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{{Glanzmann's thrombasthenia}} | {{Glanzmann's thrombasthenia}} | ||
{{CMG}} {{AE}} {{OK}} | |||
==Overview== | ==Overview== | ||
Initial evaluation of a patient for a suspected functional [[platelet]] disorder should include a [[complete blood count]] and examination of the [[peripheral blood smear]]. The [[red blood cell]] count is usually normal. Some patients with [[Glanzmann's thrombasthenia]] may have reduced count of [[red blood cell]], because of coexisting [[iron deficiency]] or [[bleeding]]. The platelet count in [[Glanzmann's thrombasthenia]] is mostly on the lower end of normal. The [[Partial thromboplastin time|activated partial thromboplastin time]] (PTT) and [[prothrombin time]] (PT) are in this disease commonly normal. [[Platelet aggregation]] [[assays]] which is panel of [[assays]] measuring [[platelet aggregation]] and activation in vitro using like [[ADP]], [[arachidonic acid]], [[collagen]], [[epinephrine]], [[thrombin]], and [[ristocetin]]. There are several newer technologies in current clinical use measuring various aspects of [[platelet]] function. The most widely tested is the [[PFA-100]] device. It is used to distinguish between an [[aspirin]]-induced defect and more severe [[platelet]] dysfunction. [[Platelet aggregation]] failure in LTA with all [[agonists]] except [[ristocetin]] is diagnostic of [[Glanzmann's thrombasthenia]]. Laboratory findings consistent with the diagnosis of [[Glanzmann's thrombasthenia]] include prolonged [[bleeding time]] (BT) and failure of [[platelets]] plugging to the collagen-based filter in the [[PFA-100]] test. | |||
==Laboratory Findings== | ==Laboratory Findings== | ||
==='''CBC and peripheral smear examination'''=== | |||
Initial evaluation of a patient for a suspected functional [[platelet]] disorder should include a [[complete blood count]] and examination of the [[peripheral blood smear]]. The [[red blood cell]] count is usually normal. Some patients with [[Glanzmann's thrombasthenia]] may have reduced count of [[red blood cell]], because of coexisting [[iron deficiency]] or [[bleeding]]. The platelet count in [[Glanzmann's thrombasthenia]] is mostly on the lower end of normal.<ref name="pmid20709904">{{cite journal |vauthors=Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T |title=Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p |journal=Blood |volume=116 |issue=23 |pages=4990–5001 |date=December 2010 |pmid=20709904 |pmc=3012593 |doi=10.1182/blood-2010-05-286534 |url=}}</ref><ref name="pmid11520786">{{cite journal |vauthors=Drouin A, Favier R, Massé JM, Debili N, Schmitt A, Elbim C, Guichard J, Adam M, Gougerot-Pocidalo MA, Cramer EM |title=Newly recognized cellular abnormalities in the gray platelet syndrome |journal=Blood |volume=98 |issue=5 |pages=1382–91 |date=September 2001 |pmid=11520786 |doi= |url=}}</ref> | |||
=== Thromboplastin (PTT) and Prothrombin time (PT) === | |||
The [[Partial thromboplastin time|activated partial thromboplastin time]] (PTT) and [[prothrombin time]] (PT) are in this disease commonly normal.<ref name="pmid16722529">{{cite journal |vauthors=Nurden AT |title=Glanzmann thrombasthenia |journal=Orphanet J Rare Dis |volume=1 |issue= |pages=10 |date=April 2006 |pmid=16722529 |pmc=1475837 |doi=10.1186/1750-1172-1-10 |url=}}</ref><ref name="pmid26185478">{{cite journal |vauthors=Solh T, Botsford A, Solh M |title=Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options |journal=J Blood Med |volume=6 |issue= |pages=219–27 |date=2015 |pmid=26185478 |pmc=4501245 |doi=10.2147/JBM.S71319 |url=}}</ref> | |||
=== Platelet aggregation assays === | |||
[[Platelet aggregation]] [[assays]] which is panel of [[assays]] measuring [[platelet aggregation]] and activation in vitro using like [[ADP]], [[arachidonic acid]], [[collagen]], [[epinephrine]], [[thrombin]], and [[ristocetin]] <ref name="pmid19775303">{{cite journal |vauthors=Quiroga T, Goycoolea M, Matus V, Zúñiga P, Martínez C, Garrido M, Aranda E, Leighton F, Panes O, Pereira J, Mezzano D |title=Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays |journal=Br. J. Haematol. |volume=147 |issue=5 |pages=729–36 |date=December 2009 |pmid=19775303 |doi=10.1111/j.1365-2141.2009.07890.x |url=}}</ref><ref name="pmid18663056">{{cite journal |vauthors=Jennings I, Woods TA, Kitchen S, Walker ID |title=Platelet function testing: practice among UK National External Quality Assessment Scheme for Blood Coagulation participants, 2006 |journal=J. Clin. Pathol. |volume=61 |issue=8 |pages=950–4 |date=August 2008 |pmid=18663056 |doi=10.1136/jcp.2008.057174 |url=}}</ref> | |||
=== '''Automated platelet function screening tests''' === | |||
There are several newer technologies in current clinical use measuring various aspects of [[platelet]] function <ref name="pmid10588464">{{cite journal |vauthors=Cattaneo M, Lecchi A, Agati B, Lombardi R, Zighetti ML |title=Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion |journal=Thromb. Res. |volume=96 |issue=3 |pages=213–7 |date=November 1999 |pmid=10588464 |doi= |url=}}</ref><ref name="pmid9579642">{{cite journal |vauthors=Mammen EF, Comp PC, Gosselin R, Greenberg C, Hoots WK, Kessler CM, Larkin EC, Liles D, Nugent DJ |title=PFA-100 system: a new method for assessment of platelet dysfunction |journal=Semin. Thromb. Hemost. |volume=24 |issue=2 |pages=195–202 |date=1998 |pmid=9579642 |doi=10.1055/s-2007-995840 |url=}}</ref><ref name="pmid11528368">{{cite journal |vauthors=Jilma B |title=Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction |journal=J. Lab. Clin. Med. |volume=138 |issue=3 |pages=152–63 |date=September 2001 |pmid=11528368 |doi=10.1067/mlc.2001.117406 |url=}}</ref><ref name="pmid11260277">{{cite journal |vauthors=Favaloro EJ |title=Utility of the PFA-100 for assessing bleeding disorders and monitoring therapy: a review of analytical variables, benefits and limitations |journal=Haemophilia |volume=7 |issue=2 |pages=170–9 |date=March 2001 |pmid=11260277 |doi= |url=}}</ref><ref name="pmid11122132">{{cite journal |vauthors=Harrison P |title=Progress in the assessment of platelet function |journal=Br. J. Haematol. |volume=111 |issue=3 |pages=733–44 |date=December 2000 |pmid=11122132 |doi= |url=}}</ref> | |||
=== '''Platelet Function Analyzer (PFA-100)''' === | |||
The most widely tested is the [[PFA-100]] device. It is used to distinguish between an [[aspirin]]-induced defect and more severe [[platelet]] dysfunction <ref name="pmid10588464">{{cite journal |vauthors=Cattaneo M, Lecchi A, Agati B, Lombardi R, Zighetti ML |title=Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion |journal=Thromb. Res. |volume=96 |issue=3 |pages=213–7 |date=November 1999 |pmid=10588464 |doi= |url=}}</ref><ref name="pmid9579642">{{cite journal |vauthors=Mammen EF, Comp PC, Gosselin R, Greenberg C, Hoots WK, Kessler CM, Larkin EC, Liles D, Nugent DJ |title=PFA-100 system: a new method for assessment of platelet dysfunction |journal=Semin. Thromb. Hemost. |volume=24 |issue=2 |pages=195–202 |date=1998 |pmid=9579642 |doi=10.1055/s-2007-995840 |url=}}</ref><ref name="pmid11528368">{{cite journal |vauthors=Jilma B |title=Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction |journal=J. Lab. Clin. Med. |volume=138 |issue=3 |pages=152–63 |date=September 2001 |pmid=11528368 |doi=10.1067/mlc.2001.117406 |url=}}</ref><ref name="pmid11260277">{{cite journal |vauthors=Favaloro EJ |title=Utility of the PFA-100 for assessing bleeding disorders and monitoring therapy: a review of analytical variables, benefits and limitations |journal=Haemophilia |volume=7 |issue=2 |pages=170–9 |date=March 2001 |pmid=11260277 |doi= |url=}}</ref><ref name="pmid11122132"><nowiki>{{cite journal |vauthors=Harrison P |title=Progress in the assessment of platelet function |journal=Br. J. Haematol. |volume=111 |issue=3 |pages=733–44 </nowiki><nowiki><ref name="pmid19422455"></nowiki>{{cite journal |vauthors=Cattaneo M, Hayward CP, Moffat KA, Pugliano MT, Liu Y, Michelson AD |title=Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: a report from the platelet physiology subcommittee of the SSC of the ISTH |journal=J. Thromb. Haemost. |volume=7 |issue=6 |pages=1029 |date=June 2009 |pmid=19422455 |doi=10.1111/j.1538-7836.2009.03458.x |url=}}</ref><ref name="pmid19143930">{{cite journal |vauthors=Hayward CP, Pai M, Liu Y, Moffat KA, Seecharan J, Webert KE, Cook RJ, Heddle NM |title=Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments |journal=J. Thromb. Haemost. |volume=7 |issue=4 |pages=676–84 |date=April 2009 |pmid=19143930 |doi=10.1111/j.1538-7836.2009.03273.x |url=}}</ref><ref name="pmid13871375">{{cite journal |vauthors=BORN GV |title=Aggregation of blood platelets by adenosine diphosphate and its reversal |journal=Nature |volume=194 |issue= |pages=927–9 |date=June 1962 |pmid=13871375 |doi= |url=}}</ref>. [[Platelet aggregation]] failure in LTA with all [[agonists]] except [[ristocetin]] is diagnostic of [[Glanzmann's thrombasthenia]]. Laboratory findings consistent with the diagnosis of [[Glanzmann's thrombasthenia]] include prolonged [[bleeding time]] (BT) and failure of [[platelets]] plugging to the collagen-based filter in the [[PFA-100]] test. | |||
The diagnosis of [[Glanzmann's thrombasthenia|Glanzmann thrombasthenia]] is confirmed through monoclonal antibody testing and [[flow cytometry]]. The [[coagulation]] tests and [[platelet count]] are usually normal among [[patients]] with [[Glanzmann's thrombasthenia]]. The [[platelet]] morphology on [[peripheral blood smear]] is normal in patients with [[Glanzmann's thrombasthenia]] <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> <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> | |||
==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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Glanzmann's thrombasthenia laboratory findings On the Web |
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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]
Overview
Initial evaluation of a patient for a suspected functional platelet disorder should include a complete blood count and examination of the peripheral blood smear. The red blood cell count is usually normal. Some patients with Glanzmann's thrombasthenia may have reduced count of red blood cell, because of coexisting iron deficiency or bleeding. The platelet count in Glanzmann's thrombasthenia is mostly on the lower end of normal. The activated partial thromboplastin time (PTT) and prothrombin time (PT) are in this disease commonly normal. Platelet aggregation assays which is panel of assays measuring platelet aggregation and activation in vitro using like ADP, arachidonic acid, collagen, epinephrine, thrombin, and ristocetin. There are several newer technologies in current clinical use measuring various aspects of platelet function. The most widely tested is the PFA-100 device. It is used to distinguish between an aspirin-induced defect and more severe platelet dysfunction. Platelet aggregation failure in LTA with all agonists except ristocetin is diagnostic of Glanzmann's thrombasthenia. Laboratory findings consistent with the diagnosis of Glanzmann's thrombasthenia include prolonged bleeding time (BT) and failure of platelets plugging to the collagen-based filter in the PFA-100 test.
Laboratory Findings
CBC and peripheral smear examination
Initial evaluation of a patient for a suspected functional platelet disorder should include a complete blood count and examination of the peripheral blood smear. The red blood cell count is usually normal. Some patients with Glanzmann's thrombasthenia may have reduced count of red blood cell, because of coexisting iron deficiency or bleeding. The platelet count in Glanzmann's thrombasthenia is mostly on the lower end of normal.[1][2]
Thromboplastin (PTT) and Prothrombin time (PT)
The activated partial thromboplastin time (PTT) and prothrombin time (PT) are in this disease commonly normal.[3][4]
Platelet aggregation assays
Platelet aggregation assays which is panel of assays measuring platelet aggregation and activation in vitro using like ADP, arachidonic acid, collagen, epinephrine, thrombin, and ristocetin [5][6]
Automated platelet function screening tests
There are several newer technologies in current clinical use measuring various aspects of platelet function [7][8][9][10][11]
Platelet Function Analyzer (PFA-100)
The most widely tested is the PFA-100 device. It is used to distinguish between an aspirin-induced defect and more severe platelet dysfunction [7][8][9][10][11][12][13]. Platelet aggregation failure in LTA with all agonists except ristocetin is diagnostic of Glanzmann's thrombasthenia. Laboratory findings consistent with the diagnosis of Glanzmann's thrombasthenia include prolonged bleeding time (BT) and failure of platelets plugging to the collagen-based filter in the PFA-100 test.
The diagnosis of Glanzmann thrombasthenia is confirmed through monoclonal antibody testing and flow cytometry. The coagulation tests and platelet count are usually normal among patients with Glanzmann's thrombasthenia. The platelet morphology on peripheral blood smear is normal in patients with Glanzmann's thrombasthenia [4] [3]
References
- ↑ Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, Arcos-Burgos M, Shalata A, Stanescu H, Manaster J, Arat M, Edwards H, Freiberg AS, Hart PS, Riney LC, Patzel K, Tanpaiboon P, Markello T, Huizing M, Maric I, Horne M, Kehrel BE, Jurk K, Hansen NF, Cherukuri PF, Jones M, Cruz P, Mullikin JC, Nurden A, White JG, Gahl WA, Falik-Zaccai T (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p". Blood. 116 (23): 4990–5001. doi:10.1182/blood-2010-05-286534. PMC 3012593. PMID 20709904.
- ↑ Drouin A, Favier R, Massé JM, Debili N, Schmitt A, Elbim C, Guichard J, Adam M, Gougerot-Pocidalo MA, Cramer EM (September 2001). "Newly recognized cellular abnormalities in the gray platelet syndrome". Blood. 98 (5): 1382–91. PMID 11520786.
- ↑ 3.0 3.1 Nurden AT (April 2006). "Glanzmann thrombasthenia". Orphanet J Rare Dis. 1: 10. doi:10.1186/1750-1172-1-10. PMC 1475837. PMID 16722529.
- ↑ 4.0 4.1 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.
- ↑ Quiroga T, Goycoolea M, Matus V, Zúñiga P, Martínez C, Garrido M, Aranda E, Leighton F, Panes O, Pereira J, Mezzano D (December 2009). "Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays". Br. J. Haematol. 147 (5): 729–36. doi:10.1111/j.1365-2141.2009.07890.x. PMID 19775303.
- ↑ Jennings I, Woods TA, Kitchen S, Walker ID (August 2008). "Platelet function testing: practice among UK National External Quality Assessment Scheme for Blood Coagulation participants, 2006". J. Clin. Pathol. 61 (8): 950–4. doi:10.1136/jcp.2008.057174. PMID 18663056.
- ↑ 7.0 7.1 Cattaneo M, Lecchi A, Agati B, Lombardi R, Zighetti ML (November 1999). "Evaluation of platelet function with the PFA-100 system in patients with congenital defects of platelet secretion". Thromb. Res. 96 (3): 213–7. PMID 10588464.
- ↑ 8.0 8.1 Mammen EF, Comp PC, Gosselin R, Greenberg C, Hoots WK, Kessler CM, Larkin EC, Liles D, Nugent DJ (1998). "PFA-100 system: a new method for assessment of platelet dysfunction". Semin. Thromb. Hemost. 24 (2): 195–202. doi:10.1055/s-2007-995840. PMID 9579642.
- ↑ 9.0 9.1 Jilma B (September 2001). "Platelet function analyzer (PFA-100): a tool to quantify congenital or acquired platelet dysfunction". J. Lab. Clin. Med. 138 (3): 152–63. doi:10.1067/mlc.2001.117406. PMID 11528368.
- ↑ 10.0 10.1 Favaloro EJ (March 2001). "Utility of the PFA-100 for assessing bleeding disorders and monitoring therapy: a review of analytical variables, benefits and limitations". Haemophilia. 7 (2): 170–9. PMID 11260277.
- ↑ 11.0 11.1 Harrison P (December 2000). "Progress in the assessment of platelet function". Br. J. Haematol. 111 (3): 733–44. PMID 11122132.
- ↑ Hayward CP, Pai M, Liu Y, Moffat KA, Seecharan J, Webert KE, Cook RJ, Heddle NM (April 2009). "Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments". J. Thromb. Haemost. 7 (4): 676–84. doi:10.1111/j.1538-7836.2009.03273.x. PMID 19143930.
- ↑ BORN GV (June 1962). "Aggregation of blood platelets by adenosine diphosphate and its reversal". Nature. 194: 927–9. PMID 13871375.