Type IV Ehlers-Danlos syndrome with platelet delta-storage pool disease.
A case of type IV Ehlers-Danlos syndrome with a partial platelet delta-storage pool disease is reported. The diagnosis of Ehlers-Danlos was clinical. The platelet-dense granule deficiency was determined by ultrastructural platelet morphology. Dense bodies were decreased in number, and most showed loss or fragmentation of electron-dense material. Aggregation studies revealed a retarded response to ristocetin and arachidonic acid, which was corrected with desmopressin acetate-DDAVP.
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Departament d'Hematologia, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma, Barcelona, Spain.
Hernández
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A
Pujol
R M
RM
Urrutia
T
T
Pujol-Moix
N
N
D001791:Blood Platelet Disorders / Q000150:complications*; D002648:Child; D004535:Ehlers-Danlos Syndrome / Q000150:complications*; D005260:Female; D006801:Humans