Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome—A Cross-Sectional Investigation - 22/07/21
Abstract |
Objectives |
To prospectively quantify bleeding severity and elaborate hemorrhagic symptoms in children with 22q11.2 deletion syndrome (22q11DS) using 2 validated bleeding assessment tools (BATs), namely the Pediatric Bleeding Questionnaire and the International Society on Thrombosis and Hemostasis BAT (ISTH-BAT). We also sought to compare subjects’ bleeding scores to unaffected first-degree family members.
Study design |
Children with 22q11DS and unaffected first-degree family members were recruited for the study. Two validated BATs were administered by a pediatric hematologist. Additional clinical and laboratory data were abstracted from patient medical records. Standard descriptive and nonparametric statistical methods were used.
Results |
In total, 29 eligible subjects and controls were assessed. Median age (range) of subjects and controls was 8 (5-17) years and 38 (9-56) years, respectively. In total, 17 of 29 subjects had a positive bleeding score on ISTH-BAT compared with 1 of 29 control patients (P < .0001). Median ISTH-BAT score in subjects was 3 (0-12), compared with 2 (0-6) in control patients (P = .022). Median Pediatric Bleeding Questionnaire score in subjects was 2 (−1 to 12). The most frequent bleeding symptoms reported in subjects with 22q11DS were epistaxis (69%) and bruising (52%). Eighteen subjects had been surgically challenged, and 6 were noted to have increased perioperative hemorrhage.
Conclusions |
Children with 22q11DS have increased bleeding scores compared with their first-degree unaffected relatives. The majority of the bleeding symptoms described were mucocutaneous.
Le texte complet de cet article est disponible en PDF.Abbreviations : 22q11DS, AVWS, BAT, BSS, CD, CNS, ISTH-BAT, MPV, PBQ, PFA-100, VWD, VWF
Plan
The authors declare no conflicts of interest. |
Vol 235
P. 220-225 - août 2021 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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