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Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia

Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia Glanzmann thrombasthenia (GT) is a rare inherited autosomal recessive disorder of platelet aggregation due to aberrant or absent glycoprotein IIb/IIIa on the platelet surface with impaired binding of fibrinogen, which results in a severe mucocutaneous bleeding phenotype. Our patient successfully underwent a major surgical procedure with a high bleeding risk despite being refractory or intolerant to many of the available supportive measures. This case is the first published report of successful major surgery in a patient with GT.Our patient is a 73-year-old lady with GT. She has a severe haemorrhagic phenotype, initially presenting in childhood with epistaxis and gum bleeding. She recalled fatal bleeding in her siblings in childhood and there was a history of consanguinity in her family. She was diagnosed with von Willebrand disease in childhood but further investigation in 1970 revised the diagnosis to GT, subsequently confirmed by flow cytometry. Genetic studies demonstrated homozygosity for the T1781C mutation of the IGTA2B gene encoding glycoprotein IIb.Bleeding episodes were remarkable, such as an oral haemorrhage after dental scaling in 1987 requiring treatment with 14 adult therapeutic doses (ATD) of platelets and 9 units of red cell concentrate. Thereafter, routine dental work was managed with antifibrinolytic medications and both http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Haematologica Karger

Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia

Buckley, Frances; Norris, Alan; Kerr, Ron
Acta Haematologica , Volume 139 (4): 4 – Aug 1, 2018
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References (16)

Publisher
Karger
Copyright
© 2018 S. Karger AG, Basel
ISSN
0001-5792
eISSN
1421-9662
DOI
10.1159/000489114
Publisher site
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Abstract

Glanzmann thrombasthenia (GT) is a rare inherited autosomal recessive disorder of platelet aggregation due to aberrant or absent glycoprotein IIb/IIIa on the platelet surface with impaired binding of fibrinogen, which results in a severe mucocutaneous bleeding phenotype. Our patient successfully underwent a major surgical procedure with a high bleeding risk despite being refractory or intolerant to many of the available supportive measures. This case is the first published report of successful major surgery in a patient with GT.Our patient is a 73-year-old lady with GT. She has a severe haemorrhagic phenotype, initially presenting in childhood with epistaxis and gum bleeding. She recalled fatal bleeding in her siblings in childhood and there was a history of consanguinity in her family. She was diagnosed with von Willebrand disease in childhood but further investigation in 1970 revised the diagnosis to GT, subsequently confirmed by flow cytometry. Genetic studies demonstrated homozygosity for the T1781C mutation of the IGTA2B gene encoding glycoprotein IIb.Bleeding episodes were remarkable, such as an oral haemorrhage after dental scaling in 1987 requiring treatment with 14 adult therapeutic doses (ATD) of platelets and 9 units of red cell concentrate. Thereafter, routine dental work was managed with antifibrinolytic medications and both

Journal

Acta Haematologica – Karger

Published: Aug 1, 2018

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