title: Surgical interventions in childhood rare factor deficiencies: a single-center experience from Turkey.
abstract: Congenital rare factor deficiencies may present in infancy by life-threatening bleedings or may not show any symptoms until adulthood. It is reported more commonly in countries having consanguineous marriages. Data regarding surgical interventions of rare congenital factor deficiencies are based on case reports and records of guidelines. There are no well documented and separately prepared directories related to pre-surgical and prophylactic approaches of surgical interventions of these deficiencies. Our retrospective study consisted of 171 rare factor deficiencies that were followed up in our clinic, and of whom 61 had 88 surgical interventions between 1990 and 2012. Of these patients, 45 were having factor VII deficiency, and factor V, X, XI, XIII and fibrinogen deficiencies were present in five, four, three, two and two patients, respectively. In 23 patients, factor coagulant activities were under 5% (37.7%), in 15 it was between 5 and 30% (24.6%), and in 23 between 30 and 50% (37.7%). Twenty-eight were symptomatic and 33 were asymptomatic. Information of 51 (83.6%) male and 10 (16.4%) female patients with an age range of 5-25 years (13 ± 5.27), whose age at presentation ranged between 3 weeks and 18 years (7 ± 4.66), were retrieved from patient records and from the records contained in the data-processing environment introduced in 2005. The rate of familial consanguinity was 49.2%. Of the surgical interventions, 24 (27.3%) were major, 24 (27.3%) were minor and 40 (45.4%) were circumcision. We used fresh frozen plasma in 32, recombinant factor (rF)VIIa in 20, prothrombin complex concentrate in five and fibrinogen in three patients during surgical interventions. In 18 patients, antifibrinolytic agents were also used. In 27 patients, surgical interventions were applied without any replacement therapy. No additional doses were required after surgical prophylaxis doses. Thrombotic events were not observed. Antibody occurrence was not detected in these patients. In our study, we evaluated preparation for surgical procedures, factor replacement therapy before surgical intervention and postoperative follow-up in patients with rare coagulation factor deficiency.
authors.affiliation: aKanuni Sultan Süleyman Education and Research Hospital, Pediatric Hematology and Oncology Clinic bKanuni Sultan Süleyman Education and Research Hospital, Pediatric Surgery Clinic cIstanbul University, Cerrahpasa Medical School, Internal Medicine Department, Istanbul, Turkey.
authors.forename: Zafer
authors.initials: Z
authors.lastname: Salcioglu
authors.forename: Deniz
authors.initials: D
authors.lastname: Tugcu
authors.forename: Arzu
authors.initials: A
authors.lastname: Akcay
authors.forename: Hulya Saylan
authors.initials: HS
authors.lastname: Sen
authors.forename: Gonul
authors.initials: G
authors.lastname: Aydogan
authors.forename: Ferhan
authors.initials: F
authors.lastname: Akici
authors.forename: Metin
authors.initials: M
authors.lastname: Demirkaya
authors.forename: Nuray Aktay
authors.initials: NA
authors.lastname: Ayaz
authors.forename: Serdar
authors.initials: S
authors.lastname: Sander
authors.forename: Gulay Aydn
authors.initials: GA
authors.lastname: Tireli
authors.forename: Zafer
authors.initials: Z
authors.lastname: Baslar
mesh_terms: D000293:Adolescent; D000328:Adult; D000933:Antifibrinolytic Agents / Q000627:therapeutic use; D058070:Asymptomatic Diseases; D001779:Blood Coagulation Factors / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D020147:Coagulation Protein Disorders / Q000097:blood* / Q000188:drug therapy / Q000601:surgery*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D011300:Preoperative Care; D012189:Retrospective Studies; D014421:Turkey
chemical_list: D000933:Antifibrinolytic Agents; D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates