Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia
Patients with Glanzmann thrombasthenia fail to form large platelet thrombi due to mutations that affect the biosynthesis and/or function of the αIIbβ3 integrin. The result is a moderate to severe bleeding syndrome. We now report unusual vascular behaviour in a 55-year-old woman with classic type I d...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2012/156290 |
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| author | Alan Nurden Patrick Mercié Pascal Zely Paquita Nurden |
| author_facet | Alan Nurden Patrick Mercié Pascal Zely Paquita Nurden |
| author_sort | Alan Nurden |
| collection | DOAJ |
| description | Patients with Glanzmann thrombasthenia fail to form large platelet thrombi due to mutations that affect the biosynthesis and/or function of the αIIbβ3 integrin. The result is a moderate to severe bleeding syndrome. We now report unusual vascular behaviour in a 55-year-old woman with classic type I disease (with no platelet αIIbβ3 expression) and a homozygous ITGA2B missense mutation (E324K) affecting the terminal β-propeller domain of αIIb. While exhibiting classic bleeding symptoms as a child, in later life this woman first developed deep vein thrombosis after a long air flight then showed vascular problems characteristic of Raynaud’s phenomenon, and finally this year she presented with chest pains suggestive of coronary heart disease. Yet while coronary angiography first showed a stenosis, this was not seen on a second examination when she was diagnosed with coronary spastic angina and Prinzmetal phenomenon. It is significant that the absence of platelet aggregation with physiologic agonists had not prevented any of the above cardiovascular or vascular diseases. |
| format | Article |
| id | doaj-art-5fe8bf83eb754ecb86c1da3bcb356f68 |
| institution | Kabale University |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-5fe8bf83eb754ecb86c1da3bcb356f682025-08-20T03:34:53ZengWileyCase Reports in Hematology2090-65602090-65792012-01-01201210.1155/2012/156290156290Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann ThrombastheniaAlan Nurden0Patrick Mercié1Pascal Zely2Paquita Nurden3Plateforme Technologique et d’Innovation Biomédicale, Hôpital Xavier Arnozan, 33600 Pessac, FranceService de Médecine Interne, Hôpital Saint André, 33000 Bordeaux, FranceClinique Saint Augustin, 33000 Bordeaux, FrancePlateforme Technologique et d’Innovation Biomédicale, Hôpital Xavier Arnozan, 33600 Pessac, FrancePatients with Glanzmann thrombasthenia fail to form large platelet thrombi due to mutations that affect the biosynthesis and/or function of the αIIbβ3 integrin. The result is a moderate to severe bleeding syndrome. We now report unusual vascular behaviour in a 55-year-old woman with classic type I disease (with no platelet αIIbβ3 expression) and a homozygous ITGA2B missense mutation (E324K) affecting the terminal β-propeller domain of αIIb. While exhibiting classic bleeding symptoms as a child, in later life this woman first developed deep vein thrombosis after a long air flight then showed vascular problems characteristic of Raynaud’s phenomenon, and finally this year she presented with chest pains suggestive of coronary heart disease. Yet while coronary angiography first showed a stenosis, this was not seen on a second examination when she was diagnosed with coronary spastic angina and Prinzmetal phenomenon. It is significant that the absence of platelet aggregation with physiologic agonists had not prevented any of the above cardiovascular or vascular diseases.http://dx.doi.org/10.1155/2012/156290 |
| spellingShingle | Alan Nurden Patrick Mercié Pascal Zely Paquita Nurden Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia Case Reports in Hematology |
| title | Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia |
| title_full | Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia |
| title_fullStr | Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia |
| title_full_unstemmed | Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia |
| title_short | Deep Vein Thrombosis, Raynaud's Phenomenon, and Prinzmetal Angina in a Patient with Glanzmann Thrombasthenia |
| title_sort | deep vein thrombosis raynaud s phenomenon and prinzmetal angina in a patient with glanzmann thrombasthenia |
| url | http://dx.doi.org/10.1155/2012/156290 |
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