open access

Vol 76, No 6 (2018)
Original articles
Published online: 2018-02-02
Submitted: 2017-12-07
Accepted: 2018-01-31
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Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practices in Poland

Krzysztof Chlebus, Barbara Cybulska, Marcin Gruchała, Anna Smaga, Katarzyna Wróbel, Bogdan Wojtyniak, Marcin Pajkowski, Piotr Jankowski, Tomasz Zdrojewski
DOI: 10.5603/KP.a2018.0053
·
Kardiol Pol 2018;76(6):960-967.

open access

Vol 76, No 6 (2018)
Original articles
Published online: 2018-02-02
Submitted: 2017-12-07
Accepted: 2018-01-31

Abstract

Background: Familial hypercholesterolaemia (FH) is the most common genetic disease leading to premature atherosclerosis.

Aim: The aim of the study was to evaluate the prevalence, diagnosis, and treatment of FH in outpatient practices in Poland.

Methods: The study included a representative sample of 147 primary care physicians, cardiologists, and diabetologists caring for 2812 adult patients with hypercholesterolaemia and low-density lipoprotein cholesterol (LDL-C) level > 1.8 mmol/L, who were treated with statins or did not receive statins due to intolerance or contraindications. The physicians declared whether they diagnosed FH in the study group. In addition, we evaluated the Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH in all patients. The results were weighted and extrapolated to the general outpatient population in Poland. Treatment and its effectiveness were also evaluated.

Results: FH6+ score by the DLCN criteria was found in 3.6% of the study group, which translates by extrapolation to 136,300 adult patients with FH in Poland. Among patients with FH6+, this diagnosis was correctly made by physicians in 25% of cases and was not established in 75% of cases. Only 32.8% of patients received high statin doses. High LDL-C levels were found in a large proportion of patients, including levels ≥ 5.0 mmol/L in 42.7% of patients and ≥ 4.1 mmol/L in 59.7% of patients.

Conclusions: Familial hypercholesterolaemia is inadequately diagnosed and treated in Poland, which calls for a radical im­provement of pre- and postgraduate education in this regard.

Abstract

Background: Familial hypercholesterolaemia (FH) is the most common genetic disease leading to premature atherosclerosis.

Aim: The aim of the study was to evaluate the prevalence, diagnosis, and treatment of FH in outpatient practices in Poland.

Methods: The study included a representative sample of 147 primary care physicians, cardiologists, and diabetologists caring for 2812 adult patients with hypercholesterolaemia and low-density lipoprotein cholesterol (LDL-C) level > 1.8 mmol/L, who were treated with statins or did not receive statins due to intolerance or contraindications. The physicians declared whether they diagnosed FH in the study group. In addition, we evaluated the Dutch Lipid Clinic Network (DLCN) diagnostic criteria for FH in all patients. The results were weighted and extrapolated to the general outpatient population in Poland. Treatment and its effectiveness were also evaluated.

Results: FH6+ score by the DLCN criteria was found in 3.6% of the study group, which translates by extrapolation to 136,300 adult patients with FH in Poland. Among patients with FH6+, this diagnosis was correctly made by physicians in 25% of cases and was not established in 75% of cases. Only 32.8% of patients received high statin doses. High LDL-C levels were found in a large proportion of patients, including levels ≥ 5.0 mmol/L in 42.7% of patients and ≥ 4.1 mmol/L in 59.7% of patients.

Conclusions: Familial hypercholesterolaemia is inadequately diagnosed and treated in Poland, which calls for a radical im­provement of pre- and postgraduate education in this regard.

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Keywords

familial hypercholesterolaemia, epidemiology, outpatient practice, survey

About this article
Title

Prevalence, diagnosis, and treatment of familial hypercholesterolaemia in outpatient practices in Poland

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 76, No 6 (2018)

Pages

960-967

Published online

2018-02-02

DOI

10.5603/KP.a2018.0053

Bibliographic record

Kardiol Pol 2018;76(6):960-967.

Keywords

familial hypercholesterolaemia
epidemiology
outpatient practice
survey

Authors

Krzysztof Chlebus
Barbara Cybulska
Marcin Gruchała
Anna Smaga
Katarzyna Wróbel
Bogdan Wojtyniak
Marcin Pajkowski
Piotr Jankowski
Tomasz Zdrojewski

References (20)
  1. Pajak A, Szafraniec K, Polak M, et al. Prevalence of familial hypercholesterolemia: a meta-analysis of six large, observational, population-based studies in Poland. Arch Med Sci. 2016; 12(4): 687–696.
  2. Rynkiewicz A, Cybulska B, Banach M, et al. Postępowanie w heterozygotycznej hipercholesterolemii rodzinnej. Stanowisko Forum Ekspertów Lipidowych. Kardiol Pol. 2013; 71(1): 107–111.
  3. Nordestgaard BG, Chapman MJ, Humphries SE, et al. European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013; 34(45): 3478–90a.
  4. Kastelein JJP, Ginsberg HN, Langslet G, et al. ODYSSEY FH I and FH II: 78 week results with alirocumab treatment in 735 patients with heterozygous familial hypercholesterolaemia. Eur Heart J. 2015; 36(43): 2996–3003.
  5. Ginsberg HN, Rader DJ, Raal FJ, et al. Efficacy and Safety of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia and LDL-C of 160 mg/dl or Higher. Cardiovasc Drugs Ther. 2016; 30(5): 473–483.
  6. Raal FJ, Stein EA, Dufour R, et al. RUTHERFORD-2 Investigators. PCSK9 inhibition with evolocumab (AMG 145) in heterozygous familial hypercholesterolaemia (RUTHERFORD-2): a randomised, double-blind, placebo-controlled trial. Lancet. 2015; 385(9965): 331–340.
  7. Gidding SS, Champagne MA, de Ferranti SD, et al. American Heart Association Atherosclerosis, Hypertension, and Obesity in Young Committee of Council on Cardiovascular Disease in Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and Council on Lifestyle and Cardiometabolic Health. The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. Circulation. 2015; 132(22): 2167–2192.
  8. Catapano AL, Graham I, De Backer G, et al. ESC Scientific Document Group. 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. Eur Heart J. 2016; 37(39): 2999–3058.
  9. Santos RD, Gidding SS, Hegele RA, et al. International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel. Lancet Diabetes Endocrinol. 2016; 4(10): 850–861.
  10. Orringer CE, Jacobson TA, Saseen JJ, et al. Update on the use of PCSK9 inhibitors in adults: Recommendations from an Expert Panel of the National Lipid Association. J Clin Lipidol. 2017; 11(4): 880–890.
  11. Benn M, Watts GF, Tybjærg-Hansen A, et al. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J. 2016; 37(17): 1384–1394.
  12. Zamora A, Masana L, Comas-Cufí M, et al. XULA and ISV-Girona groups. Familial hypercholesterolemia in a European Mediterranean population-Prevalence and clinical data from 2.5 million primary care patients. J Clin Lipidol. 2017; 11(4): 1013–1022.
  13. Leren TP, Manshaus T, Skovholt U, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med. 2004; 4(1): 75–85.
  14. De Backer G, Besseling J, Chapman J, et al. EUROASPIRE Investigators. Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology. Atherosclerosis. 2015; 241(1): 169–175.
  15. Kłosiewicz-Latoszek L, Cybulska B, Białobrzeska-Paluszkiewicz J, et al. Clinical management of heterozygous familial hypercholesterolaemia in Polish outpatient metabolic clinic. Arch Med Sci. 2017(w druku).
  16. Jankowski P, Czarnecka D, Łukaszewska A, et al. Factors related to the effectiveness of hypercholesterolemia treatment following hospitalization for coronary artery disease. Pol Arch Med Wewn. 2016; 126(6): 388–394.
  17. Pijlman AH, Huijgen R, Verhagen SN, et al. Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis. 2010; 209(1): 189–194.
  18. Landmesser U, Chapman MJ, Stock JK, et al. 2017 Update of ESC/EAS Task Force on practical clinical guidance for proprotein convertase subtilisin/kexin type 9 inhibition in patients with atherosclerotic cardiovascular disease or in familial hypercholesterolaemia. Eur Heart J. 2017 [Epub ahead of print].
  19. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008; 337: a2423.
  20. Besseling J, Hovingh GK, Huijgen R, et al. Statins in Familial Hypercholesterolemia: Consequences for Coronary Artery Disease and All-Cause Mortality. J Am Coll Cardiol. 2016; 68(3): 252–260.

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