Congenital thrombocytopenia in adults

Annette van Zweeden, Pieter Bot, Yves Smets, Wim Terpstra

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.

Translated title of the contributionCongenital thrombocytopenia in adults
Original languageDutch
Pages (from-to)A2634
JournalNederlands Tijdschrift voor Geneeskunde
Volume155
Publication statusPublished - 2011

Cite this

van Zweeden, Annette ; Bot, Pieter ; Smets, Yves ; Terpstra, Wim. / Congenitale trombocytopenie bij volwassenen. In: Nederlands Tijdschrift voor Geneeskunde. 2011 ; Vol. 155. pp. A2634.
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abstract = "Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.",
keywords = "Adult, Humans, Male, Middle Aged, Mutation, Prognosis, Thrombocytopenia/congenital, Wiskott-Aldrich Syndrome/diagnosis, Wiskott-Aldrich Syndrome Protein/genetics",
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van Zweeden, A, Bot, P, Smets, Y & Terpstra, W 2011, 'Congenitale trombocytopenie bij volwassenen' Nederlands Tijdschrift voor Geneeskunde, vol. 155, pp. A2634.

Congenitale trombocytopenie bij volwassenen. / van Zweeden, Annette; Bot, Pieter; Smets, Yves; Terpstra, Wim.

In: Nederlands Tijdschrift voor Geneeskunde, Vol. 155, 2011, p. A2634.

Research output: Contribution to journalArticleAcademicpeer-review

TY - JOUR

T1 - Congenitale trombocytopenie bij volwassenen

AU - van Zweeden, Annette

AU - Bot, Pieter

AU - Smets, Yves

AU - Terpstra, Wim

PY - 2011

Y1 - 2011

N2 - Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.

AB - Thrombocytopenia in adult patients is usually acquired. Important causes are medication, pregnancy, infections and auto-immune disorders. Here we present 2 patients, a 32-year-old and a 45-year-old man, in whom congenital thrombocytopenia was discovered in adulthood, caused by a mutation in the gene for Wiskott-Aldrich syndrome. This congenital thrombocytopenia appears in different forms. Indications for the disorder are chronic thrombocytopenia, a family history and additional clinical signs such as eczema and renal insufficiency. Measurement of the thrombocyte size is a helpful tool in the diagnosis. Recognition of congenital thrombocytopenia can have important clinical consequences.

KW - Adult

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Prognosis

KW - Thrombocytopenia/congenital

KW - Wiskott-Aldrich Syndrome/diagnosis

KW - Wiskott-Aldrich Syndrome Protein/genetics

M3 - Article

VL - 155

SP - A2634

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

SN - 0028-2162

ER -