Araştırma Makalesi
Yıl 2024,
Cilt: 23 Sayı: 4, 349 - 355, 20.02.2024
Öz
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
Kaynakça
- Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am 2021;35(6):1181-96. google scholar
- Gök V, Ünal E. Comprehensive approach to hemophilia. Journal of Health Sciences and Medicine 2022;5:1199-206. google scholar
- Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P. Rare bleeding disorders. Haemophilia 2012;18 Suppl 4:148-53. google scholar
- Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, et al. Factor VII deficiency: a single-center experience. Clin Appl Thromb Hemost 2012;18:588-93. google scholar
- Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al; European Network of Rare Bleeding Disorders Group. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21. google scholar
- Siboni SM, Zanon E, Sottilotta G, Consonni D, Castaman G, Mikovic D, et al. Central nervous system bleeding in patients with rare bleeding disorders. Haemophilia 2012;18:34-8. google scholar
- Koç B, Zülfikar B. Inherited Rare Factor Deficiencies: Single-centre Experience/Kalitsal Nadir Faktor Eksiklikleri: Tek Merkez Deneyimi. Meandros Medical and Dental Journal 2021;22(1):1-7. google scholar
- Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Âlvarez Roman MT, et al. Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency. Blood Rev 2021;50:100833. google scholar
- Strumph K, Davila J, Mitchell WB. A neonate bearing a novel genetic variant within the factor XIII active site presenting with severe umbilical hemorrhage. Haemophilia 2020;26(6):324-6. google scholar
- Demidova E, Salomashkina V, Pshenichnikova O, Selivanova D, Yakovleva E, Zozulya N, et al. Factor XII deficiency: a clinical and molecular genetic study. Int J Hematol 2023 Jan 10. google scholar
- Bor MV, Feddersen S, Pedersen IS, Sidelmann JJ, Kristensen SR. Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding. Semin Thromb Hemost 2022;48(2):161-73. google scholar
- Öner N, Gürsel T, Kaya Z, Keskin EY, Koçak Ü, Albayrak M, et al. Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study. Transfus Apher Sci 2020;59(3):102728. google scholar
- Nielsen VG, Steenwyk BL, Gurley WQ. Contact activation prolongs clot lysis time in human plasma: role of thrombin-activatable fibrinolysis inhibitor and Factor XIII. J Heart Lung Transplant 2006;25:1247-52. google scholar
- Spreafico M, Peyvandi F. Combined Factor V and Factor VIII Deficiency. Semin Thromb Hemost 2009;35(4):390-9. google scholar
- Fışgın T, Balkan C, Celkan T, Kılınç Y, Türker M, Timur C, et al. Rare coagulation disorders: a retrospective analysis of 156 patients in Turkey. Turk J Haematol 2012;29(1):48-54. google scholar
- Öner N, Özek G. Severe Rare Bleeding Disorders: A Single-center Experience. J Pediatr Hematol Oncol 2021;43(5):652-4. google scholar
- Samur BM, Samur TG, Çiflikli FE, Özcan A, Gök V, Soykan R, et al. Evaluation of primary care physicians’ approaches to hemophilia and bleeding disorders: a questionnaire survey. Blood Coagul Fibrinolysis. 2022;33(7):381-8. google scholar
- Saes JL, Verhagen MJA, Meijer K, Cnossen MH, Schutgens REG, Peters M, et al. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study. Blood Adv 2020;4(20):5025-34. google scholar
- Tugcu D, Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, et al. How do we encounter rare factor deficiencies in children? Single-centre results from Turkey. Blood Coagul Fibrinolysis 2015;26(2):145-51. google scholar
- Kleber C, Sablotzki A, Casu S, Olivieri M, Thoms KM, Horter J, et al. The impact of acquired coagulation factor XIII deficiency in traumatic bleeding and wound healing. Crit Care 2022;26(1):69. google scholar
- Palla R, Siboni SM, Menegatti M, Musallam KM, Peyvandi F; European Network of Rare Bleeding Disorders (EN-RBD) group. Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders. Thromb Res 2016;148:128-34. google scholar
- Akyol Ş, Göl DK, Yılmaz E, Karaman ZF, Özcan A, Küçük A, et al. Intracranial hemorrhage in children with hemophilia. Journal of Translational and Practical Medicine 2022;1:85-8. google scholar
- Acharya SS, Coughlin A, Dimichele DM; North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004;2(2):248-56. google scholar
Yıl 2024,
Cilt: 23 Sayı: 4, 349 - 355, 20.02.2024
Öz
Kaynakça
- Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am 2021;35(6):1181-96. google scholar
- Gök V, Ünal E. Comprehensive approach to hemophilia. Journal of Health Sciences and Medicine 2022;5:1199-206. google scholar
- Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P. Rare bleeding disorders. Haemophilia 2012;18 Suppl 4:148-53. google scholar
- Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, et al. Factor VII deficiency: a single-center experience. Clin Appl Thromb Hemost 2012;18:588-93. google scholar
- Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al; European Network of Rare Bleeding Disorders Group. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21. google scholar
- Siboni SM, Zanon E, Sottilotta G, Consonni D, Castaman G, Mikovic D, et al. Central nervous system bleeding in patients with rare bleeding disorders. Haemophilia 2012;18:34-8. google scholar
- Koç B, Zülfikar B. Inherited Rare Factor Deficiencies: Single-centre Experience/Kalitsal Nadir Faktor Eksiklikleri: Tek Merkez Deneyimi. Meandros Medical and Dental Journal 2021;22(1):1-7. google scholar
- Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Âlvarez Roman MT, et al. Diagnosis, therapeutic advances, and key recommendations for the management of factor X deficiency. Blood Rev 2021;50:100833. google scholar
- Strumph K, Davila J, Mitchell WB. A neonate bearing a novel genetic variant within the factor XIII active site presenting with severe umbilical hemorrhage. Haemophilia 2020;26(6):324-6. google scholar
- Demidova E, Salomashkina V, Pshenichnikova O, Selivanova D, Yakovleva E, Zozulya N, et al. Factor XII deficiency: a clinical and molecular genetic study. Int J Hematol 2023 Jan 10. google scholar
- Bor MV, Feddersen S, Pedersen IS, Sidelmann JJ, Kristensen SR. Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding. Semin Thromb Hemost 2022;48(2):161-73. google scholar
- Öner N, Gürsel T, Kaya Z, Keskin EY, Koçak Ü, Albayrak M, et al. Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study. Transfus Apher Sci 2020;59(3):102728. google scholar
- Nielsen VG, Steenwyk BL, Gurley WQ. Contact activation prolongs clot lysis time in human plasma: role of thrombin-activatable fibrinolysis inhibitor and Factor XIII. J Heart Lung Transplant 2006;25:1247-52. google scholar
- Spreafico M, Peyvandi F. Combined Factor V and Factor VIII Deficiency. Semin Thromb Hemost 2009;35(4):390-9. google scholar
- Fışgın T, Balkan C, Celkan T, Kılınç Y, Türker M, Timur C, et al. Rare coagulation disorders: a retrospective analysis of 156 patients in Turkey. Turk J Haematol 2012;29(1):48-54. google scholar
- Öner N, Özek G. Severe Rare Bleeding Disorders: A Single-center Experience. J Pediatr Hematol Oncol 2021;43(5):652-4. google scholar
- Samur BM, Samur TG, Çiflikli FE, Özcan A, Gök V, Soykan R, et al. Evaluation of primary care physicians’ approaches to hemophilia and bleeding disorders: a questionnaire survey. Blood Coagul Fibrinolysis. 2022;33(7):381-8. google scholar
- Saes JL, Verhagen MJA, Meijer K, Cnossen MH, Schutgens REG, Peters M, et al. Bleeding severity in patients with rare bleeding disorders: real-life data from the RBiN study. Blood Adv 2020;4(20):5025-34. google scholar
- Tugcu D, Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, et al. How do we encounter rare factor deficiencies in children? Single-centre results from Turkey. Blood Coagul Fibrinolysis 2015;26(2):145-51. google scholar
- Kleber C, Sablotzki A, Casu S, Olivieri M, Thoms KM, Horter J, et al. The impact of acquired coagulation factor XIII deficiency in traumatic bleeding and wound healing. Crit Care 2022;26(1):69. google scholar
- Palla R, Siboni SM, Menegatti M, Musallam KM, Peyvandi F; European Network of Rare Bleeding Disorders (EN-RBD) group. Establishment of a bleeding score as a diagnostic tool for patients with rare bleeding disorders. Thromb Res 2016;148:128-34. google scholar
- Akyol Ş, Göl DK, Yılmaz E, Karaman ZF, Özcan A, Küçük A, et al. Intracranial hemorrhage in children with hemophilia. Journal of Translational and Practical Medicine 2022;1:85-8. google scholar
- Acharya SS, Coughlin A, Dimichele DM; North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2004;2(2):248-56. google scholar
Toplam 23 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Çocuk Sağlığı ve Hastalıkları (Diğer) |
| Bölüm | Araştırma Makaleleri |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Şubat 2024 |
| Yayımlandığı Sayı | Yıl 2024 Cilt: 23 Sayı: 4 |
