PO Patel et al. J Pediatr 2021; 235; 220-225. Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation

Due to case series which have reported increased mucocutaneous bleeding and macrothrombocytopenia, the authors prospectively evaluated children (n=29) with 22q11 deletion syndrome (22q11DS) for bleeding disorders. Key findings:

• In total, 17 of 29 subjects had a positive bleeding score on ISTH-BAT (International Society on Thrombosis and Hemostasis Bleeding Assessment Tool) compared with 1 of 29 control patients (P < .0001).
• 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.

My take: While this bleeding was mainly mucocutaneous, I agree with the authors that children with 22q11DS should be screened with a validated bleeding assessment tool before surgical interventions.

Related blog posts:

• Clinical features of 22q11.2 Deletion Syndrome
• 22Q on Video | gutsandgrowth
• Immunoglobulin deficiencies with DiGeorge Syndrome …  This post lists a number of references and resources related to 22Q (aka. DiGeorge Syndrome or Velocardiac Facial Syndrome).