2007
DOI: 10.1016/j.clinbiochem.2007.09.012
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No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study

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Cited by 4 publications
(2 citation statements)
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“…It is currently estimated that only 15 to 20% of patients with FH are actually diagnosed [57,58]. A study on 643 Danish probands could not even find a single phenotypic characteristic to predict the existence of a mutation [59]. A more recent study on 696 possible FH patients in Portugal showed that genetic diagnosis for cardiovascular risk stratification was superior to clinical diagnosis using the Simon Broome criteria [60].…”
Section: Introductionmentioning
confidence: 99%
“…It is currently estimated that only 15 to 20% of patients with FH are actually diagnosed [57,58]. A study on 643 Danish probands could not even find a single phenotypic characteristic to predict the existence of a mutation [59]. A more recent study on 696 possible FH patients in Portugal showed that genetic diagnosis for cardiovascular risk stratification was superior to clinical diagnosis using the Simon Broome criteria [60].…”
Section: Introductionmentioning
confidence: 99%
“…Although it may be possible that a proportion of these patients have a mutation in a gene yet to be identified [1,2], it is most likely that the majority of those in whom no mutation can yet be identified do not have true monogenic autosomal dominant hypercholesterolaemia. In a study of 643 probands from Denmark [21], no patient characteristics predicted the presence or absence of a mutation, and current thinking is that any patient fulfilling the criteria for familial hypercholesterolaemia should be offered a DNA test.…”
Section: Methodologies and Detection Ratesmentioning
confidence: 99%