Glanzmann's thrombasthenia differential diagnosis: Difference between revisions

Latest revision as of 21:52, 29 July 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Omer Kamal, M.D.[2], Niyousha Danesh, MD-MPH

Overview

Glanzman’s 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

Platelet Disorders (like : Bernard-Soulier syndrome,platelet storage pool defects,platelet-type von Willebrand disease and gray platelet syndrome)^[1]Bernard-Soulier Syndrome^[2]

Von Willebrand Disease
Wiskott-Aldrich Syndrome
Fibrinogen abnormalities(eg Afibrinogenemia)

Differential Diagnosis

Diseases	Laboratory Findings					Physical Examination				History and Symptoms						Treatment
Diseases	Bleeding Time (BT)	PT	aPTT	Platelet count	vWF	Petechiae & Purpura	Ecchymosis	Mucocutaneous hemorrhage	Severe fatal bleeding	Epistaxis	Oral bleeding	Menorrhagia & Postpartum hemorrhage	Infection	Hemarthrosis	Additional information	Treatment
Glanzmann Thrombasthenia^[3]	↑	Normal (Nl)	Nl	lower level of Normal	Nl	+	+	+	+	+	+	+	_	_	Autosomal recessive (AR) GpIIb/IIIa receptor defect ITGA2B and ITGB3 gene Platelet aggregation responds to ristocetin but not (ADP), epinephrine, and collagen.	Local hemostatic procedures Anti-fibrinolytic drugs rFVIIa, IVIG, plasmapheresis, corticosteroids, rituximab HSCT^[4]
Von Willebrand disease (vWD)	Nl	Nl	↑	Nl	↓	+	+	+	+	+	+	+	_	_	Autosomal dominant (AD) and autosomal recessive, AR (rare)	vWF DDAVP factor VIII concentrates^[1]
Bernard-Soulier Syndrome^[2]	↑	↓	Nl	↓ giant platelets	↑	+	+	+	+	+	+	+	_	_	AR ↓GPIb/IX/V platelets platelets do not aggregate in response to ristocetin but responds to ADP, epinephrine, and collagen	DDAVP antifibrinolytic rFVIIa^[5]
Wiskott-Aldrich Syndrome^[6]	Nl	Nl	Nl	↓ microthrombocytopenia	Nl	+	+	↓	+ (specially GI bleeding)	+	↓	↓	+	_	X-linked defect in The WASp gene +Severe eczema	antibiotics, antivirals, antifungals, chemotherapy immunoglobulins corticosteroids
Inherited Abnormalities of Fibrinogen^[7]	↑	↑	↑	Nl	↓	Inherited Abnormalities of Fibrinogen	+	+	+	+	+	+	_	+	Fibrinogen defect 3gene:FGA, FGB, and FGG	Fibrinogen concentrates cryoprecipitate^[8]

References

↑ ^1.0 ^1.1 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.
↑ ^2.0 ^2.1 Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder". Arch Pathol Lab Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445.
↑ 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.
↑ Diz-Küçükkaya R (2013). "Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome". Hematology Am Soc Hematol Educ Program. 2013: 268–75. doi:10.1182/asheducation-2013.1.268. PMID 24319190.
↑ Ochs HD, Thrasher AJ (2006). "The Wiskott-Aldrich syndrome". J Allergy Clin Immunol. 117 (4): 725–38, quiz 739. doi:10.1016/j.jaci.2006.02.005. PMID 16630926.
↑ Zhou J, Ding Q, Chen Y, Ouyang Q, Jiang L, Dai J; et al. (2015). "Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia". Blood Cells Mol Dis. 55 (4): 308–15. doi:10.1016/j.bcmd.2015.06.002. PMID 26460252.
↑ Verhovsek M, Moffat KA, Hayward CP (2008). "Laboratory testing for fibrinogen abnormalities". Am J Hematol. 83 (12): 928–31. doi:10.1002/ajh.21293. PMID 18951466.

[pmid22918553-1] 1.0 ^1.1 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.

[pmid18081445-2] 2.0 ^2.1 Pham A, Wang J (2007). "Bernard-Soulier syndrome: an inherited platelet disorder". Arch Pathol Lab Med. 131 (12): 1834–6. doi:10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2. PMID 18081445.

[pmid16722529-3] Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.

[pmid26185478-4] 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.

[pmid24319190-5] Diz-Küçükkaya R (2013). "Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome". Hematology Am Soc Hematol Educ Program. 2013: 268–75. doi:10.1182/asheducation-2013.1.268. PMID 24319190.

[pmid16630926-6] Ochs HD, Thrasher AJ (2006). "The Wiskott-Aldrich syndrome". J Allergy Clin Immunol. 117 (4): 725–38, quiz 739. doi:10.1016/j.jaci.2006.02.005. PMID 16630926.

[pmid26460252-7] Zhou J, Ding Q, Chen Y, Ouyang Q, Jiang L, Dai J; et al. (2015). "Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia". Blood Cells Mol Dis. 55 (4): 308–15. doi:10.1016/j.bcmd.2015.06.002. PMID 26460252.

[pmid18951466-8] Verhovsek M, Moffat KA, Hayward CP (2008). "Laboratory testing for fibrinogen abnormalities". Am J Hematol. 83 (12): 928–31. doi:10.1002/ajh.21293. PMID 18951466.

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