ScreenPro FH – projekt v oblasti screeningu zaměřený na familiární hypercholesterolemii ve střední, jižní a východní Evropě: základní epidemiologie

English version

Autoři: Richard Češka ¹; Tomáš Freiberger ^2,3; Andrey V. Susekov ⁴; György Paragh ⁵; Željko Reiner ⁶; Lale Tokgözoğlu ⁷; Katarína Rašlová ⁸; Maciej Banach ⁹; Branislav Vohnout ^8,11; Andrzej Rynkiewicz ¹²; Assen Goudev ¹³; Gheorghe-Andrei Dan ¹⁴; Dan Gaiţă ¹⁵; Belma Pojskić ¹⁶; Ivan Pećin ⁶; Meral Kayıkçıoğlu ¹⁷; Olena Mitchenko ¹⁸; Marat V. Ezhov ¹⁹; Gustavs Latkovskis ²⁰; Žaneta Petrulionienė ²¹; Zlatko Fras ²²; Nebojsa Tasić ²³; Erkin M. Mirrakhimov ²⁴; Tolkun Murataliev ²⁴; Alexander B. Shek ²⁵; Vladimír Tuka ¹; Alexandros D. Tselepis ²⁶; Elie M. Moubarak ²⁷; Khalid Al Rasadi ²⁸
Působiště autorů: Paul Stradins Clinical University Hospital, Riga, Latvia ; Third Department of Medicine – Department of Endocrinology and Metabolism of the First Faculty of Medicine, Charles Universit and General University Hospital, Prague, Czech Republic ¹; Molecular Genetics Lab, Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic ²; Faculty of Medicine, Masaryk University, Brno, Czech Republic ³; Department of clinical Pharmacology and therapeutics, Academy for Postgraduate Education, Ministry of Health, Russian Federation ⁴; Institute of Internal Medicine, University of Debrecen Faculty of Medicine, Debrecen, Hungary ⁵; Department of Internal Medicine, Division of Metabolic Diseases, School of Medicine University of Zagreb, University Hospital Center Zagreb, Zagreb, Croatia ⁶; Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey ⁷; Coordination Center for Familial Hyperlipidemias, Slovak Medical University, Bratislava, Slovakia ⁸; Department of Hypertension, Medical University of Lodz, Lodz, Poland ⁹; Institute of Nutrition, FOaZOS, Slovak Medical University, Bratislava, Slovakia ¹¹; Department of Cardiology and Cardiosurgery, Faculty of Medical Sciences, University of Warmia and Mazury, Olsztyn, Poland ¹²; Queen Giovanna University Hospital, Sofia, Bulgaria ¹³; University of Medicine Carol Davila, Colentina University Hospital, Bucharest, Romania ¹⁴; Institute of Cardiovascular Diseases, University of Medicine & Pharmacy Victor Babes, CardioPrevent Foundation Timisoara, Romania ¹⁵; Cantonal hospital, Zenica, Bosnia and Herzegovina ¹⁶; Cardiology Department, Ege University Medical School, Lipid Clinic, Izmir, Turkey ¹⁷; Institute of Cardiology, AMS Ukraine Dyslipidemia Department, Kiev, Ukraine ¹⁸; Russian Cardiology Research and Production Center, Moscow, Russian Federation ¹⁹; Latvian Institute of Cardiology and Regenerative Medicine, Faculty of Medicine, University of Latvia ²⁰; Centre of Cardiology and Angiology, Vilnius University Hospital Santariskiu Klinikos, of Cardiology and Angiology, Vilnius, Lithuania ²¹; Division of Internal Medicine, Preventive Cardiology Unit and Medical Faculty, University of Ljubljana, University Medical Centre Ljubljana, Slovenia ²²; Cardiovascular research Centre, Cardiovascular Institute “Dedinje”, Belgrade, Serbia ²³; National Centre of Cardiology and Therapy named after academician Mirsaid Mirrakhimov, Kyrgyz State Medical Academy naved after I. K. Akhunbaev, Bishkek, Kyrgyzstan ²⁴; Republican Specialized Center of Cardiology, Tashkent, Uzbekistan ²⁵; Department of Chemistry, University of Ioannina, Atherothrombosis Research Centre, Ioannina, Greece ²⁶; LDL apheresis Centre, Dahr El Bachek Government University Hospital – DGUH, Roumieh – Lebanon ²⁷; College of Medicine and Health Science at Sultan Qaboos University, Sultan Qaboos University Hospital, Muscat, Oman ²⁸
Vyšlo v časopise: Vnitř Lék 2017; 63(1): 25-30
Kategorie: Původní práce

Souhrn

Úvod:
I přes velký pokrok v nedávné době je familiární hypercholesterolemie (FH) stále ještě celosvětově podceňované, nedostatečně diagnostikované, a tedy i nedostatečně léčené onemocnění. O přesné prevalenci pacientů postižených familiární hypercholesterolemií v regionu střední, východní a jižní Evropy (CESE) máme jen velmi málo informací. Cílem studie bylo popsat na základě dostupných údajů epidemiologickou situaci v regionu CESE.

Metody:
Všichni vedoucí představitelé projektu ScreenPro FH v jednotlivých oblastech byli požádáni o poskytnutí lokálních údajů, které se týkají (a) expertního odhadu prevalence FH, (b) již fungujících zdravotnických zařízení, (c) použitých diagnostických kritérií, (d) počtu pacientů již zavedených v místní databázi a konečně (e) dostupnosti možností léčby (zejména plazmaferézy).

Výsledky:
Vzhledem k odhadované prevalenci FH přibližně 1 : 500 odhadujeme, že celková populace FH heterozygotů v regionu CESE zahrnuje 588 363 osob. V místních databázích se však zobrazilo pouze 14 108 osob (2,4 %), přičemž míra zobrazení se lišila v rozmezí od 0,1 % až 31,6 %. Pouze 4 země oznámily dostupnost LDL aferézy.

Závěr:
Naše údaje svědčí o velké populaci pacientů postižených heterozygotní formou FH v regionu CESE a zároveň o nízkých podílech jejich zobrazení. V rámci projektu ScreenPro FH jsou však nyní vytvářeny potřebné struktury a můžeme tak doufat v dosažení příznivějších výsledků.

Klíčová slova:
diagnóza – epidemiologie – familiární hypercholesterolemie – screening

Zdroje

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