An Unrecognized Case of Glanzmann Thrombasthenia Associated With Gastrointestinal Bleeding

Glanzmann thrombasthenia (GT) is a rare autosomal-recessive platelet disorder caused by deficiency or dysfunction of glycoprotein IIb/IIIa, resulting in defective aggregation and mucocutaneous bleeding. We report a 22-year-old Egyptian man presenting with gastrointestinal bleeding, severe anemia, and lifelong unexplained bleeding. Endoscopy revealed edematous gastropathy with postbiopsy bleeding exacerbation. Common coagulopathies were excluded and platelet aggregation tests showed absent responses to adenosine diphosphate, collagen, and arachidonic acid, confirming GT by flow cytometry. He was successfully treated with recombinant activated factor VII and tranexamic acid. This case underscores the importance of considering GT in patients with unexplained mucocutaneous bleeding and normal coagulation.

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Publication Details

Journal
Annals of Internal Medicine Clinical Cases
Published
2026-04-01
DOI
https://doi.org/10.7326/aimcc.2025.1230
Primary Topic
Gastrointestinal Bleeding Diagnosis and Treatment
Type
article
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article

An Unrecognized Case of Glanzmann Thrombasthenia Associated With Gastrointestinal Bleeding

R Melchio, Corrado Magnino, Luigi Fenoglio, Fangju Mao et al.
Annals of Internal Medicine Clinical Cases
Gastrointestinal Bleeding Diagnosis and Treatment
article

An Unrecognized Case of Glanzmann Thrombasthenia Associated With Gastrointestinal Bleeding

R Melchio, Corrado Magnino, Luigi Fenoglio, Fangju Mao, Teresa Morgillo, Christian Bracco, Irene Ruocco
article en

Abstract

Glanzmann thrombasthenia (GT) is a rare autosomal-recessive platelet disorder caused by deficiency or dysfunction of glycoprotein IIb/IIIa, resulting in defective aggregation and mucocutaneous bleeding. We report a 22-year-old Egyptian man presenting with gastrointestinal bleeding, severe anemia, and lifelong unexplained bleeding. Endoscopy revealed edematous gastropathy with postbiopsy bleeding exacerbation. Common coagulopathies were excluded and platelet aggregation tests showed absent responses to adenosine diphosphate, collagen, and arachidonic acid, confirming GT by flow cytometry. He was successfully treated with recombinant activated factor VII and tranexamic acid. This case underscores the importance of considering GT in patients with unexplained mucocutaneous bleeding and normal coagulation.

Annals of Internal Medicine Clinical CasesVol. 5(4)
Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo (IT), Department of Public Health (US), University of Turin (IT)
Zero hunger
Openalex Percentile: Top 46%
Gastrointestinal Bleeding Diagnosis and Treatment
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