Abstract
ObjectivesWhereas the importance of family history (FH) is widely recognized in cardiovascular risk assessment, its full potential could be underutilized, when applied with its current simple guidelines-based definition (cFH): presence of premature cardiovascular disease (CVD) in a first-degree relative. We tested the added value of a new, extended family history definition (eFH), also taking into account later onset of disease, second-degree relatives and number of affected relatives, on profiling cardiovascular risk and atherosclerotic burden in the general population.Designlongitudinal population study.Settingrandom, representative population sample from Erpe-Mere and Nieuwerkerken (Belgium, primary care).Subjects2524 male/female volunteers, aged 35–55 years, free from overt CVD.Main outcome measuresSubjects were extensively phenotyped including presence of atherosclerosis (ultrasound) and a newly developed FH questionnaire (4 generations).ResultsCompared to cFH, eFH was superior in predicting an adverse risk profile (glycemic state, elevated blood pressure, lipid abnormalities, presence of metabolic syndrome components) and presence of atherosclerosis (all age & sex-adjusted p<0.05). Unlike cFH, eFH remained a significant predictor of subclinical atherosclerosis after adjusting for confounders. Most relations with eFH were not graded but showed clear informational breakpoints, with absence of CVD (including late onset) in any first-degree relative being a negative predictor of atherosclerosis, and a particularly interesting phenotype for further study.ConclusionsA novel, extended FH definition is superior to the conventional definition in profiling cardiovascular risk and atherosclerotic burden in the general population. There remain clear opportunities to refine and increase the performance and informational content of this simple, readily-available inexpensive tool.
Highlights
Cardiovascular disease (CVD) aggregates in families [1,2,3,4]
Compared to Conventional family history definition (cFH), extended family history definition (eFH) was superior in predicting an adverse risk profile and presence of atherosclerosis
Unlike cFH, eFH remained a significant predictor of subclinical atherosclerosis after adjusting for confounders
Summary
Cardiovascular disease (CVD) aggregates in families [1,2,3,4]. Family history (FH) represents the integration of risk within a family from shared genetic susceptibilities and familial clustering of environmental exposures, lifestyles and behaviours [5]. Most definitions are assessments of either ‘‘any FH of CVD’’ or ‘‘CVD history in a first-degree relative’’ and are usually treated as a simple binary variable according to the occurrence or non-occurrence of disease [9,10]. The current most common definition used in guidelines (cFH) is occurrence of premature CVD (,55 years for men and ,65 years for women) in a first-degree relative [11]. Multiple approaches attempting to define which are the key elements of FH have been studied, including: age at onset (premature, late occurrence of disease), degree of relationship (first, second-degree), type of relative (sibling, parent), number of affected relatives and lineage (maternal, paternal) [10,12,13,14]
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