Alan Nurden: The Problem of Gastrointestinal Bleeding in Glanzmann Thrombasthenia
Alan Nurden, Emeritus Research Director at CNRS, Co-Founder of the French National Reference Centre for Inherited Platelet Disorders (CRPP), shared a post on LinkedIn about a recent article by Feras Al-Fararjeh et al, published in Frontiers in Medicine:
“This short report highlights the problem of gastrointestinal bleeding (GI) in patients with Glanzmann thrombasthenia in Jordan.
Recently I commented about GI bleeding in GT in response to a post about its severity in patients with von Willebrand disease.
This current report underlines my case.
Six subjects with GT were described with a range of symptoms that gave rise to GI bleeding with different causes.
Four of the cases were genotyped to variants of the ITGB3 gene that led to a severe loss of the alphaIIbbeta3 integrin responsible for platelet aggregation and the GT phenotype.
Three of them had a previously characterized homozygous p.Cys575Arg mutation and the fourth a homozygous single nucleotide deletion; the other two cases were not genotyped.
It is important to know if the alphavbeta3 integrin, present in endothelial cells, was also deleted. But from our past work on GT in Bordeaux and the literature, GI bleeding in GT can also be severe in patients with genetic variants of ITGA2B.
So, what is the link between the absence or nonfunctioning of VWF in VWD and the alphaIIbbeta3 integrin in GT patients?
How do both lead to GI bleeding in a subpopulation of patients with both rare diseases.
This needs to be explored.”
Title: Glanzmann thrombasthenia presenting with upper gastrointestinal bleeding: a case series and review of the literature
Authors: Feras Al-Fararjeh, Alaa Alshorman, Salem Hyari, Manar Abu Awwad, Hussam I. A. Alzeerelhouseini, Renad Alawamleh, Eman Abdelghani, Sally Al-Aqrabwi, Abdalla Awidi
Read the Full Article on Frontiers in Medicine
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