Table 2.

Diagnostic criteria of FH

DIAGNOSTIC CRITERIA	DESCRIPTION	DIAGNOSIS
Simon Broome Register	DNA mutation consistent with FH (category A) Lipid panel (category B): in adults, a TC level of > 7.5 mmol/L or LDL level of > 4.9 mmol/L; in pediatric patients, TC level of > 6.7 mmol/L or LDL level of > 4.0 mmol/L Tendinous xanthoma in the patient or any first- or second-degree relative (category C) Family history of myocardial infarction (category D): age < 60 y in first-degree relative; age < 50 y in second-degree relative Family history of a TC level of > 7.5 mmol/L in a first- or second- degree relative (category E)	Definite FH: Category A Category B + category C Probable FH: Category B + category D or E
Dutch Lipid Network	History and physical characteristics: Personal history of CAD, or first-degree relative < 18 y with LDL values > 95th percentile or with tendinous xanthoma or arcus senilis (2 points) Personal history of premature cerebral or peripheral vascular disease or first-degree adult relative with premature CAD or LDL values > 95th percentile (1 point) Tendinous xanthoma (6 points) Arcus senilis at age < 45 y (4 points) LDL levels: > 8.5 mmol/L (8 points) 6.51–8.5 mmol/L (5 points) 4.9–6.5 mmol/L (1 point) Genetic testing: LDL-R gene functional mutation (8 points)	Definite FH: ≥ 8 points Probable FH: 6–7 points Possible FH: 3–5 points

CAD—coronary artery disease, FH—familial hypercholesterolemia, LDL—low-density lipoprotein, LDL-R—low-density lipoprotein receptor, TC—total cholesterol. Data from Varghese.¹⁶