Glanzmann's thrombasthenia history and symptoms: Difference between revisions
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{{Glanzmann's thrombasthenia}} | {{Glanzmann's thrombasthenia}} | ||
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==Overview== | ==Overview== | ||
[[Glanzmann's thrombasthenia]] is diagnosed at the [[neonatal]] age or early [[childhood]], commonly before the age of 5 and the early manifestations are mostly easily [[bruising]], [[mucocutaneous]] [[bleeding]], [[epistaxis]] due to digital manipulation or a severe [[hemorrhage]] after a [[surgery]], such as circumcision. The severity of the presenting symptoms has no known relation to the affected [[gene]]. However, [[mutations]] in the [[ITGB3BP|ITGB3]] [[gene]] manifest [[bleeding]] more than the other [[gene]]. Symptoms of [[Glanzmann's thrombasthenia]] varies from a minor [[bruise]] to a life-threatening [[hemorrhage]]. It may include easily [[bruising]] (76.6%), [[nosebleeds]] that do not stop easily (62.5%), [[bleeding gums]] (56.4%), prolonged [[bleeding]] with minor [[injuries]] (47.2%), heavy [[menstrual bleeding]], [[postpartum bleeding]], [[gastrointestinal bleeding]], heavy [[bleeding]] during and after [[surgery]] and [[bleeding]] into [[joints]] (rare). | |||
==History== | ==History== | ||
[[Glanzmann's thrombasthenia]] is diagnosed at the [[neonatal]] age or early [[childhood]], commonly before the age of 5 and the early manifestations are mostly easily bruising, [[mucocutaneous]] [[bleeding]], [[epistaxis]] due to digital manipulation or a severe [[hemorrhage]] after a [[surgery]], such as circumcision. The severity of the presenting symptoms has no known relation to the affected [[gene]]. However, [[mutations]] in the [[ITGB3BP|ITGB3]] gene manifest [[bleeding]] more than the other gene.<ref name="pmid18186523">{{cite journal |vauthors=Bakdash S, Lyons JM, Bastacky SI, Pezzone MA, McGee JB, Schoen RE, Regueiro M, Lee KK, Bontempo FA |title=Management of persistent gastric bleeding in a patient with Glanzmann's thrombasthenia |journal=Am. J. Hematol. |volume=83 |issue=5 |pages=411–5 |date=May 2008 |pmid=18186523 |doi=10.1002/ajh.21122 |url=}}</ref> | |||
==Symptoms== | ==Symptoms== | ||
Symptoms of Glanzmann's thrombasthenia may include any of the following: | Symptoms of [[Glanzmann's thrombasthenia]] vary from a minor [[bruise]] to a life-threatening [[hemorrhage]]<ref name="pmid18186523">{{cite journal |vauthors=Bakdash S, Lyons JM, Bastacky SI, Pezzone MA, McGee JB, Schoen RE, Regueiro M, Lee KK, Bontempo FA |title=Management of persistent gastric bleeding in a patient with Glanzmann's thrombasthenia |journal=Am. J. Hematol. |volume=83 |issue=5 |pages=411–5 |date=May 2008 |pmid=18186523 |doi=10.1002/ajh.21122 |url=}}</ref>. It may include any of the following manifestations:<ref name="pmid18186523">{{cite journal |vauthors=Bakdash S, Lyons JM, Bastacky SI, Pezzone MA, McGee JB, Schoen RE, Regueiro M, Lee KK, Bontempo FA |title=Management of persistent gastric bleeding in a patient with Glanzmann's thrombasthenia |journal=Am. J. Hematol. |volume=83 |issue=5 |pages=411–5 |date=May 2008 |pmid=18186523 |doi=10.1002/ajh.21122 |url=}}</ref><ref name="pmid2180491">{{cite journal |vauthors=George JN, Caen JP, Nurden AT |title=Glanzmann's thrombasthenia: the spectrum of clinical disease |journal=Blood |volume=75 |issue=7 |pages=1383–95 |date=April 1990 |pmid=2180491 |doi= |url=}}</ref><ref name="pmid15389911">{{cite journal |vauthors=Toogeh G, Sharifian R, Lak M, Safaee R, Artoni A, Peyvandi F |title=Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran |journal=Am. J. Hematol. |volume=77 |issue=2 |pages=198–9 |date=October 2004 |pmid=15389911 |doi=10.1002/ajh.20159 |url=}}</ref><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> | ||
* | * Easily [[bruising]] (76.6%) | ||
* Bleeding gums | * [[Nosebleeds]] that do not stop easily (62.5%) | ||
* | * [[Bleeding gums]] (56.4%) | ||
* Heavy menstrual bleeding | * Prolonged [[bleeding]] with minor injuries (47.2%) | ||
* | * Heavy [[menstrual bleeding]] | ||
* | * [[Postpartum bleeding]] | ||
* [[Gastrointestinal bleeding]] | |||
* Heavy [[bleeding]] during and after [[surgery]] | |||
* [[Bleeding]] into [[joints]] (rare) <ref name="pmid27539755">{{cite journal| author=Iqbal I, Farhan S, Ahmed N| title=Glanzmann Thrombasthenia: A Clinicopathological Profile. | journal=J Coll Physicians Surg Pak | year= 2016 | volume= 26 | issue= 8 | pages= 647-50 | pmid=27539755 | doi=2396 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27539755 }}</ref> | |||
==References== | ==References== | ||
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[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
Latest revision as of 21:52, 29 July 2020
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Glanzmann's thrombasthenia |
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Differentiating Glanzmann's thrombasthenia from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Glanzmann's thrombasthenia history and symptoms On the Web |
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American Roentgen Ray Society Images of Glanzmann's thrombasthenia history and symptoms |
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Risk calculators and risk factors for Glanzmann's thrombasthenia history and symptoms |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2] Associate Editor(s)-in-Chief: Omer Kamal, M.D.[3]
Overview
Glanzmann's thrombasthenia is diagnosed at the neonatal age or early childhood, commonly before the age of 5 and the early manifestations are mostly easily bruising, mucocutaneous bleeding, epistaxis due to digital manipulation or a severe hemorrhage after a surgery, such as circumcision. The severity of the presenting symptoms has no known relation to the affected gene. However, mutations in the ITGB3 gene manifest bleeding more than the other gene. Symptoms of Glanzmann's thrombasthenia varies from a minor bruise to a life-threatening hemorrhage. It may include easily bruising (76.6%), nosebleeds that do not stop easily (62.5%), bleeding gums (56.4%), prolonged bleeding with minor injuries (47.2%), heavy menstrual bleeding, postpartum bleeding, gastrointestinal bleeding, heavy bleeding during and after surgery and bleeding into joints (rare).
History
Glanzmann's thrombasthenia is diagnosed at the neonatal age or early childhood, commonly before the age of 5 and the early manifestations are mostly easily bruising, mucocutaneous bleeding, epistaxis due to digital manipulation or a severe hemorrhage after a surgery, such as circumcision. The severity of the presenting symptoms has no known relation to the affected gene. However, mutations in the ITGB3 gene manifest bleeding more than the other gene.[1]
Symptoms
Symptoms of Glanzmann's thrombasthenia vary from a minor bruise to a life-threatening hemorrhage[1]. It may include any of the following manifestations:[1][2][3][4]
- Easily bruising (76.6%)
- Nosebleeds that do not stop easily (62.5%)
- Bleeding gums (56.4%)
- Prolonged bleeding with minor injuries (47.2%)
- Heavy menstrual bleeding
- Postpartum bleeding
- Gastrointestinal bleeding
- Heavy bleeding during and after surgery
- Bleeding into joints (rare) [5]
References
- ↑ 1.0 1.1 1.2 Bakdash S, Lyons JM, Bastacky SI, Pezzone MA, McGee JB, Schoen RE, Regueiro M, Lee KK, Bontempo FA (May 2008). "Management of persistent gastric bleeding in a patient with Glanzmann's thrombasthenia". Am. J. Hematol. 83 (5): 411–5. doi:10.1002/ajh.21122. PMID 18186523.
- ↑ George JN, Caen JP, Nurden AT (April 1990). "Glanzmann's thrombasthenia: the spectrum of clinical disease". Blood. 75 (7): 1383–95. PMID 2180491.
- ↑ Toogeh G, Sharifian R, Lak M, Safaee R, Artoni A, Peyvandi F (October 2004). "Presentation and pattern of symptoms in 382 patients with Glanzmann thrombasthenia in Iran". Am. J. Hematol. 77 (2): 198–9. doi:10.1002/ajh.20159. PMID 15389911.
- ↑ 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.
- ↑ Iqbal I, Farhan S, Ahmed N (2016). "Glanzmann Thrombasthenia: A Clinicopathological Profile". J Coll Physicians Surg Pak. 26 (8): 647–50. doi:2396 Check
|doi=value (help). PMID 27539755.