Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases

Authors : 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 Karakükçü, Ahmet Fayik Öne

Pages : 349-355

Doi:10.26650/jchild.2023.1308877

View : 54 | Download : 74

Publication Date : 2024-02-20

Article Type : Research Paper

Abstract :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.
Keywords : Bleeding, Deficiency, Factor, Rare

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