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DOI :10.26650/jchild.2023.1308877   IUP :10.26650/jchild.2023.1308877    Tam Metin (PDF)

Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases

Veysel Gök, Esra Pekpak Şahinoğlu, Hüseyin Tokgöz, Fatma Türkan Mutlu, Can Acıpayam, Kamuran Karaman, Defne Ay Tuncel, Ayşe Ceyda Ören, Ayşe Şimşek, Bilal Arslan, Hatice Beyza Ünal, Alper Özcan, Ebru Yılmaz, Sinan Akbayram, Musa Karakükcü, Ahmet Fayik Öner, Ümran Çalışkan, Türkan Patıroğlu, Ekrem Ünal

Objective: Rare factor deficiencies are a group of autosomal recessive bleeding disorders (with the exception of dysfibrinogenemia), which are characterized by the deficiency or dysfunction of one or more coagulation factors (F)I, FII, FV, FV+FVIII, FVII, FX, FXI, FXII, and FXIII.

Materials and Methods: 188 patients with a rare factor deficiency from seven distinct pediatric hematology centers in Turkey were obtained for the study.

Results: 60 (31.9%) patients had a family history of bleeding. Consanguinity was detected in 85 patients (45.2%). 128 patients (68.1%) were symptomatic; the most common bleeding symptom was epistaxis (34.6%) and followed by the bleeding of skin (19.1%), oral cavity (16.1%), soft tissue (8%), central nervous system (CNS) (6.2%), uterine (4.9%), joint (3.7%), gastrointestinal system (GIS) (3.7%), and urinary system (US) (3.7%). The first bleeding sites consist of nose (39%), CNS (10.9%), oral cavity (10.9%), skin (10.9%), umbilical cord (10.2%), GIS (5.5%), US (5.5%), heel (4.7%), and musculoskeletal system (2.3%). CNS hemorrhage was the most common in fibrinogen (n:4), FVII (n:6), and FX (n:2) deficiency, umbilical cord bleeding was the most common in fibrinogen (n:3) and FXIII (n:7) deficiency, heel bleeding was frequently seen in fibrinogen (n:6) deficiency. The life-threatening bleedings were CNS (n:27, 77.1%), GIS (n:7, 20%), and iliopsoas (n:1, 2.9%), respectively. The reasons leading to the diagnosis were bleeding (57.4%), preoperative screening (15.4%), incidental (15.4%), family history (6.4%), and postoperative bleeding (5.3%). 2/5 FXII deficiency patients had mild bleeding symptoms.

Conclusion: As bleeding disorders are somehow a rare group of disorder, early diagnosis and treatment are critical to reduce the high morbidity and mortality

Anahtar Kelimeler: Bleeding, Deficiency, Factor, Rare

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DIŞA AKTAR



APA

Gök, V., Pekpak Şahinoğlu, E., Tokgöz, H., Mutlu, F.T., Acıpayam, C., , K., Ay Tuncel, D., Ören, A.C., Şimşek, A., Arslan, B., Ünal, H.B., Özcan, A., Yılmaz, E., Akbayram, S., Karakükcü, M., Öner, A.F., Çalışkan, Ü., Patıroğlu, T., & Ünal, E. (2023). Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases. Çocuk Dergisi, 23(4), 349-355. https://doi.org/10.26650/jchild.2023.1308877


AMA

Gök V, Pekpak Şahinoğlu E, Tokgöz H, Mutlu F T, Acıpayam C, K, Ay Tuncel D, Ören A C, Şimşek A, Arslan B, Ünal H B, Özcan A, Yılmaz E, Akbayram S, Karakükcü M, Öner A F, Çalışkan Ü, Patıroğlu T, Ünal E. Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases. Çocuk Dergisi. 2023;23(4):349-355. https://doi.org/10.26650/jchild.2023.1308877


ABNT

Gök, V.; Pekpak Şahinoğlu, E.; Tokgöz, H.; Mutlu, F.T.; Acıpayam, C.; , K.; Ay Tuncel, D.; Ören, A.C.; Şimşek, A.; Arslan, B.; Ünal, H.B.; Özcan, A.; Yılmaz, E.; Akbayram, S.; Karakükcü, M.; Öner, A.F.; Çalışkan, Ü.; Patıroğlu, T.; Ünal, E. Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases. Çocuk Dergisi, [Publisher Location], v. 23, n. 4, p. 349-355, 2023.


Chicago: Author-Date Style

Gök, Veysel, and Esra Pekpak Şahinoğlu and Hüseyin Tokgöz and Fatma Türkan Mutlu and Can Acıpayam and Kamuran Karaman and Defne Ay Tuncel and Ayşe Ceyda Ören and Ayşe Şimşek and Bilal Arslan and Hatice Beyza Ünal and Alper Özcan and Ebru Yılmaz and Sinan Akbayram and Musa Karakükcü and Ahmet Fayik Öner and Ümran Çalışkan and Türkan Patıroğlu and Ekrem Ünal. 2023. “Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases.” Çocuk Dergisi 23, no. 4: 349-355. https://doi.org/10.26650/jchild.2023.1308877


Chicago: Humanities Style

Gök, Veysel, and Esra Pekpak Şahinoğlu and Hüseyin Tokgöz and Fatma Türkan Mutlu and Can Acıpayam and Kamuran Karaman and Defne Ay Tuncel and Ayşe Ceyda Ören and Ayşe Şimşek and Bilal Arslan and Hatice Beyza Ünal and Alper Özcan and Ebru Yılmaz and Sinan Akbayram and Musa Karakükcü and Ahmet Fayik Öner and Ümran Çalışkan and Türkan Patıroğlu and Ekrem Ünal. “Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases.” Çocuk Dergisi 23, no. 4 (Apr. 2024): 349-355. https://doi.org/10.26650/jchild.2023.1308877


Harvard: Australian Style

Gök, V & Pekpak Şahinoğlu, E & Tokgöz, H & Mutlu, FT & Acıpayam, C & , K & Ay Tuncel, D & Ören, AC & Şimşek, A & Arslan, B & Ünal, HB & Özcan, A & Yılmaz, E & Akbayram, S & Karakükcü, M & Öner, AF & Çalışkan, Ü & Patıroğlu, T & Ünal, E 2023, 'Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases', Çocuk Dergisi, vol. 23, no. 4, pp. 349-355, viewed 27 Apr. 2024, https://doi.org/10.26650/jchild.2023.1308877


Harvard: Author-Date Style

Gök, V. and Pekpak Şahinoğlu, E. and Tokgöz, H. and Mutlu, F.T. and Acıpayam, C. and , K. and Ay Tuncel, D. and Ören, A.C. and Şimşek, A. and Arslan, B. and Ünal, H.B. and Özcan, A. and Yılmaz, E. and Akbayram, S. and Karakükcü, M. and Öner, A.F. and Çalışkan, Ü. and Patıroğlu, T. and Ünal, E. (2023) ‘Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases’, Çocuk Dergisi, 23(4), pp. 349-355. https://doi.org/10.26650/jchild.2023.1308877 (27 Apr. 2024).


MLA

Gök, Veysel, and Esra Pekpak Şahinoğlu and Hüseyin Tokgöz and Fatma Türkan Mutlu and Can Acıpayam and Kamuran Karaman and Defne Ay Tuncel and Ayşe Ceyda Ören and Ayşe Şimşek and Bilal Arslan and Hatice Beyza Ünal and Alper Özcan and Ebru Yılmaz and Sinan Akbayram and Musa Karakükcü and Ahmet Fayik Öner and Ümran Çalışkan and Türkan Patıroğlu and Ekrem Ünal. “Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases.” Çocuk Dergisi, vol. 23, no. 4, 2023, pp. 349-355. [Database Container], https://doi.org/10.26650/jchild.2023.1308877


Vancouver

Gök V, Pekpak Şahinoğlu E, Tokgöz H, Mutlu FT, Acıpayam C, K, Ay Tuncel D, Ören AC, Şimşek A, Arslan B, Ünal HB, Özcan A, Yılmaz E, Akbayram S, Karakükcü M, Öner AF, Çalışkan Ü, Patıroğlu T, Ünal E. Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases. Çocuk Dergisi [Internet]. 27 Apr. 2024 [cited 27 Apr. 2024];23(4):349-355. Available from: https://doi.org/10.26650/jchild.2023.1308877 doi: 10.26650/jchild.2023.1308877


ISNAD

Gök, Veysel - Pekpak Şahinoğlu, Esra - Tokgöz, Hüseyin - Mutlu, FatmaTürkan - Acıpayam, Can - , Kamuran Karaman - Ay Tuncel, Defne - Ören, AyşeCeyda - Şimşek, Ayşe - Arslan, Bilal - Ünal, HaticeBeyza - Özcan, Alper - Yılmaz, Ebru - Akbayram, Sinan - Karakükcü, Musa - Öner, AhmetFayik - Çalışkan, Ümran - Patıroğlu, Türkan - Ünal, Ekrem. “Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases”. Çocuk Dergisi 23/4 (Apr. 2024): 349-355. https://doi.org/10.26650/jchild.2023.1308877



ZAMAN ÇİZELGESİ


Gönderim06.06.2023
Kabul28.10.2023
Çevrimiçi Yayınlanma20.12.2023

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