(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds.
Objective In countries with low factor concentrate consumption, disabling joint disease remains the major morbidity in patients with haemophilia. The objective of the present analysis is to express the trend and profile of invasive orthopaedic interventions in our country with low usage of factor replacement, lacking the prophylaxis program until recent years. Patients and Methods This retrospective descriptive study was conducted in our university centre in Timisoara with long-lasting experience in haemophilia care, which succeeded in developing an exceptionally valuable genuine comprehensive inter-institutional cooperation. This study refers to 115 invasive interventions performed on 97 patients: 83 with haemophilia A, 10 with haemophilia B and 4 with von Willebrand disease in the period of 2001 to 2017; 17 of them had inhibitors, 5 developing inhibitors after the intervention. Results and Discussion The cohort of patients consisted mostly of young adults, aged between 7 and 49 years. The vast majority of them, 91.3% of the patients, had the burden of severe chronic arthropathy. This was the reason for 95 interventions, with programmed solution. In 20 cases the cause of invasive interventions was emergency. Knee and hip replacement represented 28% of the major interventions. The complications we encountered were excessive bleeding (12.2%), infection (13%) and inhibitor development (4.3%). Conclusion Surgery is a demanding intervention in patients with haemophilia, which unfortunately cannot be ignored in our country. Hopefully, the improved availability and accessibility to replacement therapy will eliminate the necessity of these interventions, optimizing the outcomes for the next generations.
Hemophilia, a congenital X linked disease, has the serious burden of bleeding, requiring life-long replacement with coagulation factors (CF). In the present day, there is a continuously improving treatment for this condition. Objective: Our observational, cross-sectional study aims at finding out whether a prophylactic replacement with CF is affordable from the point of view of its cost-effectiveness in our country. Material and methods: A cohort of 122 persons with hemophilia were included in this patient-reported outcome survey, and they answered a questionnaire consisting of 56 items, focused on 4 domains—socio-demographic, medical, quality of health/life and cost/cost-effectiveness. Results and discussion: The markers for quality of health/life were correlated with the direct and indirect costs of care, comparing subgroup 1 of patients with prophylactic vs. subgroup 2 with on-demand replacement. Based on the incremental quality adjusted life years and the incremental costs, we calculated the incremental cost-effectiveness ratio (ICER) proving that prophylaxis is more cost-effective than on-demand replacement on a long time basis. Conclusions: The ICER is a threshold recommending the reimbursement of costs for a life-long prophylactic replacement in our country.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.