Quantitation of bleeding symptoms in children with von Willebrand disease: use of a standardized pediatric bleeding questionnaire

Abstract

Summary. Background: Excessive bruising and mucocutaneous bleeding are frequent presenting symptoms in childhood. A detailed bleeding history can distinguish children who may have an inherited bleeding disorder from those who are normal. There is a lack of standardization of such history taking in pediatric practise. Objectives: To assess the performance of a Pediatric Bleeding Questionnaire (PBQ), an adaptation of a standardized adult bleeding questionnaire and score that includes pediatric-specific bleeding symptoms, in a cohort of children with von Willebrand disease (VWD). Patients/Methods: Bleeding scores were determined by interview, for children with a previous diagnosis of VWD and a control group of unaffected siblings. Results: Bleeding scores were obtained for 100 children with VWD, median age 10.9 years (range, 0.8-17.8 years), and 21 unaffected siblings. Median bleeding score in children with VWD was 7.0 (range, 0-29) and in the control group was 0 (range, )1-2). Bleeding score varied within and between each VWD type: definite type 1, n = 40, median, 9.0 (range, 2-18); possible type 1, n = 38, median, 2.0 (0-15); type 2, n = 6, median, 14.0 (3-17); and type 3, n = 16, median, 12.0 (4-29). Bleeding scores in affected children correlated with age (SpearmanÕs correlation coefficient, 0.35; P = 0.0004). The most frequent clinically significant bleeding symptoms were surgical bleeding, bleeding after tooth extraction and menorrhagia. Post-circumcision bleeding, cephalohematoma, macroscopic hematuria and umbilical stump bleeding were clinically significant in 32% (of circumcised males), 4%, 4% and 3% of children, respectively. Conclusions: The PBQ provides a standardized quantitation of bleeding severity in children with VWD.

Expanded phenotype–genotype correlations in a pediatric population with type 1 von Willebrand disease

“…For example, it could be inferred that a normal PP/Ag ratio in association with a significant reduction in absolute VWFpp level might be an indication of defective VWF synthesis or release. In our cohort, this combination was observed in association with both nonsense mutations, a small insertion mutation, a splicing mutation, and several missense mutations, including all mutations identified within the propeptide domains (exons [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17]. Furthermore, the differentiation between type 3 and severe type 1 VWD is not always straightforward, as standard VWD assays lack precision at very low levels of VWF:Ag.…”

“…A standardized bleeding questionnaire (Pediatric Bleeding Questionnaire), recently validated for use in a pediatric population [12,13], was administered to all participants by a member of the research team. In addition to basic demographic data, family history, age at menarche (female subjects), and current medications, the questionnaire systematically assessed a range of bleeding symptoms according to frequency and severity.…”

How I treat type 2 variant forms of von Willebrand disease

“…An abnormal BS, usually .3 (or .5 in females), has been shown to be associated with types 1, 2, and 3 VWD and presence of platelet function disorders. [26][27][28][29][30] We routinely screen all patients with a suggestive bleeding history with at least one VWF functional test. A reduction of at least one VWF functional test (below 30 IU/dL) discrepant from VWF:Ag is highly suggestive of type 2 VWD.…”

Preoperative hemostatic assessment: a new and simple bleeding questionnaire

“…15 Other symptoms, such as epistaxis, prolonged bleeding after minor wounds, bleeding gums, gastrointestinal bleeding, hemarthrosis, muscle hematoma, and intracranial hematoma, are less discriminating. 16,19,24 Heavy menstruation is a common and non-specific complaint among young patients, reported by up to 35% of women. 25 Nevertheless, inherited bleeding disorders (mostly vWD and platelet dysfunctions) are frequently diagnosed in females when they are referred for hemostasis investigation by a gynecologist for investigation of menorrhagia.…”

“…8 Many questionnaires have been proposed, [9][10][11][12][13][14] but none of these have been validated as a predictor of the risk of perioperative bleeding. There are well-developed and validated questionnaires and bleeding scores [15][16][17] for identifying patients, even children, [18][19][20] who are suspected of von Willebrand disease (vWD) and require laboratory evaluation. These bleeding assessment tools may also be used for the evaluation of patients with suspected mild bleeding disorders.…”