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Familial hypercholesterolemia increases CV risk, especially at young age
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NEW ORLEANS — Compared with the general population, people with genotyped familial hypercholesterolemia have elevated risk for CVD and CV mortality, and the difference is greatest at younger ages, according to registry data presented at the American Heart Association Scientific Sessions.
The researchers matched data on hospital stays at all Norwegian somatic hospitals between 1994 and 2009 with data from a registry of Norwegian patients with familial hypercholesterolemia (FH) from the same years.
During the study period, 1,411 patients with FH were hospitalized, and ischemic heart disease, including CVD, CHD, ACS and acute MI, was documented in 90% of them, Kjetil Retterstøl, MD, PhD, from the University of Oslo and Oslo University Hospital, Norway, said during a presentation. Mean age at first CV hospitalization was 45.1 years.
The researchers calculated standard incidence ratios for people with FH compared with the general population between 2001 and 2009. For acute MI, analysis included the genotyped FH population in Norway without prior MI (n = 4,164).
For women aged 25 to 39 years, the crude incidence rate of acute MI was 1.1 per 1,000 person-years (95% CI, 0.4-3), and the expected number of cases in the FH population was 0.3 per 1,000 person-years, but the standard incidence ratio for women with FH was 13.6 per 1,000 person-years (95% CI, 5.1-26.2), Retterstøl said. For men aged 25 to 39 years, the crude incidence rate of acute MI was 2.6 per 1,000 person-years (95% CI, 1.3-5.1), the expected number of cases was 1.07 per 1,000 person-years, but the standard incidence ratio for men with FH was 7.5 per 1,000 person-years (95% CI, 3.7-14.9).
A similar pattern was seen for CHD in women and men aged 25 to 39 years, he said.
Standard mortality rates in the FH population for both sexes were highest at ages 20 to 39 years.
Retterstøl said the study may be underestimating CVD and mortality risk in the FH population because those who died before diagnosis of FH were not included and two-thirds of the FH registry consists of people identified by cascade screening, generally considered to have less “severe” FH.
“In patients with genotyped FH, the relative excess risk for CVD and CVD mortality is highest in young age,” he said. “Despite a widespread use of potent statins and ezetimibe (Zetia, Merck), severe risk for CVD was observed.” – by Erik Swain
Reference:
Mundol LJ, et al. CSSR.02 – Precision Medicine on the Front Lines. Presented at: American Heart Association Scientific Sessions; Nov. 12-16, 2016; New Orleans.
Disclosure: Retterstøl reports receiving honoraria from Amgen, Merck Sharpe & Dohme Norway, Mills DA and Sanofi.
Perspective
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Joshua W. Knowles, MD, PhD, FAHA, FACC
This is an important confirmation that FH disproportionately affects young people in the prime of life. This is because there are few other competing risk factors, so any mortality from heart disease is very unexpected. And they see high rates.
These are consistent with classic data that is being reaffirmed in the modern era and reinforce the idea that we have not concentrated enough in this age group. We have done a good job in lowering CVD mortality and morbidity at older ages but not so much at younger ages.
Generally, medications (such as statins) are the primary therapy in younger patients and have a tremendous track record of safety and efficacy. Diet and exercise are also certainly important. At younger ages, education on the value of these medications is needed, as people don’t feel bad when they have FH until an event happens.
There was a paper in The New England Journal of Medicine (Wald DS, et al. N Engl J Med. 2016;doi:10.1056/NEJMoa1602777) showing the potential of screening children for FH at immunization visits. When we couple that type of study with the critical information from this study, it is obvious that our failure to act and screen appropriately at younger ages is leading to unnecessary morbidity and mortality. It is important to make more concerted efforts at family-based cascade screening. We never find an individual with FH, we only find families with FH.
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