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Simon Broome Familial Hypercholesterolemia Register diagnostic criteria for familial hypercholesterolemia[1-3]

Simon Broome Familial Hypercholesterolemia Register diagnostic criteria for familial hypercholesterolemia[1-3]
Criteria Description
a Total cholesterol concentration above 7.5 mmol/liter (290 mg/dL) in adults or a total cholesterol concentration above 6.7 mmol/liter (259 mg/dL) in children aged less than 16 years, or
Low-density lipoprotein cholesterol concentration above 4.9 mmol/liter (189 mg/dL) in adults or above 4.0 mmol/liter (155 mg/dL) in children
b Tendinous xanthomata in the patient or a first-degree relative
c DNA-based evidence of mutation in the LDLR, PCSK9, or APOB gene
d Family history of myocardial infarction before age 50 years in a second-degree relative or before age 60 years in a first-degree relative
e Family history of raised total cholesterol concentration above 7.5 mmol/liter (290 mg/dL) in a first- or second-degree relative
A "definite" FH diagnosis requires either criteria a and b, or criterion c. A "probable" FH diagnosis requires either criteria a and d, or criteria a and e.
FH: familial hypercholesterolemia.
References:
  1. Risk of fatal coronary heart disease in familial hypercholesterolemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991; 303:893.
  2. Mortality in treated heterozygous familial hypercholesterolemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 1999; 142:105.
  3. National Collaborating Centre for Primary Care (UK). Identification and Management of Familial Hypercholesterolaemia (FH) [Internet]. London: Royal College of General Practitioners (UK); 2008 Aug. (NICE Clinical Guidelines, No. 71.) Appendix F, Simon Broome Diagnostic criteria for index individuals and relatives. Available from: https://www.ncbi.nlm.nih.gov/books/NBK53810/
Reproduced from: Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004; 160(5):407-420. By permission of Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. Copyright © 2017.
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