8.4 | 5 |
| 5.0 – 6.4 | 3 |
| 4.0 – 4.9 | 1 |
| Molecular biology – diagnostic mutation testing | |
| i. Mutations in the genes encoding LDL-R, ApoB or PCSK9 | 8 |
The Dutch criteria are then interpreted as follows: For a definite diagnosis of FH, the subject must have more than 8 points; a probable diagnosis of FH requires 6-8 points; and a possible diagnosis of FH is indicated by 3-5 points. Patients who score 0-2 points most likely do not have FH.
According to the Simon Broome diagnostic criteria for FH:
Definite familial hypercholesterolemia is defined as follows:
a) cholesterol levels > 6.7 in children under 16 years of age and > 7.5 in adults; or LDL-C levels > 4.9 in adults
and
b) tendinous xanthomas in a patient or a first- / second-degree relative
Possible familial hypercholesterolemia is defined as follows:
a) cholesterol levels > 6.7 in children under 16 years of age and > 7.5 in adults; or LDL-C levels > 4.9 in adults
and one of the following criteria:
b) family history of MI prior to 50 years of age in second-degree relatives, or prior to 60 years in first-degree relatives
c) family history of elevated cholesterol > 7.5 in first- / second-degree relatives