Case Report: Hidden hemorrhagic burdens in consanguineous populations: Primary care gaps illustrated by a near-fatal pediatric case

Background Type 3 von Willebrand disease (VWD) is a severe, rare autosomal recessive bleeding disorder. Diagnosing pediatric patients with VWD can be challenging, particularly when extreme physiological adaptations mask chronic mucosal blood loss. Furthermore, delayed recognition of such inherited bleeding disorders often reflects gaps in primary care screening and genetic counseling, especially in consanguineous populations. Case presentation In this study, we report on a 3-year-old girl from a consanguineous family presenting with critical microcytic anemia (hemoglobin concentration: 14 g/L) due to chronic, unrecognized epistaxis. Her family history included the fatal hemorrhagic deaths of two siblings. Investigations revealed the International Society on Thrombosis and Haemostasis-bleeding assessment tool (ISTH-BAT) score of 6 and undetectable von Willebrand factor (VWF) antigen levels and activity. Whole-genome sequencing identified a novel homozygous VWF missense variant (c.7563G > C, p. Trp2521Cys). Following supportive transfusion management, the patient achieved clinical stability, although prolonged follow-up revealed ongoing, physiologically compensated subclinical mucosal bleeding. Conclusion This case expands the VWF mutational spectrum and highlights how a robust physiological adaptation can obscure life-threatening anemia in type 3 VWD. The recurrence of severe hemorrhage within this pedigree underscores the necessity of early diagnostic intervention. Integrating standardized bleeding assessment tools (e.g., ISTH-BAT) into routine pediatric care and expanding carrier screening in high-risk consanguineous populations are essential strategies to prevent diagnostic delays and reduce familial morbidity.