Genealogical insight: uncovering type 2N von Willebrand disease with homozygous R816W mutation in the VWF gene

Subtype 2N of von Willebrand disease is marked by a qualitative anomaly in von Willebrand factor (VWF), leading to diminished binding capacity with FVIII. Clinically, it mirrors the presentation of classic hemophilia A and follows an autosomal recessive inheritance pattern. A 26-year-old woman was under study for bleeding diathesis, presenting with abnormal uterine bleeding. Laboratory tests showed normal levels of Von Willebrand factor and low factor VIII levels, with no presence of factor VIII inhibitors. Clinical exome sequencing revealed a homozygous R816W mutation in the VWF gene, leading to the diagnosis of von Willebrand disease type 2N. Von Willebrand disease is linked to an autosomal recessive inheritance pattern.In this instance, a familial cluster was pinpointed, underscoring the relevance of genetic examinations in rare diseases.This was exemplified by the detection of the mutation through next-generation sequencing.