Type IV Ehlers-Danlos syndrome with platelet δ-storage pool disease

I. Español; A. Hernández; R. M. Pujol; T. Urrutia; N. Pujol-Moix

doi:https://doi.org/10.1007/s002770050410

Type IV Ehlers-Danlos syndrome with platelet δ-storage pool disease

I. Español, A. Hernández, R. M. Pujol, T. Urrutia, N. Pujol-Moix

Department of Medicine

Research output: Contribution to journal › Article › Research › peer-review

11 Citations (Scopus)

Abstract

A case of type IV Ehlers-Danlos syndrome with a partial platelet δ-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.

Original language	English
Pages (from-to)	47-50
Journal	Annals of Hematology
Volume	77
DOIs	https://doi.org/10.1007/s002770050410
Publication status	Published - 1 Jul 1998

Keywords

Dense granule deficiency
Ehlers-Danlos syndrome
δ-storage pool disease

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abstract = "A case of type IV Ehlers-Danlos syndrome with a partial platelet δ-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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AU - Español, I.

AU - Hernández, A.

AU - Pujol, R. M.

AU - Urrutia, T.

AU - Pujol-Moix, N.

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N2 - A case of type IV Ehlers-Danlos syndrome with a partial platelet δ-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.

AB - A case of type IV Ehlers-Danlos syndrome with a partial platelet δ-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.

KW - Dense granule deficiency

KW - Ehlers-Danlos syndrome

KW - δ-storage pool disease

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DO - https://doi.org/10.1007/s002770050410

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