Nadir Faktör Eksikliği Olan Hastaların Klinik Özelliklerinin, Laboratuvar Bulgularının ve Uygulanan Tedavilerin Değerlendirilmesi: Retrospektif Tek Merkez Deneyimi
Abstract
Amaç: Nadir faktör eksikliği (NFE) olan hastalar asemptomatik olabildikleri gibi, hayatı tehdit eden kanama ile de başvurabilirler. Yapılan çalışmalarda faktör aktivite düzeyi ile kanama şiddeti arasında direkt bir ilişki gösterilememiştir. Tanı konulmasında ve klinik izlemlerinde zorluklar yaşanmaktadır. Bu çalışmamızda NFE tanısı ile takip ettiğimiz hastaların klinik ve laboratuvar bulgularını değerlendirerek Türkiye verilerine katkı sağlamak istedik.
Gereç ve Yöntem: 2005-2020 yılları arasında, NFE tanısı ile takip edilen 116 hasta çalışmaya alındı. Hastaların verileri hasta dosyaları ve elektronik kayıt sistemi kullanılarak retrospektif olarak incelendi.
Bulgular: En sık görülen FVII eksikliği (%76) ve FXI % (8,6) eksikliği idi. Tanı sırasında 50 (%43,1) hasta semptomatik, 66 (%56,9) hasta asemptomatik idi. En sık şikayet burun kanaması (n:18, % 15,5) ve kolay morarma (n:8, %6,9) idi. Beş hasta (FVII eksikliği (3), FXIII eksikliği (2)) intrakraniyal kanama (İKK) ile tanı almıştı. On iki (%10,4) hastanın yenidoğan (YD) döneminde semptomları vardı. Çalışmamızda 97 hastanın pıhtılaşma sistemi tromboelastogram (TEG) ile değerlendirildi ve 67’si (%69) normal, 30’u (%31) faktör eksikliği ile uyumluydu. İki grup karşılaştırıldığında kanama eğilimini belirlemede TEG’in etkin olduğu gösterildi (Fisher exact test: p<0,001). Kanama şiddeti ve faktör düzeyi dikkate alınarak 8 hastaya (%7) proflaktik tedavi başlanmıştı: FXIII eksikliği (3), FX eksikliği (3), FVII eksikliği (1) ve afibrinojenemi (1).
Sonuç: Nadir faktör eksikliği olan hastaların asemptomatik olabilecekleri unutulmamalıdır. Tromboelastogram hastaların kanama eğilimini belirlemede etkin biçimde kullanılabilen bir yöntemdir. Yenidoğan döneminde kanama bulgusu olan hastalar yakından izlenerek, erken tanı ile daha sonra gelişebilecek kanamaların önüne geçilebilir.
Supporting Institution
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Project Number
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Thanks
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References
- Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am 2021;35:1181-96. google scholar
- Menegatti M, Palla R. Clinical and laboratory diagnosis of rare coagulation disorders (RCDs). Thromb Res 2020;196:603-8. google scholar
- Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: Diagnosis and treatment. Blood 2015;125:2052-61. google scholar
- Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. 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
- 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;26:145-51. 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;59:102728. google scholar
- Mahmood R, Mahmood A, Khan M, Ali S, Khan SA, Jaffar SR. Rare bleeding disorders: Spectrum of disease and clinical manifestations in the Pakistani population. Blood Res 2020;55:146-50. google scholar
- Farjami A, Haghpanah S, Arasteh P, Ardeshiri R, Tavoosi H, Zahedi Z, et al. Epidemiology of Hereditary Coagulation Bleeding Disorders: A 15-Year Experience From Southern Iran. Hosp Pract Res 2017;2:113-7. google scholar
- Sharma SK, Kumar S, Seth T, Mishra P, Agrawal N, Singh G, et al. Clinical profile of patients with rare inherited coagulation disorders: A retrospective analysis of 67 patients from Northern India. Mediterr J Hematol Infect Dis 2012;4(1):e2012057. google scholar
- Fişgin T, Balkan C, Celkan T, Kilinç Y, Türker M, Timur Ç, et al. Rare coagulation disorders: A retrospective analysis of 156 patients in Turkey. Turkish J Hematol 2012;29:48-54. google scholar
- Shapiro A. The use of prophylaxis in the treatment of rare bleeding disorders. Thromb Res 2020;196:590-602. google scholar
- Auerswald G. Prophylaxis in rare coagulation disorders-factor X deficiency. Thromb Res 2006;118(SUPPL. 1):29-31. google scholar
Evaluation of Clinical Features, Laboratory Findings and Treatment of Patients with Rare Factor Deficiency: A Retrospective Single Center Experience
Abstract
Objective: Patients with a rare factor deficiency (RFD) may be asymptomatic or present with life-threatening bleeding. Studies have shown no direct relationship between factor activity level and bleeding severity, with difficulties being experienced in diagnosis and clinical follow-up. This study aims to contribute to Türkiye’s data by evaluating the clinical and laboratory findings of the patients diagnosed with RFD and examined in this study.
Materials and Methods: The study involves 116 patients with an RFD diagnosis who were examined between 2005-2020. The study analyzes the patients’ data retrospectively using patient files and the electronic registry system.
Results: The most common type of RFD is seen to be the factors VII (76%) and XI (8.6%) deficiencies. At the time of diagnosis, 50 (43.1%) patients were symptomatic, and 66 (56.9%) were asymptomatic. The most common complaints were epistaxis (n = 18 [15.5%]) and easy bruising (n = 8 [6.9%]). Five patients (three with factor VII and two with factor XIII deficiencies) were diagnosed with intracranial hemorrhaging (ICH). Of the patients, 12 (10.4%) had symptoms during the neonatal period. This study evaluated the coagulation systems of 97 patients suing thromboelastograms (TEGs), with 67 (69%) appearing normal and 30 (31%) showing symptoms compatible with RFD. When comparing the two groups, the TEGs were shown to be effective in determining bleeding tendencies, with Fisher’s exact test showing a p < 0.001. Upon considering bleeding severity and factor level, prophylactic treatments were initiated in eight patients (7%), three of whom had a factor XIII deficiency, three with a factor X deficiency, one with a factor VII deficiency, and one with afibrinogenemia.
Conclusion: Patients with RFD should be noted to be able to be asymptomatic. TEG can be used effectively as a method for determining RFD patients’ bleeding tendencies. Patients with signs of bleeding during the neonatal period can be monitored closely, and bleeding that may develop later can be prevented with early diagnosis.
Project Number
yok
References
- Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am 2021;35:1181-96. google scholar
- Menegatti M, Palla R. Clinical and laboratory diagnosis of rare coagulation disorders (RCDs). Thromb Res 2020;196:603-8. google scholar
- Palla R, Peyvandi F, Shapiro AD. Rare bleeding disorders: Diagnosis and treatment. Blood 2015;125:2052-61. google scholar
- Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B, et al. 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
- 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;26:145-51. 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;59:102728. google scholar
- Mahmood R, Mahmood A, Khan M, Ali S, Khan SA, Jaffar SR. Rare bleeding disorders: Spectrum of disease and clinical manifestations in the Pakistani population. Blood Res 2020;55:146-50. google scholar
- Farjami A, Haghpanah S, Arasteh P, Ardeshiri R, Tavoosi H, Zahedi Z, et al. Epidemiology of Hereditary Coagulation Bleeding Disorders: A 15-Year Experience From Southern Iran. Hosp Pract Res 2017;2:113-7. google scholar
- Sharma SK, Kumar S, Seth T, Mishra P, Agrawal N, Singh G, et al. Clinical profile of patients with rare inherited coagulation disorders: A retrospective analysis of 67 patients from Northern India. Mediterr J Hematol Infect Dis 2012;4(1):e2012057. google scholar
- Fişgin T, Balkan C, Celkan T, Kilinç Y, Türker M, Timur Ç, et al. Rare coagulation disorders: A retrospective analysis of 156 patients in Turkey. Turkish J Hematol 2012;29:48-54. google scholar
- Shapiro A. The use of prophylaxis in the treatment of rare bleeding disorders. Thromb Res 2020;196:590-602. google scholar
- Auerswald G. Prophylaxis in rare coagulation disorders-factor X deficiency. Thromb Res 2006;118(SUPPL. 1):29-31. google scholar
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Paediatrics |
| Journal Section | Research Articles |
| Authors | |
| Project Number | yok |
| Publication Date | June 30, 2023 |
| Published in Issue | Year 2023 |