PLATELET DISFUNCTION IN NOONAN AND 22Q11.2 DELETION SYNDROMES IN CHILDHOOD
Author(s): ,
ANNA RUIZ
Affiliations:
Hematology,Hospital Sant Joan de Déu,Barcelona,Spain
,
IGNACIO ISOLA
Affiliations:
Hematology laboratory,Hospital Sant Joan de Deu,Barcelona,Spain
,
SUSANNA GASSIOT
Affiliations:
Hematology laboratory,Hospital Sant Joan de Déu,Barcelona,Spain
,
ALBERT CATALÀ
Affiliations:
Hematology,Hospital Sant Joan de Déu,Barcelona,Spain
,
MARIBEL DÍAZ-RICART
Affiliations:
Department of pathology,Hospital Clinic de Barcelona,Barcelona,Spain
,
ANTONIO FEDERICO MARTÍNEZ-MONSENY
Affiliations:
Genetics and molecular medicine,Hospital Sant Joan de Déu,Barcelona,Spain
,
MERCEDES SERRANO
Affiliations:
Genetics and molecular medicine,Hospital Sant Joan de Déu,Barcelona,Spain
RUBÉN BERRUECO
Affiliations:
Hematology,Hospital Sant Joan de Déu,Barcelona,Spain
EHA Library. CATALA A. Jun 15, 2019; 267094; PS1477
Albert CATALA
Albert CATALA
Contributions
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Abstract

Abstract: PS1477

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
An underlying thrombocytopathy seems to be the responsible for hemorrhagic symptoms in patients diagnosed with 22q11.2 deletion syndrome (22q11DS) and Noonan syndromes (NS). Whereas in 22q11DS it is explained by a defect in the membrane glycoprotein complex Ib-V-IX, the cause of thrombocytopathy in NS remains unclear.

Aims
To study the incidence of thrombocytopathy in pediatric patients diagnosed with 22q11DS or NS assessing the utility of ISTH-BAT questionnaire and laboratory techniques in this regard.

Methods
Prospective study between March and December 2018 in children (2 to 18 year-old) diagnosed with 22q11DS or NS. Hemorrhagic symptoms, total cell blood count, platelet indices, closure time and platelet aggregation were evaluated in all patients. Membrane glycoprotein expression was only performed in 22q11DS patients.

Results
Among NS patients (n=22), near 80% had an aggregation defect with adenosine diphosphate (ADP) and epinephrine without thrombocytopenia.  A significant correlation (p<0.05) between closure times and aggregation with arachidonic acid, epinephrine and ADP was found. This correlation was more evident in those patients with hemorrhagic symptoms.

Five out 29 (17%) patients diagnosed with 22q11DS had thrombocytopenia. Impairment in ristocetin-induced platelet aggregation was found. This defect was correlated with prolonged closure times. Moreover, a significant correlation between thrombocytopenia, closure times and hemorrhagic symptoms was demonstrated.

Conclusion
This study shows in a cohort of patients with NS and 22q11DS a significant impairment of platelet aggregation which correlates with hemorrhagic symptoms and closure times. Thus, closures times might be useful as screening test to evaluate the bleeding risk in this group of patients.

Session topic: 32. Platelets disorders

Keyword(s): Aggregation, Childhood, Pediatric

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