Quick Guide: Comparing MD CALC’s Three Major Diagnostic Criteria for Familial Hypercholesteremia (FH)

Dutch Criteria

Very tangible. Points are distributed into categories that flow with your HPI. Adds up concretely. More of a checklist than a calculator. Ideal for clinic.

Does the patient have elevated cholesterol, family history of FH, and/or family history of premature cardiac death? If yes, then continue.

Family History

(1 point) First-degree relative with premature coronary and/or vascular disease

(1 point) Male relative <55 years, female relative <60 years

(1 point) First-degree relative with known LDL >95th percentile for age and sex

(1 point) First-degree relative with tendon xanthomata and/or arcus cornealis

(1 point) Children <18 years with known LDL >95th percentile for age and sex

Clinical History

(2 points) Patient with premature coronary artery disease

(1 point) Patient with premature cerebral or peripheral vascular disease

Physical Examination

(6 points) Tendon xanthomata

(4 points) Arcus cornealis at age <45 years

Cholesterol Level

(8 points) LDL-C ≥8.5 (330)

(5 points) LDL-C 6.5 – 8.4 (250 – 329)

(3 points) LDL-C 5.0 – 6.4 (190 – 249)

(1 point) LDL-C 4.0 – 4.9 (155 – 189)

DNA Analysis

(8 points) Functional mutation of LDLR, apoB or PCSK9 gene

32 possible points. Greater than 8 = Definite familial hypercholesteremia. Between 6-8 = Probable familial hypercholesteremia. Between 3-5 = Possible Familial Hypercholesteremia. Less than 3 = Unlikely familial hypercholesteremia.

Simon-Broome Diagnostic Criteria

More of a calculator than a checklist. You need a computer or smartphone for this. Some of the criteria are convoluted and the specifiers make you think twice. Must know which cholesterol values are considered high/moderate/low if you are using this freehand. The official diagnostic criteria uses mmol/L as opposed to mg/dL. Fewer categories of specification compared to Dutch Criteria.

You must enter the patients age (are they older or younger than 16?). Then you must enter their total cholesterol. Then you must enter their LDL cholesterol. After that, you must answer select Yes or No for the following:

+1 points: Total cholesterol > 290 or LDL-C > 190

+1 points: Tendon xanthomas in the patient or tendon xanthomas in a 1^st/2^nd degree relative

+1: DNA-based evidence of an LDL-receptor mutation/defective apo B-100/PCKS9 mutation

+1 points:  Family history of MI before age 50 in a 2^nd degree relative or before age 60 in a 1^st degree relative

+1 points:  Family history of elevated total cholesterol >289.6 mg/dL (7.5 mmol/L) in adult 1st or 2nd degree relative or >258.7 mg/dL (6.7 mmol/L) in a child or sibling <16 years

Definite FH:

Cholesterol >7.5 mmol/L or LDL-cholesterol >4.9 mmol/L in adult

Cholesterol >6.7 mmol/L or LDL-cholesterol >4.0 mmol/L in a child under 16 years of age

PLUS

Tendon xanthomas in patient or a 1st degree relative (parent, sibling, child),

or in a 2nd degree relative (grandparent, uncle, aunt)

OR

DNA based evidence of a functional LDLR, PCSK9 and APOB mutation

Probable FH:

Cholesterol >7.5 mmol/L or LDL-cholesterol >4.9 mmol/L in adult

Cholesterol >6.7 mmol/L or LDL-cholesterol >4.0 mmol/L in a child under 16 years of age

PLUS

Family History of myocardial infarction (MI) before 50 years of age in a 2nd degree relative

or below age 60 in a 1st degree relative

OR

Family history of raised total cholesterol – >7.5 mmol/L in adult 1st or 2nd degree relative

or >6.7 mmol/L in a child or sibling aged <16 years

US (MEDPED) Diagnostic Criteria for Familial Hypercholesterolemia

Simple calculator with three parameters. The easiest of the bunch to enter on a computer. Requires the least amount of information, and yields the weakest results.

Diagnostic Criteria:

Age: <20; 20-29; 30-39; >40

Closest degree relative with confirmed FH diagnosis: 1^st degree; 2^nd degree; 3^rd degree

Total cholesterol: