Glanzmann's thrombasthenia differential diagnosis
Glanzmann's thrombasthenia |
Differentiating Glanzmann's thrombasthenia from other Diseases |
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Diagnosis |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Glanzmann thrombasthenia must be differentiated from other diseases that cause severe hemorrhages , mucocutaneous bleeding , petechiae and ecchymosis, such as Platelet Disorders (like : Bernard-Soulier syndrome,platelet storage pool defects,platelet-type von Willebrand disease and gray platelet syndrome), Fibrinogen abnormalities ,(eg Afibrinogenemia), Von Willebrand Disease and wiskott-Aldrich Syndrome.
Differential Diagnoses
Differential Diagnosis
Diseases | Laboratory Findings | Physical Examination | History and Symptoms | Treatment | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Bleeding Time (BT) | PT | aPTT | Platelet count | vWF | Petechiae
& Purpura |
Ecchymosis | Mucocutaneous hemorrhage | Severe bleeding | Epistaxis | Oral bleeding | Menorrhagia & Postpartum hemorrhage | Hemarthrosis | ||
Glanzmann Thrombasthenia[1] | ↑ | Normal (Nl) | Nl | lower level of Normal | Nl | + | + | + | + | + | + | + | _ |
|
Von Willebrand disease (vWD) | Nl | Nl | ↑ | Nl | ↓ | + | + | + | + | + | + | + | _ |
|
Platelet disorder | ↓ | |||||||||||||
Variable | Glanzmann Thrombasthenia | Von Willebrand disease (vWD) | Platelet disorder | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Pathophysiology | Autosomal recessive (AR)
GpIIb/IIIa receptor defect ITGA2B and ITGB3 gene |
Autosomal dominant (AD) and autosomal recessive, AR (rare) | Variable depending of type | ||||||||||||
History &
Physical examination |
Ecchymosis
|
|
Superficial bleeding | ||||||||||||
Labratory findings |
|
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Bleeding Time (BT) | Prolonged | ||||||||||||||
Prothrobin time | Normal | Normal | Normal | ||||||||||||
aPTT | Normal | Prolonged | Normal | ||||||||||||
Platelet count | lower level of Normal | Normal | Low | ||||||||||||
vWF | Normal | Decreased | Normal | ||||||||||||
Treatment | Local hemostatic procedures
Anti-fibrinolytic drugs rFVIIa, IVIG, plasmapheresis, systemic corticosteroids, protein A Sepharose immunoadsorption, cyclophosphamide, azathioprine, chemotherapy and rituximab HSCT |
vWF
Desmopressin factor VIII concentrates[3] |
Depends on type |
References
- ↑ 1.0 1.1 Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.
- ↑ Solh T, Botsford A, Solh M (2015). "Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options". J Blood Med. 6: 219–27. doi:10.2147/JBM.S71319. PMC 4501245. PMID 26185478.
- ↑ 3.0 3.1 de Wee EM, Sanders YV, Mauser-Bunschoten EP, van der Bom JG, Degenaar-Dujardin ME, Eikenboom J; et al. (2012). "Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease". Thromb Haemost. 108 (4): 683–92. doi:10.1160/TH12-04-0244. PMID 22918553.