Title : Bleeding in children with inherited factor deficiency: Our single center experience in Jordan
Abstract:
Diagnosis and treatment of inherited bleeding disorders in children secondary to deficiency in single or multiple coagulation factor is of great importance and represent a challenging issue in developing country like Jordan. The prevalence of bleeding disorders varies in different countries and their ethnic groups, and still we have a shortage in documentation of these disorders related to diagnostic labs, variability of clinical presentation, family history of similar bleeding tendency with some denial and ignorance about the seriousness and importance of early detection to prevent major bleeding conditions. Inherited factor deficiency (IFD) refer to Bleeding disorders occur when one or more factor are missing or decreased from the blood, preventing the normal blood clotting formation. Inherited means that the person was born with the deficiency and will have it for the rest of his or her life. They may also pass it onto their offspring’s. The result of 72 patients with inherited factor deficiency who were diagnosed and followed at Queen Rania AL-Abdullah children hospital in the Pediatric Hematology department in the period between 2015 and 2021, were retrospectively studied in regard to the frequency, diagnostic test, presentation and management plan. In these (72) patients, majority of patients 36 (50%) were hemophilia A, 5 (6.9%) were hemophilia B, 6 (8.4%) were von Willebrand disease (vWD), and the remaining 25 (34.7%) were rare bleeding disorders. The median age of the patients at the time of diagnosis was 3.5 years. Seventeen patients (23.6%) present with major bleeding, 45 (62.5%) with minor bleeding and 10 patients (13.9%) were asymptomatic, 35 (48.6%) of them diagnosed by similar family history,39 (54.2%) are from consanguineous parents, and 23 ( 31.9% ) incidentally found in the preoperative laboratory studies.55(76.4%) of patients are males and 17(23.6%) of them are females. Treatment principles for bleeding or pre-operative preparation in these clotting factor deficiency are based on what is deficient and replacement of it to achieve the hemostatic level required to form clot and maintain it stable, we have either specific factor concentrate like factor VIII in hemophilia A, Prothrombin>complex>concentrate (PCC) or fresh frozen plasma (FFP ) and cryoprecipitate (CRYO).Patients with hemophilia A or B, factor 7 deficiency given the factor concentrate, patients with factor X deficiency and vitamin k dependent factor deficiency given the PCC complex, patients with VWD we will have the factor concentrate in our department soon in the coming period, and finally the remaining rare factor deficiency like factor XIII, factor V and fibrinogen we use FFP or CRYO. In this study, we are going to present the prevalence, diagnostic approach, follow-up, treatment modality of various bleeding history, preoperative preparation and the challenges we face.
Conclusion: The variety in clinical presentation of IFD lead to significant diagnostic and therapeutic Challenges, sharing our experience in treating patients with inherited factor deficiency will help to improve diagnosis and management of these bleeding disorders especially in countries with limited resources and facilities.
