Glanzmann's thrombasthenia historical perspective: Difference between revisions
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In 1918, Eduard Glanzmann, a Swiss pediatrician, first described this disease . | In 1918, Eduard Glanzmann, a Swiss pediatrician, first described this disease . | ||
It was known formerly as “hereditary hemorrhagic thrombasthenia”, but Glanzmann recognized that this disorder was not attributed to an abnormal number of platelets, but rather a faulty [[clot retraction]], which paved the way for future work.<ref name="pmid26185478">{{cite journal| author=Solh T, Botsford A, Solh M| title=Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 219-27 | pmid=26185478 | doi=10.2147/JBM.S71319 | pmc=4501245 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26185478 }}</ref> | It was known formerly as “hereditary hemorrhagic thrombasthenia”, but Glanzmann recognized that this disorder was not attributed to an abnormal number of platelets, but rather a faulty [[clot retraction]], which paved the way for future work. | ||
According to a biographical account, Glanzmann’s encounter with a symptomatic 7-year-old girl led him to study the disease within families. Noting a familial pattern and symptoms manifesting in children, he considered a possible hereditary component. The disease was later defined as a heritable platelet disorder secondary to a dysfunction in GPIIb/IIIa complex.<ref name="pmid26185478">{{cite journal| author=Solh T, Botsford A, Solh M| title=Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 219-27 | pmid=26185478 | doi=10.2147/JBM.S71319 | pmc=4501245 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26185478 }}</ref> | |||
In 1956, Braunsteiner and Pakesch reviewed disorders of platelet function and described thrombasthenia as an inherited disease characterized by platelets of normal size that failed to spread onto the surface and did not support clot retraction. | In 1956, Braunsteiner and Pakesch reviewed disorders of platelet function and described thrombasthenia as an inherited disease characterized by platelets of normal size that failed to spread onto the surface and did not support clot retraction. | ||
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Those patients with absent [[platelet aggregation]] and absent clot retraction were subsequently termed as having type I disease; those with absent aggregation but residual clot retraction, type II disease; while variant disease was first established in 1987.<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> | Those patients with absent [[platelet aggregation]] and absent clot retraction were subsequently termed as having type I disease; those with absent aggregation but residual clot retraction, type II disease; while variant disease was first established in 1987.<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> | ||
Today GT receives much recognition, as it was one of the first disorders to define [[GPIIb/IIIa]] as a platelet receptor for adhesive molecules (such as [[Von Willebrand factor|VWF]] and [[fibrinogen]]). The disease also served as a template for understanding processes of platelet aggregation as well as targets for therapeutic measures.<ref name="pmid26185478" /> | |||
==References== | ==References== | ||
Revision as of 05:03, 2 July 2018
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Glanzmann's thrombasthenia |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Historical Perspective
In 1918, Eduard Glanzmann, a Swiss pediatrician, first described this disease .
It was known formerly as “hereditary hemorrhagic thrombasthenia”, but Glanzmann recognized that this disorder was not attributed to an abnormal number of platelets, but rather a faulty clot retraction, which paved the way for future work.
According to a biographical account, Glanzmann’s encounter with a symptomatic 7-year-old girl led him to study the disease within families. Noting a familial pattern and symptoms manifesting in children, he considered a possible hereditary component. The disease was later defined as a heritable platelet disorder secondary to a dysfunction in GPIIb/IIIa complex.[1]
In 1956, Braunsteiner and Pakesch reviewed disorders of platelet function and described thrombasthenia as an inherited disease characterized by platelets of normal size that failed to spread onto the surface and did not support clot retraction.
In 1964 the diagnostic features of GT, including the absence of platelet aggregation as the primary feature were clearly established by the classic report on 15 French patients by Caen et al.
Those patients with absent platelet aggregation and absent clot retraction were subsequently termed as having type I disease; those with absent aggregation but residual clot retraction, type II disease; while variant disease was first established in 1987.[2]
Today GT receives much recognition, as it was one of the first disorders to define GPIIb/IIIa as a platelet receptor for adhesive molecules (such as VWF and fibrinogen). The disease also served as a template for understanding processes of platelet aggregation as well as targets for therapeutic measures.[1]
References
- ↑ 1.0 1.1 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.
- ↑ Nurden AT (2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.