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Cardiovascular risk factor profiles in familial hypercholesterolemia patients with and without genetic mutation compared to a nationally representative sample of adults in a high-risk European country
- Source :
- American Heart Journal. 218:32-45
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- Background There is a paucity of data on the distribution of cardiovascular risk factors in patients with familial hypercholesterolemia (FH) as compared to the general population. The aim of the study was to compare cardiovascular risk factors in a cohort of FH patients to the representative sample of adults in Poland who represent a high–cardiovascular risk European region. Methods We compared the distribution of risk factors in 1,382 individuals with FH phenotype referred for genetic testing between 2006 and 2014 to the National Centre of Familial Hypercholesterolemia in Gdansk, Poland. The cohort was comprised of 637 positive FH(+) and 745 negative FH(−) patients who were compared to a nationally representative sample of 2,413 adults age 18-79, standardized by age and sex, from the NATPOL 2011 study (NATPOL). We analyzed patients' distribution of history of atherosclerotic cardiovascular disease (ASCVD) and standard risk factors including total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, triglycerides, systolic and diastolic blood pressure (SBP, DBP), body mass index, smoking, and diabetes. Results FH(+) patients (mean age 45.6 years) had the highest LDL-C of 241.7 mg/dL (95% CI 234.8-248.5) compared to 206.1 mg/dL (200.5-211.7) in FH(−) patients (mean age 48.2) and 126.2 mg/dL (124.8-127.6) in NATPOL. Mean SBP was the lowest in FH(+) patients at 128.7 mm Hg (126.7-130.7) compared to 133.4 mm Hg (132.6-134.3) in NATPOL and 134.4 mm Hg (132.3-136.5) in FH(−). No differences were found in the prevalence of diabetes and body mass index. Smoking was less common in FH(+) at 12.4% (9.4-15.4) compared to both FH(−) and NATPOL: 20.4% (16.6-24.1) and 28.4% (26.6-30.2), respectively. The prevalence of individuals with a history of ASCVD in both FH(+) and FH(−) was nearly 3-fold higher compared to NATPOL: 26% (21.8-30.1) and 26.6% (22.2-30.9) versus 9.5% (8.3-10.7), respectively. Conclusions The FH(+) patients had significantly higher mean LDL-C, but the levels of nonlipid factors were lower or similar compared to the other groups. Both FH(+) and FH(−) were characterized by a heavy burden of ASCVD. This suggests that cholesterol, and no other risk factors, is a key contributor to cardiovascular risk in patients with FH, especially those with genetic mutation.
- Subjects :
- Adult
Male
medicine.medical_specialty
Cross-sectional study
Population
Familial hypercholesterolemia
030204 cardiovascular system & hematology
Body Mass Index
Cohort Studies
Hyperlipoproteinemia Type II
03 medical and health sciences
0302 clinical medicine
Risk Factors
Internal medicine
Diabetes mellitus
Diabetes Mellitus
Prevalence
medicine
Humans
Genetic Testing
030212 general & internal medicine
Risk factor
education
Triglycerides
Aged
education.field_of_study
business.industry
Cholesterol, HDL
Smoking
Blood Pressure Determination
Cholesterol, LDL
Middle Aged
Atherosclerosis
medicine.disease
Cross-Sectional Studies
Mutation
Cohort
Female
Poland
Cardiology and Cardiovascular Medicine
business
Body mass index
Cohort study
Subjects
Details
- ISSN :
- 00028703
- Volume :
- 218
- Database :
- OpenAIRE
- Journal :
- American Heart Journal
- Accession number :
- edsair.doi.dedup.....a4447e09ea6b783f3458975bee64b35d