Inherited Rare Factor Deficiencies: Single-centre Experience

Objective: Bleeding is one of the most important problems in humans. Absence, deficiency or dysfunctions of protein factors in the coagulation system can cause prolonged bleeding, morbidity or mortality. Although factor VIII, factor IX and von Willebrand factor deficiencies are the most common, deficiencies in all other factors exist, called rare factor deficiencies. This study aimed to present the clinical presentations, laboratory findings, treatments, and surgical interventions in patients with rare factor deficiencies other than factor VII followed up in our clinic. Materials and Methods: Patients who were diagnosed with rare factor deficiency other than factor VII in the department of pediatric hematology and oncology between July 1997 and June 2020 were included in this study. Patients’ demographic characteristics, clinical presentations, family history, prothrombin time, activated partial thromboplastin time and factor levels, treatments and surgical interventions were recorded retrospectively from patients’ files. Results: Nineteen patients were included in the study, of which 7 (37%) had factor X deficiency, 5 (25%) had factor XI, 3 (16%) had factor V+VIII, 2 (10%) had factor V and 1 (5%) had factor I and XIII deficiencies. Parents of 12 patients had consanguinity marriages. All patients with factor X deficiency had bleeding episodes, and three of them were under prophylaxis with prothrombin complex concentrate. Other patients were under on-demand treatment. In total, 19 surgical interventions (11 minor; 8 major) were performed. Conclusion: Rare bleeding disorders are very uncommon and heterogeneous, with variable associations between coagulation factor activity and bleeding phenotype. A multidisciplinary and expertise team (haematologists, nurses, gynaecologists, obstetricians, orthopaedist, etc.) is necessary for the treatment and regular followup of patients with rare bleeding disorders.

Kalıtsal Nadir Faktör Eksiklikleri: Tek Merkez Deneyimi

Amaç: Kanama insan hayatındaki en önemli sorunlardan bir tanesidir. Koagülasyon sisteminde yer alan faktörlerin eksikliği, yokluğu veya fonksiyon bozukluğu uzamış kanama, morbidite ve mortaliteye sebep olmaktadır. Faktör eksikliklerinin büyük çoğunluğu faktör VIII, faktör IX ve von Willebrand faktör eksikliği olup diğer faktör eksiklikleri nadir faktör eksiklikleri olarak adlandırılır. Bu çalışmada, nadir faktör eksikliği olan hastaların klinik özellikleri, laboratuvar bulguları, tedavileri ve uygulanan cerrahi girişimler sunulmuştur. Gereç ve Yöntemler: Çocuk hematolojisi ve onkolojisi bilim dalında Temmuz 1997 ve Haziran 2020 tarihleri arasında takip edilen faktör VII eksikliği dışında nadir faktör eksikliği tanısı alan hastalar çalışmaya dahil edildi. Hastaların demografik özellikleri, klinik bulguları, aile hikayeleri, protrombin zamanı/aktive parsiyel tromboplastin zamanı ve faktör düzeyleri ile tedavileri ve cerrahi girişimler hasta dosyalarından retrospektif olarak tarandı. Bulgular: On dokuz hasta çalışmaya dahil edildi. Yedi hasta (%37) faktör X, 5’i (%25) faktör XI, 3’ü (%16) faktör V + faktör VIII, 2’si (%10) faktör V ve 1’er (%5) hasta faktör I ile faktör XIII eksikliği tanısı almıştı. On iki hastanın ebeveynlerinde akraba evliliği vardı. Faktör X eksikliği olan tüm hastaların kanama hikayesi olup 3 hasta protrombin kompleks konsantresi ile profilaksi tedavisi almakta ve diğer hastalar kanadıkça tedavi almaktaydı. Toplam 19 cerrahi girişim uygulanmış olup bunların 11’i minör, 8’i majör cerrahi girişimdi. Sonuç: Nadir faktör eksiklikleri çok nadir hastalıklar grubundan olup değişik tablolarda karşımıza çıkmaktadırlar. Mevcut olan faktör düzeyi ve klinik arasında her zaman bir korelasyon bulunmamaktadır. Bu nedenle nadir faktör eksikliği olan hastalar multidisipliner (hematoloji, hemşire, jinekoloji, ortopedi...) ve deneyimli ekiplerin olduğu merkezlerde düzenli takip ve tedavi edilmelidir.

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