Appendix diagnostica – Familial hypercholesterolemia diagnostic criteria

Simon Broome system

Definite familial hypercholesterolemia (FH) 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 myocardial infarction 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.

MedPed criteria used in the United States

Dutch Lipid Clinic Network criteria for FH

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.