Glanzmann's thrombasthenia differential diagnosis: Difference between revisions

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==Overview==
==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.
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 Diagnoses ==
*  
* platelet Disorders (like : [[Bernard-Soulier syndrome]],platelet storage pool defects,platelet-type [[von Willebrand disease]] and [[gray platelet syndrome]]),
*  
* [[Von Willebrand Disease]] and
*  
* [[Wiskott-Aldrich Syndrome]].
* [[Fibrinogen]] abnormalities ,(eg [[Afibrinogenemia]])


==Differential Diagnosis==
==Differential Diagnosis==
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! colspan="5" |Laboratory Findings
! colspan="5" |Laboratory Findings
! colspan="4" |Physical Examination
! colspan="4" |Physical Examination
! colspan="4" |History and Symptoms
! colspan="5" |History and Symptoms
!
! rowspan="2" |Treatment
! rowspan="2" |Treatment
|-
|-
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!Ecchymosis
!Ecchymosis
!Mucocutaneous hemorrhage  
!Mucocutaneous hemorrhage  
!Severe bleeding
!Severe fatal bleeding
!Epistaxis
!Epistaxis
!Oral bleeding
!Oral bleeding
![[Menorrhagia]] & [[Postpartum hemorrhage]]
![[Menorrhagia]] & [[Postpartum hemorrhage]]
!Infection
!Hemarthrosis
!Hemarthrosis
!Additional
information
|-
|-
|Glanzmann Thrombasthenia<ref name="pmid16722529" />
|Glanzmann Thrombasthenia<ref name="pmid16722529">{{cite journal| author=Nurden AT| title=Glanzmann thrombasthenia. | journal=Orphanet J Rare Dis | year= 2006 | volume= 1 | issue=  | pages= 10 | pmid=16722529 | doi=10.1186/1750-1172-1-10 | pmc=1475837 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16722529  }}</ref>
|'''↑'''
|'''↑'''
|Normal (Nl)
|Normal (Nl)
Line 50: Line 55:
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|_
|_
|_
|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
* Local hemostatic procedures
Line 70: Line 81:
| +
| +
|_
|_
|_
|Autosomal dominant (AD) and autosomal recessive, AR (rare)
|
|
* vWF
* vWF
* Desmopressin
* DDAVP
* factor VIII concentrates<ref name="pmid22918553" />
* factor VIII concentrates<ref name="pmid22918553">{{cite journal| author=de Wee EM, Sanders YV, Mauser-Bunschoten EP, van der Bom JG, Degenaar-Dujardin ME, Eikenboom J et al.| title=Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease. | journal=Thromb Haemost | year= 2012 | volume= 108 | issue= 4 | pages= 683-92 | pmid=22918553 | doi=10.1160/TH12-04-0244 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22918553  }}</ref>
|-
|-
|Platelet disorder
|[[Bernard-Soulier Syndrome]]<ref name="pmid18081445">{{cite journal| author=Pham A, Wang J| title=Bernard-Soulier syndrome: an inherited platelet disorder. | journal=Arch Pathol Lab Med | year= 2007 | volume= 131 | issue= 12 | pages= 1834-6 | pmid=18081445 | doi=10.1043/1543-2165(2007)131[1834:BSAIPD]2.0.CO;2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18081445  }}</ref>
|
|'''↑'''
|↓
|Nl
|↓
|↓
giant platelets
|'''↑'''
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|_
|_
|AR
↓GPIb/IX/V  platelets
* platelets do not aggregate in response to ristocetin but responds to ADP, epinephrine, and collagen
|
|
|
* DDAVP
|
* antifibrinolytic
|
* rFVIIa<ref name="pmid24319190">{{cite journal| author=Diz-Küçükkaya R| title=Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. | journal=Hematology Am Soc Hematol Educ Program | year= 2013 | volume= 2013 | issue=  | pages= 268-75 | pmid=24319190 | doi=10.1182/asheducation-2013.1.268 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24319190  }}</ref>
|
|
|
|
|
|
|
|
|-
|-
|
|[[Wiskott-Aldrich Syndrome]]<ref name="pmid16630926">{{cite journal| author=Ochs HD, Thrasher AJ| title=The Wiskott-Aldrich syndrome. | journal=J Allergy Clin Immunol | year= 2006 | volume= 117 | issue= 4 | pages= 725-38; quiz 739 | pmid=16630926 | doi=10.1016/j.jaci.2006.02.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16630926  }}</ref>
|
|Nl
|
|Nl
|
|Nl
|
|↓
|
 
|
microthrombocytopenia
|
|Nl
|
| +
|
|<nowiki>+</nowiki>
|
|↓
|
|<nowiki>+</nowiki>
|
|
|
|-
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|}
{| class="wikitable"
|+
!Variable
!Glanzmann Thrombasthenia
![[Von Willebrand disease]] ('''vWD)'''
!
!
!Platelet disorder
|-
|Pathophysiology
|Autosomal recessive (AR)
[[GpIIb/IIIa]] receptor defect


ITGA2B and ITGB3 gene
(specially GI bleeding)
|Autosomal dominant (AD) and autosomal recessive, AR (rare)
| +
|↓
|↓
| +
|_
|
|
|
* X-linked defect in The WASp gene
|Variable depending of type
|-
|History &
Physical examination
|Ecchymosis
* Epistaxis
* gingival Bleeding 
* Prolonged bleeding with minor injuries
* Heavy menstrual bleeding
* postpartum hemorrhage
* gastrointestinal bleeding
* Heavy bleeding during and after surgery <ref name="pmid16722529">{{cite journal| author=Nurden AT| title=Glanzmann thrombasthenia. | journal=Orphanet J Rare Dis | year= 2006 | volume= 1 | issue=  | pages= 10 | pmid=16722529 | doi=10.1186/1750-1172-1-10 | pmc=1475837 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16722529  }}</ref>
|
* Epistaxis
* Ecchymosis  .


* [[Menorrhagia|Heavy menstrual periods ,]]
* +Severe eczema
* [[Postpartum hemorrhage]]
* [[Mucocutaneaus hemorrhage|Mucocutaneous hemorrhage]]
* Bleeding after surgery in adults.
|
|
|
* antibiotics, antivirals, antifungals,
|Superficial bleeding
* chemotherapy
* immunoglobulins
* corticosteroids
|-
|-
|Labratory findings
|[[Inherited Abnormalities of Fibrinogen]]<ref name="pmid26460252">{{cite journal| author=Zhou J, Ding Q, Chen Y, Ouyang Q, Jiang L, Dai J et al.| title=Clinical features and molecular basis of 102 Chinese patients with congenital dysfibrinogenemia. | journal=Blood Cells Mol Dis | year= 2015 | volume= 55 | issue= 4 | pages= 308-15 | pmid=26460252 | doi=10.1016/j.bcmd.2015.06.002 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26460252  }}</ref>
|
|'''↑'''
{| class="wikitable"
|'''↑'''
|Bleeding Time (BT)
|'''↑'''
|Prolonged
|Nl
|-
|↓
|Prothrobin time
|Inherited Abnormalities of Fibrinogen
|Normal
|<nowiki>+</nowiki>
|-
|<nowiki>+</nowiki>
|aPTT
|<nowiki>+</nowiki>
|Normal
| +
|-
|<nowiki>+</nowiki>
|Platelet count
|<nowiki>+</nowiki>
|lower level of Normal
|_
|-
|<nowiki>+</nowiki>
|vWF
|Fibrinogen defect
|Normal
|}
|
|
|
|
|-
|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<ref name="pmid22918553">{{cite journal| author=de Wee EM, Sanders YV, Mauser-Bunschoten EP, van der Bom JG, Degenaar-Dujardin ME, Eikenboom J et al.| title=Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease. | journal=Thromb Haemost | year= 2012 | volume= 108 | issue= 4 | pages= 683-92 | pmid=22918553 | doi=10.1160/TH12-04-0244 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22918553  }}</ref>
''3gene:FGA'', ''FGB'', and ''FGG''
|
|
|
|Depends on type
* Fibrinogen concentrates
* cryoprecipitate<ref name="pmid18951466">{{cite journal| author=Verhovsek M, Moffat KA, Hayward CP| title=Laboratory testing for fibrinogen abnormalities. | journal=Am J Hematol | year= 2008 | volume= 83 | issue= 12 | pages= 928-31 | pmid=18951466 | doi=10.1002/ajh.21293 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18951466  }}</ref>
|}
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Revision as of 15:14, 20 July 2018

Glanzmann's thrombasthenia

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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 fatal bleeding Epistaxis Oral bleeding Menorrhagia & Postpartum hemorrhage Infection Hemarthrosis Additional

information

Glanzmann Thrombasthenia[1] ↑ 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[2]
Von Willebrand disease (vWD) Nl Nl ↑ Nl ↓ + + + + + + + _ _ Autosomal dominant (AD) and autosomal recessive, AR (rare)
  • vWF
  • DDAVP
  • factor VIII concentrates[3]
Bernard-Soulier Syndrome[4] ↑ ↓ 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. ↑ Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.
  2. ↑ 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. ↑ 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.
  4. ↑ 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.
  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.
  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.
  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.
  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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