Glanzmann's thrombasthenia physical examination: Difference between revisions

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==Overview==
==Overview==


Patients with Glanzmann’s thrombasthenia may be asymptomatic, or they could manifest mucosal bleeding, ecchymoses,petechiae and purpura or current bleeding on physical exam.<ref name="pmid23929305">{{cite journal| author=Nurden AT, Pillois X, Wilcox DA| title=Glanzmann thrombasthenia: state of the art and future directions. | journal=Semin Thromb Hemost | year= 2013 | volume= 39 | issue= 6 | pages= 642-55 | pmid=23929305 | doi=10.1055/s-0033-1353393 | pmc=4011384 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23929305  }}</ref>
Patients with [[Glanzmann's thrombasthenia]] may be [[asymptomatic]], or they could manifest [[mucosal bleeding]], [[ecchymoses]], [[petechiae]] and [[purpura]] or current [[bleeding]] on [[physical exam]].


==Physical examination==
==Physical examination==


Patients with [[Glanzmann's thrombasthenia]] may be [[asymptomatic]], or they could manifest [[mucosal bleeding]], [[ecchymoses]], [[petechiae]] and [[purpura]] or current [[bleeding]] on [[physical exam]].<ref name="pmid21917754">{{cite journal |vauthors=Nurden AT, Fiore M, Nurden P, Pillois X |title=Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models |journal=Blood |volume=118 |issue=23 |pages=5996–6005 |date=December 2011 |pmid=21917754 |doi=10.1182/blood-2011-07-365635 |url=}}</ref><ref name="pmid30117143">{{cite journal |vauthors=Grainger JD, Thachil J, Will AM |title=How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults |journal=Br. J. Haematol. |volume=182 |issue=5 |pages=621–632 |date=September 2018 |pmid=30117143 |doi=10.1111/bjh.15409 |url=}}</ref><ref name="pmid30097224">{{cite journal |vauthors=Bannow BS, Konkle BA |title=Inherited Bleeding Disorders in the Obstetric Patient |journal=Transfus Med Rev |volume=32 |issue=4 |pages=237–243 |date=October 2018 |pmid=30097224 |doi=10.1016/j.tmrv.2018.06.003 |url=}}</ref><ref name="pmid30078718">{{cite journal |vauthors=Barg AA, Hauschner H, Misgav M, Lubetsky A, Levy-Mendelowitz S, Livnat T, Avishai E, Rosenberg N, Kenet G |title=A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures |journal=Blood Cells Mol. Dis. |volume=72 |issue= |pages=44–48 |date=September 2018 |pmid=30078718 |doi=10.1016/j.bcmd.2018.07.003 |url=}}</ref><ref name="pmid30032577">{{cite journal |vauthors=Zhou L, Wang ZY, Ruan CG |title=[Special type of Glanzmann's thrombasthenia] |language=Chinese |journal=Zhonghua Xue Ye Xue Za Zhi |volume=39 |issue=6 |pages=524–526 |date=June 2018 |pmid=30032577 |doi=10.3760/cma.j.issn.0253-2727.2018.06.021 |url=}}</ref><ref name="pmid30031712">{{cite journal |vauthors=Lee A, Poon MC |title=Inherited platelet functional disorders: General principles and practical aspects of management |journal=Transfus. Apher. Sci. |volume=57 |issue=4 |pages=494–501 |date=August 2018 |pmid=30031712 |doi=10.1016/j.transci.2018.07.010 |url=}}</ref><ref name="pmid29985398">{{cite journal |vauthors=Blair TA, Michelson AD, Frelinger AL |title=Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia |journal=Sci Rep |volume=8 |issue=1 |pages=10300 |date=July 2018 |pmid=29985398 |pmc=6037710 |doi=10.1038/s41598-018-28211-5 |url=}}</ref><ref name="pmid29945125">{{cite journal |vauthors=Buckley F, Norris A, Kerr R |title=Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia |journal=Acta Haematol. |volume=139 |issue=4 |pages=243–246 |date=2018 |pmid=29945125 |doi=10.1159/000489114 |url=}}</ref>
=== Appearance of the Patient ===
=== Appearance of the Patient ===
* Patient appears well in the absence of severe hemorrhage  
* Patient appears well in the absence of severe [[hemorrhage]]
* Patient appears ill in the persistent bleeding .
* Patient appears ill in the persistent [[bleeding]]


=== Vital Signs ===
=== Vital Signs ===
* may have[[Tachycardia]], depends on the severity of the bleeding.
* [[Tachycardia]], depending on the severity of the [[bleeding]]
* may have[[Tachypnea]] depends on severity of the bleeding
* [[Tachypnea]] depending on severity of the [[bleeding]]


=== Skin ===
=== Skin ===
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=== HEENT ===
=== HEENT ===
* Evidence of trauma
* Evidence of [[trauma]]
* pale conjunctiva
* Pale [[conjunctiva]]
* [[Epistaxis]]
* [[Epistaxis]]
* palatal petechiae
* Palatal [[petechiae]]
* gingival or other oral cavity bleeding.
* [[Gingival]] or other [[oral cavity]] [[bleeding]]


=== Neck ===
=== Neck ===
No specific sign.
No specific signs


=== Lungs ===
=== Lungs ===
* commonly normal lung sounds.
* Commonly normal [[lung]] sounds


=== Heart ===
=== Heart ===
* commonly normal heart sounds
* Commonly normal [[heart]] sounds


=== Abdomen ===
=== Abdomen ===
The spleen is usually non palpable.
The [[spleen]] is usually non palpable  


=== Neuromuscular ===
=== Neuromuscular ===
* Patient is usually oriented to persons, place, and time
* Patient is usually oriented to persons, place, and time
* Glasgow coma scale is normally 15 / 15 but may may present loss of consciousness in severe fatal hemorrhage episodes. <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>
* Glasgow coma scale is normally 15 / 15 but may may present loss of [[consciousness]] in severe fatal [[hemorrhage]] episodes <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>


===Gallery===
===Gallery===
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[[Category:Disease]]
[[Category:Disease]]
[[Category:Hematology]]
[[Category:Hematology]]
[[Category:Primary care]]

Latest revision as of 21:52, 29 July 2020

Glanzmann's thrombasthenia

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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

Patients with Glanzmann's thrombasthenia may be asymptomatic, or they could manifest mucosal bleeding, ecchymoses, petechiae and purpura or current bleeding on physical exam.

Physical examination

Patients with Glanzmann's thrombasthenia may be asymptomatic, or they could manifest mucosal bleeding, ecchymoses, petechiae and purpura or current bleeding on physical exam.[1][2][3][4][5][6][7][8]

Appearance of the Patient

  • Patient appears well in the absence of severe hemorrhage
  • Patient appears ill in the persistent bleeding

Vital Signs

Skin

HEENT

Neck

No specific signs

Lungs

  • Commonly normal lung sounds

Heart

  • Commonly normal heart sounds

Abdomen

The spleen is usually non palpable

Neuromuscular

  • Patient is usually oriented to persons, place, and time
  • Glasgow coma scale is normally 15 / 15 but may may present loss of consciousness in severe fatal hemorrhage episodes [9]

Gallery

Extremities

References

  1. ↑ Nurden AT, Fiore M, Nurden P, Pillois X (December 2011). "Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models". Blood. 118 (23): 5996–6005. doi:10.1182/blood-2011-07-365635. PMID 21917754.
  2. ↑ Grainger JD, Thachil J, Will AM (September 2018). "How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults". Br. J. Haematol. 182 (5): 621–632. doi:10.1111/bjh.15409. PMID 30117143.
  3. ↑ Bannow BS, Konkle BA (October 2018). "Inherited Bleeding Disorders in the Obstetric Patient". Transfus Med Rev. 32 (4): 237–243. doi:10.1016/j.tmrv.2018.06.003. PMID 30097224.
  4. ↑ Barg AA, Hauschner H, Misgav M, Lubetsky A, Levy-Mendelowitz S, Livnat T, Avishai E, Rosenberg N, Kenet G (September 2018). "A novel approach using ancillary tests to guide treatment of Glanzmann thrombasthenia patients undergoing surgical procedures". Blood Cells Mol. Dis. 72: 44–48. doi:10.1016/j.bcmd.2018.07.003. PMID 30078718.
  5. ↑ Zhou L, Wang ZY, Ruan CG (June 2018). "[Special type of Glanzmann's thrombasthenia]". Zhonghua Xue Ye Xue Za Zhi (in Chinese). 39 (6): 524–526. doi:10.3760/cma.j.issn.0253-2727.2018.06.021. PMID 30032577.
  6. ↑ Lee A, Poon MC (August 2018). "Inherited platelet functional disorders: General principles and practical aspects of management". Transfus. Apher. Sci. 57 (4): 494–501. doi:10.1016/j.transci.2018.07.010. PMID 30031712.
  7. ↑ Blair TA, Michelson AD, Frelinger AL (July 2018). "Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia". Sci Rep. 8 (1): 10300. doi:10.1038/s41598-018-28211-5. PMC 6037710. PMID 29985398.
  8. ↑ Buckley F, Norris A, Kerr R (2018). "Management of Abdominoperineal Excision of the Rectum in a Patient with Glanzmann Thrombasthenia". Acta Haematol. 139 (4): 243–246. doi:10.1159/000489114. PMID 29945125.
  9. ↑ Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.
  10. ↑ 10.0 10.1 10.2 10.3 10.4 10.5 10.6 10.7 "Dermatology Atlas".
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