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
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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