Meral Kayikcioglu1, Lale Tokgozoglu2, Volkan Dogan3, Ceyhun Ceyhan4, Abdullah Tuncez5, Merih Kutlu6, Ersel Onrat7, Gokhan Alici8, Mehmet Akbulut9, Ahmet Celik10, Dilek Yesilbursa11, Tayfun Sahin12, Alper Sonmez13, Oner Ozdogan14, Ahmet Temizhan15, Salih Kilic16, Fahri Bayram17, Tevfik Sabuncu18, Fatma Yilmaz Coskun19, Muge Ildizli20, Emre Durakoglugil21, Bahadir Kirilmaz22, Mehmet Birhan Yilmaz23, Zerrin Yigit24, Aytul Belgi Yildirim25, Omer Gedikli26, Selim Topcu27, Aytekin Oğuz28, Mesut Demir29, Mustafa Yenerçağ30, Aylin Yıldırır31, Sabri Demircan32, Mehmet Yilmaz19, Leyla Gul Kaynar17, Melih Aktan33, Rana Berru Durmus33, Cumali Gokce34, Osman İlhami Ozcebe2, Tulay Karaagac Akyol2, Harika Okutan35, Saim Sag11, Ozen Oz Gul11, Zafer Salcioglu36, Bülent Behlul Altunkeser5, Irfan Kuku37, Hurriyet Yilmaz Yasar14, Erdal Kurtoglu38, Melis Demir Kose39, Sinan Demircioglu40, Zafer Pekkolay41, Osman Ilhan42, Levent H Can43. 1. Ege Univ Faculty of Med, Izmir, Turkey. Electronic address: meral.kayikcioglu@gmail.com. 2. Hacettepe Univ Faculty of Med, Ankara, Turkey. 3. Mugla Sitki Kocman Univ Faculty of Med, Mugla, Turkey. 4. Adnan Menderes Univ Faculty of Med, Aydin, Turkey. 5. Selcuk Univ Faculty of Med, Konya, Turkey. 6. Karadeniz Teknik Univ Faculty of Med, Trabzon, Turkey. 7. Kocatepe Univ Faculty of Med, Afyon, Turkey. 8. Kartal Kosuyolu Res & Training Hosp, Istanbul, Turkey. 9. Firat Univ Faculty of Med, Elazig, Turkey. 10. Mersin Univ Faculty of Med, Mersin, Turkey. 11. Uludag Univ Faculty of Med, Bursa, Turkey. 12. Kocaeli Univ Faculty of Med, Kocaeli, Turkey. 13. Gulhane Res & Training Hosp, Ankara, Turkey. 14. Tepecik Res & Training Hosp, Izmir, Turkey. 15. Yuksek Ihtisas Res & Training Hosp, Ankara, Turkey. 16. Nizip State Hosp, Gaziantep, Turkey. 17. Erciyes Univ Faculty of Med, Kayseri, Turkey. 18. Harran Univ Faculty of Med, Sanliurfa, Turkey. 19. Gaziantep Univ Faculty of Med, Gaziantep, Turkey. 20. Sultanbeyli State Hosp, Istanbul, Turkey. 21. Recep Tayyip Erdogan Univ Faculty of Med, Rize, Turkey. 22. 18 Mart Univ Faculty of Med, Canakkale, Turkey. 23. Cumhuriyet Univ Faculty of Med, Sivas, Turkey. 24. Istanbul University Cardiology Institute, Istanbul, Turkey. 25. Akdeniz Univ Faculty of Med, Antalya, Turkey. 26. 19 Mayis Univ Faculty of Med, Samsun, Turkey. 27. Ataturk Univ Faculty of Med, Erzurum, Turkey. 28. Medeniyet Univ Faculty of Med, Istanbul, Turkey. 29. Cukurova Univ Faculty of Med, Adana, Turkey. 30. Samsun Res & Training Hosp, Samsun, Turkey. 31. Baskent Univ Faculty of Med, Ankara, Turkey. 32. İstanbul Bilim Univ Faculty of Med, Istanbul, Turkey. 33. Istanbul University Istanbul Univ Faculty of Med, Istanbul, Turkey. 34. Mustafa Kemal Univ Faculty of Med Hatay, Turkey. 35. Diskapi Yildirim Beyazit Res & Training Hosp, Ankara, Turkey. 36. Kanuni Sultan Suleyman Res & Training Hosp, Istanbul, Turkey. 37. Inonu Univ Faculty of Med, Malatya, Turkey. 38. Antalya Res & Training Hosp, Antalya, Turkey. 39. Behcet Uz Children Res & Training Hosp, Izmir, Turkey. 40. Necmettin Erbakan Univ Faculty of Med, Konya, Turkey. 41. Dicle Univ Faculty of Med, Diyarbakir, Turkey. 42. Ankara Univ Faculty of Med, Ankara, Turkey. 43. Ege Univ Faculty of Med, Izmir, Turkey.
Abstract
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). METHODS: A-HIT1 is a survey of homozygous FH patients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FH patients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. RESULTS: A-HIT1 evaluated 88 patients (27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 ± 7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 ± 13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 ± 13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FH patients (53 ± 8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. CONCLUSIONS: The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common genetic disease of high-level cholesterol leading to premature atherosclerosis. One of the key aspects to overcome FH burden is the generation of large-scale reliable data in terms of registries. This manuscript underlines the important results of nation-wide Turkish FH registries (A-HIT1 and A-HIT2). METHODS: A-HIT1 is a survey of homozygous FHpatients undergoing low density lipoprotein (LDL) apheresis (LA). A-HIT2 is a registry of adult FHpatients (homozygous and heterozygous) admitted to outpatient clinics. Both registries used clinical diagnosis of FH. RESULTS: A-HIT1 evaluated 88 patients (27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA. There was a 7.37 ± 7.1-year delay between diagnosis and initiation of LA. LDL-cholesterol levels reached the target only in 5 cases. Mean frequency of apheresis sessions was 19 ± 13 days. None of the centers had a standardized approach for LA. Mean frequency of apheresis sessions was every 19 ± 13 (7-90) days. Only 2 centers were aware of the target LDL levels. A-HIT2 enrolled 1071 FHpatients (53 ± 8 years, 606 women) from 31 outpatients clinics specialized in cardiology (27), internal medicine (1), and endocrinology (3); 96.4% were heterozygous. 459 patients were on statin treatment. LDL targets were attained in 23 patients (2.1% of the whole population, 5% receiving statin) on treatment. However, 66% of statin-receiving patients were on intense doses of statins. Awareness of FH was 9.5% in the whole patient population. CONCLUSIONS: The first nationwide FH registries revealed that FH is still undertreated even in specialized centers in Turkey. Additional effective treatment regiments are urgently needed.