Vnitr Lek 2017, 63(1):25-30 | DOI: 10.36290/vnl.2017.005
ScreenPro FH - Screening Project for Familial Hypercholesterolemia in Central, Southern and Eastern Europe: Basic Epidemiology
- 1 Third Department of Medicine - Department of Endocrinology and Metabolism of the First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic
- 2 Molecular Genetics Lab, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic
- 3 Faculty of Medicine, Masaryk University, Brno, Czech Republic
- 4 Department of clinical Pharmacology and therapeutics, Academy for Postgraduate Education, Ministry of Health, Russian Federation
- 5 Institute of Internal Medicine, University of Debrecen Faculty of Medicine, Debrecen, Hungary
- 6 Department of Internal Medicine, Division of Metabolic Diseases, School of Medicine University of Zagreb, University Hospital Center Zagreb, Zagreb, Croatia
- 7 Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey
- 8 Coordination Center for Familial Hyperlipidemias, Slovak Medical University, Bratislava, Slovakia
- 9 Department of Hypertension, Medical University of Lodz, Lodz, Poland
- 11 Institute of Nutrition, FOaZOS, Slovak Medical University, Bratislava, Slovakia
- 12 Department of Cardiology and Cardiosurgery, Faculty of Medical Sciences, University of Warmia and Mazury, Olsztyn, Poland
- 13 Queen Giovanna University Hospital, Sofia, Bulgaria
- 14 University of Medicine Carol Davila, Colentina University Hospital, Bucharest, Romania
- 15 Institute of Cardiovascular Diseases, University of Medicine & Pharmacy Victor Babes, CardioPrevent Foundation Timisoara, Romania
- 16 Cantonal hospital, Zenica, Bosnia and Herzegovina
- 17 Cardiology Department, Ege University Medical School, Lipid Clinic, Izmir, Turkey
- 18 Institute of Cardiology, AMS Ukraine Dyslipidemia Department, Kiev, Ukraine
- 19 Russian Cardiology Research and Production Center, Moscow, Russian Federation
- 20 Latvian Institute of Cardiology and Regenerative Medicine, Faculty of Medicine, University of Latvia; Paul Stradins Clinical University Hospital, Riga, Latvia
- 21 Centre of Cardiology and Angiology, Vilnius University Hospital Santariskiu Klinikos, of Cardiology and Angiology, Vilnius, Lithuania
- 22 Division of Internal Medicine, Preventive Cardiology Unit and Medical Faculty, University of Ljubljana, University Medical Centre Ljubljana, Slovenia
- 23 Cardiovascular research Centre, Cardiovascular Institute "Dedinje", Belgrade, Serbia
- 24 National Centre of Cardiology and Therapy named after academician Mirsaid Mirrakhimov, Kyrgyz State Medical Academy naved after I. K. Akhunbaev, Bishkek, Kyrgyzstan
- 25 Republican Specialized Center of Cardiology, Tashkent, Uzbekistan
- 26 Department of Chemistry, University of Ioannina, Atherothrombosis Research Centre, Ioannina, Greece
- 27 LDL apheresis Centre, Dahr El Bachek Government University Hospital - DGUH, Roumieh - Lebanon
- 28 College of Medicine and Health Science at Sultan Qaboos University, Sultan Qaboos University Hospital, Muscat, Oman
Introduction:
Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available.
Methods:
All local leaders of the ScreenPro FH project were asked to provide local data on (a) expert guess of FH prevalence (b) the medical facilities focused on FH already in place (c) the diagnostic criteria used (d) the number of patients already evidenced in local database and (e) the availability of therapeutic options (especially plasma apheresis).
Results:
With the guess prevalence of FH around 1 : 500, we estimate the overall population of 588 363 FH heterozygotes in the CESE region. Only 14 108 persons (2.4 %) were depicted in local databases; but the depiction rate varied between 0.1 % and 31.6 %. Only four out of 17 participating countries reported the the LDL apheresis availability.
Conclusion:
Our data point to the large population of heterozygous FH patients in the CESE region but low diagnostic rate. However structures through the ScreenPro FH project are being created and we can hope that the results will appear soon.
Keywords: diagnosis; epidemiology; familial hypercholesterolemia; screening
Received: December 22, 2016; Published: January 1, 2017 Show citation
ACS | AIP | APA | ASA | Harvard | Chicago | Chicago Notes | IEEE | ISO690 | MLA | NLM | Turabian | Vancouver |
References
- Ceska R, Freiberger T, Vaclova M et al. Familial Hypercholesterolemia. Triton: Praha 2015. ISBN 978-80-7387-953-2.
- Nordestgaard BG, Chapman MJ, Humphries SE et al. 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): 3478-3490a. Dostupné z DOI: <http://dx.doi.org/10.1093/eurheartj/eht273>.
Go to original source...
Go to PubMed...
- Pejic RN. Familial hypercholesterolemia. Ochsner J 2014; 14(4): 669-672.
Go to original source...
Go to PubMed...
- Watts GF, Juniper A, van Bockxmeer F et al. Familial hypercholesterolaemia: a review with emphasis on evidence for treatment, new models of care and health economic evaluations. Int J Evid Based Healthc 2012; 10(3): 211-221. Dostupné z DOI: <http://10.1111/j.1744-1609.2012.00272.x>. Erratum in Int J Evid Based Healthc 2012; 10(4): 419.
Go to original source...
Go to PubMed...
- Goldberg AC, Hopkins PN, Toth PP et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5(3 Suppl): S1-S8. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2011.04.003>.
Go to original source...
Go to PubMed...
- Steyn K, Goldberg YP, Kotze MJ et al. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet 1996; 98(4): 479-484.
Go to original source...
Go to PubMed...
- Davignon J, Roy M. Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a "founder effect". Am J Cardiol 1993; 72(10): 6D-10D.
Go to original source...
Go to PubMed...
- Betard C, Kessling AM, Roy M et al. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum Genet 1992; 88(5): 529-536.
Go to original source...
Go to PubMed...
- Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet 2001; 357(9251): 165-168.
Go to original source...
Go to PubMed...
- Durst R, Colombo R, Shpitzen S et al. Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: positive selection is not always necessary to account for disease incidence among Ashkenazi Jews. Am J Hum Genet 2001; 68(5): 1172-1188.
Go to original source...
Go to PubMed...
- Edwards JA, Bernhardt B, Schnatz JD. Hyperlipidemia in a Lebanese community: difficulties in definition, diagnosis and decision on when to treat. J Med 1978; 9(2): 157-182.
Go to PubMed...
- Pang J, Poulter EB, Bell DA et al. Frequency of familial hypercholesterolemia in patients with early-onset coronary artery disease admitted to a coronary care unit. J Clin Lipidol 2015; 9(5): 703-708. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2015.07.005>.
Go to original source...
Go to PubMed...
- Austin MA, Hutter CM, Zimmern RL et al. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004; 160(5): 407-420.
Go to original source...
Go to PubMed...
- Marks D, Thorogood M, Neil HA et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003; 168(1): 1-14.
Go to original source...
Go to PubMed...
- Hopkins PN, Toth PP, Ballantyne CM et al. Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5(3 Suppl) :S9-S17. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2011.03.452>.
Go to original source...
Go to PubMed...
- Neil HA, Hammond T, Huxley R et al. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ 2000; 321(7254): 148.
Go to original source...
Go to PubMed...
- Benn M, Watts GF, Tybjaerg-Hansen A et al. Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97(11): 3956-3964. Dostupné z DOI: <http://dx.doi.org/10.1210/jc.2012-1563>.
Go to original source...
Go to PubMed...
- Shi Z, Yuan B, Zhao D et al. Familial hypercholesterolemia in China: Prevalence and evidence of underdetection and undertreatment in a community population. Int J Cardiol 2014; 174(3): 834-836. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ijcard.2014.04.165>.
Go to original source...
Go to PubMed...
- Watts GF, Shaw JE, Pang J et al. Prevalence and treatment of familial hypercholesterolaemia in Australian communities. Int J Cardiol 2015; 185: 69-71. Dostupné z DOI: <http://dx.doi.org/10.1016/j.ijcard.2015.03.027>.
Go to original source...
Go to PubMed...
- 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. Dostupné z DOI: <http://dx.doi.org/10.5114/aoms.2016.59700>.
Go to original source...
Go to PubMed...
- Wald DS, Bestwick JP, Morris JK et al. Child-Parent Familial Hypercholesterolemia Screening in Primary Care. N Engl J Med 2016; 375(17): 1628-1637.
Go to original source...
Go to PubMed...