A nation-wide survey of patients with homozygous familial hypercholesterolemia phenotype undergoing LDL-apheresis in Turkey (A-HIT 1 registry)
Autor: | Tulay Karaagac Akyol, Leylagül Kaynar, Rana Berru Durmuş, Zafer Salcioglu, Irfan Kuku, Cumali Gokce, Osman Ilhan, Erdal Kurtoğlu, Harika Okutan, Hamiyet Yilmaz Yasar, Mustafa Yenerçağ, Melih Aktan, Osman Özcebe, Zafer Pekkolay, Mehmet Yilmaz, Ahmet Temizhan, Sinan Demircioğlu, Melis Demir Kose, Lale Tokgozoglu, Saim Sağ, Bülent Behlül Altunkeser, Meral Kayıkçıoğlu, Ozen Oz Gul |
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Přispěvatelé: | Ondokuz Mayıs Üniversitesi |
Rok vydání: | 2018 |
Předmět: |
Adult
Male Registry Pediatrics medicine.medical_specialty Time Factors Adolescent Turkey Referral Homozygous familial hypercholesterolemia Familial hypercholesterolemia Disease 030204 cardiovascular system & hematology Hyperlipoproteinemia Type II Young Adult 03 medical and health sciences Lipoprotein apheresis 0302 clinical medicine Risk Factors medicine Humans Genetic Predisposition to Disease 030212 general & internal medicine Age of Onset Family history Child business.industry Homozygote Cholesterol LDL Middle Aged medicine.disease Coronary heart disease Cross-Sectional Studies Phenotype Treatment Outcome Apheresis Receptors LDL Cardiovascular Diseases LDL apheresis Clinical diagnosis Mutation Blood Component Removal lipids (amino acids peptides and proteins) Female Cardiology and Cardiovascular Medicine business Biomarkers |
Zdroj: | Atherosclerosis. 270:42-48 |
ISSN: | 0021-9150 |
Popis: | Yenercag, Mustafa/0000-0002-0933-7852; YILMAZ, MEHMET BIRHAN/0000-0002-8169-8628; Demircioglu, Sinan/0000-0003-1277-5105; pekkolay, zafer/0000-0002-5323-2257; Kaynar, Leylagul/0000-0002-2035-9462; durmus, rana berru/0000-0001-9182-2760 WOS: 000427639800007 PubMed: 29407887 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. (c) 2018 Elsevier B.V. All rights reserved. Aegerion pharmaceuticals; Amryt Pharmaceuticals This investigator initiated study was funded by Aegerion pharmaceuticals, and authors wish to thank Nigel Eastmond of Eastmond Medicomm Ltd for assistance in editing the final manuscript, which was funded by Amryt Pharmaceuticals. |
Databáze: | OpenAIRE |
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