Simon_broome_diagnostic_criteria_for_familial_hypercholesterolemia_FH v.1

The Simon Broome diagnostic criteria is an assessment criteria used to predict the risk of familial hypercholesterolemia.

Therese Lindberg

therese.lindberg@cambio.se

@ Cambio CDS

Use to assess the Simon Broome diagnostic criteria in order to diagnose familial hypercholesterolemia (FH).

Use to assess the Simon Broome diagnostic criteria in order to diagnose familial hypercholesterolemia (FH). Simon Broome Diagnosis Criteria for Familial Hypercholesterolemia: Diagnosis: Criteria: 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 (grand parent, 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

Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ. 1991 Oct 12;303(6807):893-6. doi: 10.1136/bmj.303.6807.893. PMID: 1933004; PMCID: PMC1671226.

EVALUATION.simon_broome_diagnostic.v0, OBSERVATION.lab_test-lipids.v1