Meral Kayikcioglu1, Lale Tokgozoglu2, Mehmet Yilmaz3, Leylagul Kaynar4, Melih Aktan5, Rana Berru Durmuş5, Cumali Gokce6, Ahmet Temizhan7, Osman Ilhami Ozcebe8, Tulay Karaagac Akyol8, Harika Okutan9, Saim Sag10, Ozen Oz Gul11, Zafer Salcioglu12, Mustafa Yenercag13, Bulent B Altunkeser14, Irfan Kuku15, Hamiyet Yilmaz Yasar16, Erdal Kurtoglu17, Melis Demir Kose18, Sinan Demircioglu19, Zafer Pekkolay20, Osman Ilhan21. 1. Ege University Medical Faculty, Department of Cardiology, Izmir, Turkey. Electronic address: meral.kayikcioglu@gmail.com. 2. Hacettepe University Medical Faculty, Department of Cardiology, Ankara, Turkey. 3. Gaziantep University Medical Faculty, Department of Hematology, Gaziantep, Turkey. 4. Erciyes University Medical Faculty, Department of Hematology, Kayseri, Turkey. 5. Istanbul University Istanbul Medical Faculty, Department of Hematology, Istanbul, Turkey. 6. Mustafa Kemal University Medical Faculty, Department of Endocrinology, Hatay, Turkey. 7. Yuksek Ihtisas Training and Research Hospital, Department of Cardiology, Ankara, Turkey. 8. Hacettepe University Medical Faculty, Department of Hematology, Ankara, Turkey. 9. Diskapi Yildirim Beyazit Training and Research Hospital, Department of Hematology, Ankara, Turkey. 10. Uludag University Medical Faculty, Department of Cardiology, Bursa, Turkey. 11. Uludag University Medical Faculty, Department of Endocrinology and Metabolism, Bursa, Turkey. 12. Kanuni Sultan Suleyman Training and Research Hospital, Department of Pediatric Hematology, Istanbul, Turkey. 13. 19 Mayis University Medical Faculty, Department of Cardiology, Samsun, Turkey. 14. Selcuk University Medical Faculty, Department of Cardiology, Konya, Turkey. 15. Inonu University Medical Faculty, Department of Hematology, Malatya, Turkey. 16. Tepecik Training and Research Hospital, Department of Endocrinology and Metabolism, Izmir, Turkey. 17. Antalya Training and Research Hospital, Department of Hematology, Antalya, Turkey. 18. Behcet Uz Children Training and Research Hospital, Department of Pediatric Metabolism, Izmir, Turkey. 19. Necmettin Erbakan University Meram Medical Faculty, Department of Hematology, Konya, Turkey. 20. Dicle University Medical Faculty, Department of Endocrinology, Diyarbakir, Turkey. 21. Ankara University Medical Faculty Ibn-i Sina Hospital, Department of Hematology, Ankara, Turkey.
Abstract
BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival. METHODS: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available. Participating centers provided patient information, including family history, treatment patterns and relevant laboratory values, via a standard questionnaire. RESULTS: The study evaluated 88 patients (mean age: 27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA with a clinical diagnosis of HoFH. Mean age at first symptom disease was 10 ± 10 years, and at diagnosis it was 12 ± 11 years; 74.7% were diagnosed before age 15 years; and only 31% before the age of 7. First referral of most patients was to pediatricians. Early onset coronary artery disease was present in 57.8% of patients. Mean age at first LA was 21 ± 12 years. Only 11 (12.5%) patients were undergoing LA weekly. Mean frequency of apheresis sessions was 19 ± 13 days. For the last four LA sessions, LDL-C levels reached the target in only in 5.7% of patients. CONCLUSIONS: Diagnosis of HoFH is delayed, and LDL targets are not reached. LA frequencies are not optimal. Urgent attention is needed to support the survival of patients with HoFH.
BACKGROUND AND AIMS: Homozygous familial hypercholesterolemia (HoFH) is a genetic condition characterized by lethally high levels of low-density lipoprotein cholesterol (LDL-C) from birth, and requires rapid and aggressive intervention to prevent death due to coronary heart disease and/or atherosclerosis. Where available, lipoprotein apheresis (LA) is the mainstay of treatment to promote survival. METHODS: A-HIT1 registry was conducted with the aim of providing insight to the real-life management of HoFH patients undergoing LA in Turkey, where LA procedures are fully reimbursed and widely available. Participating centers provided patient information, including family history, treatment patterns and relevant laboratory values, via a standard questionnaire. RESULTS: The study evaluated 88 patients (mean age: 27 ± 11 years, 41 women) in 19 centers. All patients were receiving regular LA with a clinical diagnosis of HoFH. Mean age at first symptom disease was 10 ± 10 years, and at diagnosis it was 12 ± 11 years; 74.7% were diagnosed before age 15 years; and only 31% before the age of 7. First referral of most patients was to pediatricians. Early onset coronary artery disease was present in 57.8% of patients. Mean age at first LA was 21 ± 12 years. Only 11 (12.5%) patients were undergoing LA weekly. Mean frequency of apheresis sessions was 19 ± 13 days. For the last four LA sessions, LDL-C levels reached the target in only in 5.7% of patients. CONCLUSIONS: Diagnosis of HoFH is delayed, and LDL targets are not reached. LA frequencies are not optimal. Urgent attention is needed to support the survival of patients with HoFH.
Authors: Mohammed Al Dubayee; Meral Kayikcioglu; Jeanine Roeters van Lennep; Nadia Hergli; Pedro Mata Journal: Adv Ther Date: 2022-04-26 Impact factor: 4.070