Authors: Richard Češka, Tomáš Freiberger, Andrey V. Susekov, György Paragh, Željko Reiner, Lale Tokgözoğlu, Katarína Rašlová, Maciej Banach, Branislav Vohnout, Andrzej Rynkiewicz, Assen Goudev1, Gheorghe-Andrei Dan, Dan Gaiţă, Belma Pojskić, Ivan Pećin, Meral Kayıkçıoğlu, Olena Mitchenko, Marat V. Ezhov, Gustavs Latkovskis, Žaneta Petrulionienė, Zlatko Fras, Nebojsa Tasić, Erkin M. Mirrakhimov, Tolkun Murataliev, Alexander B. Shek, Vladimír Tuka, Alexandros D. Tselepis, Elie M. Moubarak, Khalid Al Rasadi
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) 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.
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