Meral Kayikcioglu1, Ozlem Kuman-Tunçel2, Sebnem Pirildar2, Mehmet Yílmaz3, Leylagul Kaynar4, Melih Aktan5, Rana Berru Durmuş5, Cumali Gökçe6, Ahmet Temizhan7, Osman Ilhami Özcebe8, Tulay Karaagac Akyol8, Harika Okutan9, Saim Sağ10, Ozen Oz Gul11, Zafer Salcioglu12, Mustafa Yenercag13, Bulet Behlul Altunkeser14, Irfan Kuku15, Hamiyet Yílmaz Yasar16, Erdal Kurtoğlu17, Melis Demir18, Sinan Demircioğlu19, Zafer Pekkolay20, Osman Ílhan21, Lale Tokgozoglu22. 1. Department of Cardiology, Ege University Medical Faculty, Izmir, Turkey. Electronic address: meral.kayikcioglu@gmail.com. 2. Department of Psychiatry, Ege University Medical Faculty, Izmir, Turkey. 3. Department of Hematology, Gaziantep University Medical Faculty, Gaziantep, Turkey. 4. Department of Hematology, Erciyes University Medical Faculty, Kayseri, Turkey. 5. Department of Hematology, Istanbul University Istanbul Medical Faculty, Istanbul, Turkey. 6. Department of Endocrinology, Mustafa Kemal University Medical Faculty, Hatay, Turkey. 7. Department of Cardiology, Yuksek Ihtisas Training and Research Hospital, Ankara, Turkey. 8. Department of Hematology, Hacettepe University Medical Faculty, Ankara, Turkey. 9. Department of Hematology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey. 10. Department of Cardiology, Uludag University Medical Faculty, Bursa, Turkey. 11. Department of Endocrinology and Metabolism, Uludag University Medical Faculty, Bursa, Turkey. 12. Department of Pediatric Hematology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey. 13. Department of Cardiology, Mayis University Medical Faculty, Samsun, Turkey. 14. Department of Cardiology, Selcuk University Medical Faculty, Konya, Turkey. 15. Department of Hematology, Inonu University Medical Faculty, Malatya, Turkey. 16. Department of Endocrinology and Metabolism, Tepecik Training and Research Hospital, Izmir, Turkey. 17. Department of Hematology, Antalya Training and Research Hospital, Antalya, Turkey. 18. Department of Pediatric Metabolism, Behcet Uz Children Training and Research Hospital, Izmir, Turkey. 19. Department of Hematology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey. 20. Department of Endocrinology, Dicle University Medical Faculty, Diyarbakir, Turkey. 21. Department of Hematology, Ankara University Medical Faculty Ibn-i Sina Hospital, Ankara, Turkey. 22. Department of Cardiology, Hacettepe University Medical Faculty, Ankara, Turkey.
Abstract
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA). METHODS: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey. Demographic and disease characteristics data were obtained. For patients aged ≥18 years, additional data on psychosocial status were obtained via the SF-36 score, the Hospital Anxiety and Depression Scale, and a HoFH-specific questionnaire. RESULTS: There was no standardized approach to therapy between centers. Mean (±SD) frequency of LA sessions was every 19.9 (±14) days, with only 11.6% receiving LA weekly, and 85% of patients were not willing to increase LA frequency. The most common concerns of patients were disease prognosis (31%), and physical, aesthetic, and psychological problems (27.5%, 15.9%, and 11.6%, respectively). Lower age at diagnosis was associated with better QoL, lower anxiety, improved functioning, and greater emotional well-being compared to later diagnosis. CONCLUSIONS: These findings demonstrate that adult patients with HoFH undergoing LA, experience significant impairment of QoL with an increased risk of depression. From patients' point of view, LA is time-consuming, uncomfortable, and difficult to cope with. The speed of diagnosis and referral has a considerable impact on patient well-being.
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening inherited disease leading to early-onset atherosclerosis and associated morbidity. Because of its rarity, longitudinal data on the management of HoFH in the real world are lacking, particularly on the impact the condition has on quality of life (QoL), including the impact of the extracorporeal lipid removal procedure apheresis (LA). METHODS: The A-HIT1 study included 88 patients with HoFH aged ≥12 years receiving regular LA in 19 centers in Turkey. Demographic and disease characteristics data were obtained. For patients aged ≥18 years, additional data on psychosocial status were obtained via the SF-36 score, the Hospital Anxiety and Depression Scale, and a HoFH-specific questionnaire. RESULTS: There was no standardized approach to therapy between centers. Mean (±SD) frequency of LA sessions was every 19.9 (±14) days, with only 11.6% receiving LA weekly, and 85% of patients were not willing to increase LA frequency. The most common concerns of patients were disease prognosis (31%), and physical, aesthetic, and psychological problems (27.5%, 15.9%, and 11.6%, respectively). Lower age at diagnosis was associated with better QoL, lower anxiety, improved functioning, and greater emotional well-being compared to later diagnosis. CONCLUSIONS: These findings demonstrate that adult patients with HoFH undergoing LA, experience significant impairment of QoL with an increased risk of depression. From patients' point of view, LA is time-consuming, uncomfortable, and difficult to cope with. The speed of diagnosis and referral has a considerable impact on patient well-being.