Surgical interventions in childhood rare factor deficiencies

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.

Rare Factor Deficiencies: A Retrospective, Single-center Cohort Study

“…Generally, the most typical symptoms of all RCDs include mucosal tract bleedings and excessive bleeding during invasive procedures, delivery in women, and circumcision in boys. In addtion, other life-and limb-endangering symptoms such as central nervous system (CNS) bleeding and hemarthroses are mostly present only in afibrinogenemia and FX and FXIII deficiencies (3). This clinical heterogeneity, combined with the smaller number of patients affected with RCDs compared with hemophilias, led to a lack of studies that aim to understand how to recognize and diagnose a RCD.…”

Acquired deficiency of coagulation factor VII

“…Hereditary coagulation factor deficiencies, except hemophilia, are autosomal recessive hereditary diseases, with incidences ranging from one case in 500,000 to one case in two million people. 2 Thus, they are considered rare coagulopathies. The suspected diagnosis is confirmed using prolonged PT and/or APTT, thereby suggesting the need for further evaluations.…”

“…Among the rare congenital factor deficiencies, FVII deficiency is the most common. 2 The clinical manifestations of this condition range from asymptomatic to severe hemorrhagic disorders, although the most common bleeding sites are the skin and mucosae. 3 …”