Kalıtsal faktör VII eksikliği olanların klinik sorunları ve uygulanan cerrahi girişimler

Amaç: Faktör VII eksikliği otozomal çekinik kalıtılan ve nispeten sıkgörülen (1/500 000) kalıtsal pıhtılaşma bozukluklarındandır. Klinik olarak heterojendir, asemptomatik seyredebildiği gibi yaşamsal kanamalara da yol açabilmektedir. Nitekim FVII aktivitesi ile klinik bulgularınarasında korelasyon bulunmamaktadır. Tedavisinde, plazma kaynaklıve rekombinan FVII konsantreleri kullanılırsa da, bunlara erişimin olmadığı ülkelerde düşük miktarda FVII içermelerine rağmen taze donmuş plazma ve protrombin kompleks konsantreleri de kullanılmaktadır. Bu çalışmada, kliniğimizde izlenen FVII eksikliği tanısı almışhastaların klinik özellikleri, tedavileri ve uygulanan cerrahi girişimlersunulmaktadır.Gereç ve Yöntemler: İstanbul Üniversitesi Onkoloji Enstitüsü, ÇocukHematolojisi ve Onkolojisi Bilim Dalı’nda Temmuz 1997- Temmuz 2018tarihleri arasında FVII eksikliği tanısı alan hastalar çalışmaya alındı.Hastaların demografik özellikleri, başvuru yakınmaları, PT, aPTT veFVII değerleri, kanama tipi, tedavileri ve uygulanan cerrahi girişimlerkaydedildi. Hastalarda görülen kanamalar ağırlıklarına göre asemptomatik, minör ve majör olarak sınıflandırıldı.Bulgular: Ortalama tanı yaşları 9,64±9,63 olan 7’si kız 11’i erkek toplam18 hasta çalışmaya alındı. Hastaların ortalama izlem süresi 78,06±54,4ay idi. Kanamalar klinik olarak sınıflandırıldığında; sekiz hastada(%44.4) herhangi bir kanama gözlenmezken, asemptomatik seyreden sekiz hastanın üçünde FVII düzeyi

Clinical problems and surgical interventions in inherited factor VII deficiency

Aim: Factor VII deficiency is one of the hereditary coagulation disorders that has autosomal reccessive inheritance and is observed relatively frequently (1/500 000). It is clinically heterogeneous, and may be asymptomatic or lead to life-threatening hemorrhage. Thus, there is no correlation between FVII activity and clinical findings. Plasma-derived and recombinant FVII concentrates are currently used for treatment. In countries where access to these products is lacking, fresh frozen plasma and prothrombin complex concentrates are also used, though they contain low amounts of factor FVII. In this study, we present the clinical properties, treatments, and surgical interventions used in patients followed up in our clinic with a diagnosis of factor FVII deficiency. Material and Methods: Patients who were diagnosed as FVII deficiency in Istanbul University Oncology Institute, Division of Pediatric Hematology and Oncology between July 1997 and July 2018, were included in the study. The patients’ demographic characteristics, symptoms at presentation, PT, aPTT, and FVII values, types of hemorrhage, and treatments and surgical interventions used, were recorded. The hemorrhages observed in the patients were classified by severity as asymptomatic, minor, and major. Results: A total of 18 patients (7 girls and 11 boys) with a mean age of 9.64±9.63 years were included in the study. The mean follow-up time was found as 78.06±54.4 months. When the hemorrhages were classified clinically, no hemorrhage was observed in eight patients (44.4%). The factor FVII level was found as

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