Characteristics, complications, and sites of bleeding among infants and toddlers less than 2 years of age with VWD

Abstract

Data on infants and toddlers (ITs) with von Willebrand disease (VWD) are lacking. We used data collected in the US Hemophilia Treatment Center Network (USHTCN) to describe birth characteristics, bleeding episodes, and complications experienced by 105 patients with VWD who were <2 years of age. In 68% of the patients, the reason for diagnostic testing was a family history of a bleeding disorder. The mean age at diagnosis was 7 months, with little variation by sex. Patients with type 2 VWD were diagnosed earlier than those with types 1 or 3 (P = .04), and those with a family history were diagnosed ∼4 months earlier than those with none (P < .001). Among the patients who experienced a bleeding event (70%), oral mucosa was the most common site of the initial bleeding episode (32%), followed by circumcision-related (12%) and intracranial/extracranial bleeding (10%). Forty-one percent of the initial bleeding events occurred before 6 months of age, and 68% of them occurred before the age of 1 year. Approximately 5% of the cohort experienced an intracranial hemorrhage; however, none was associated with delivery at birth. Bleeding patterns and rates were similar by sex (P = .40) and VWD type (P = .10). Forty-seven percent were treated with plasma-derived von Willebrand factor VIII concentrates. The results of this study indicate that a high percentage of ITs diagnosed with VWD and receiving care within the multidisciplinary structure of the USHTCN have a family history of VWD. In addition, bleeding events such as circumcision-related, oropharyngeal, and intracranial or extracranial episodes are common and are leading indicators for treatment.

Genotype–Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study

“…The diagnosis of von Willebrand disease (VWD) in patients under two years old is challenging, leading to a scarcity of research on infants and toddlers with this condition [ 14 ]. As a result, data linking age at first bleeding with the prognosis of VWD are limited.…”

“…Dupervile et al ( 2021) conducted a study with 105 patients under the age of two diagnosed with VWD, finding that 70% of them experienced their first bleeding episode [14]. Additionally, Siboni et al (2016) [15] examined a cohort of 103 patients with extremely low levels of VWF:RCo (<6 IU dL −1 ).…”

Patients with von Willebrand disease in China: Results of an online survey

“…Strikingly, the type distribution of VWD patients in this study differs considerably from previous studies, particularly those in western countries. Studies carried out in western countries unanimously report that type 1 patients greatly outnumber type 3 8,10,17 . For example, in a large study of VWD, 2070 patients (76.3%) were type 1 and only 119 patients (4.4%) were type 3 9 .…”