| Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access |
| Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc |
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Case Report
Volume 15, Number 12, December 2024, pages 401-405
Gastrointestinal Bleeding/Angiodysplasia in Patients With Glanzmann Thrombasthenia
Tables
| Case number | Lowest Hb | PT | PTT | PFA-100 closure time (s) | Flow-cytometry | Molecular sequencing |
|---|---|---|---|---|---|---|
| GT: Glanzmann thrombasthenia; Hb: hemoglobin; PT: prothrombin time; PTT: partial thromboplastin time; PFA-100: platelet function analyzer-100. | ||||||
| Case 1 | 6.5 | 11 | 26 | > 300 | CD 41 and 61 < 50% | ITGB3:NM_000212:exon13:c.2112delC:p.I704fs |
| Case 2 | 8 | 20 | 28 | > 300 | CD 41 and 61 < 50% | ITGB3:NM_000212:exon13:c.2112delC:p.I704fs |
| Case 3 | 12 | 24 | 287 | CD 41 and 61 absent | ITGA2B:NM_000419:exon20:c.1879-2A>G | |
| Case 4 | 7.9 | 12 | 29 | 263 | CD 41 and 61 < 5% | ITGA2B:NM_000419:exon20:c.1879-2A>G |
| Case 5 | 8.9 | 12 | 35 | > 200 | CD 41 and 61 absent | ITGA2B:NM_000419:exon13:c.1210+5G>A |
| Case 6 | 5.3 | 12.2 | 31.4 | 235 | CD 41 and 61 absent | ITGA2B:NM_000419:exon13:c.1210+5G>A |
| Case 7 | 8.3 | 11 | 32 | CD 41 and 61 < 5% | ITGA2B:NM_000419:exon20:c.1879-2A>G | |
| Case 8 | 8.1 | 12 | 35 | CD 41 and 61 absent | ITGA2B:NM_000419:exon20:c.1879-2A>G | |
| Case number | Lowest Hb | Clinical presentation | Angiodysplasia location | Intervention and management |
|---|---|---|---|---|
| Hb: hemoglobin; PRBC: packed red blood cell, rFVIIa: recombinant activated factor VIIa. | ||||
| Case 1 | 6.5 | Melena | - | rFVIIa, platelet transfusion, PRBC |
| Hematochezia | ||||
| Case 2 | 8 | Melena | Gastric and jejunum | Platelet transfusion, rFVIIa |
| Hematemesis | Endoscopic intervention | |||
| Gastrointestinal angiography done without therapeutic intervention | ||||
| Case 3 | Melena | Duodenum | rFVIIa therapy, platelet transfusion, and blood transfusion | |
| Coffee ground vomiting | ||||
| Case 4 | 7.9 | Melena | - | PRBC, platelet transfusion, and rFVIIa |
| Case 5 | 8.9 | Hematemesis | Duodenum | rFVIIa |
| Melena | ||||
| Case 6 | 5.3 | Melena | Endoscopy could not be performed as patient was unstable | Platelet transfusion |
| Hematochezia | rFVIIa | |||
| PRBC | ||||
| Case 7 | 8.3 | Melena | No abnormality on upper endoscopy | Platelet transfusion, rFVIIa, PRBC |
| Case 8 | 8.1 | Hematemesis | ||