- Glanzmann's thrombasthenia
Name = PAGENAME
DiseasesDB = 5224
ICD10 = ICD10|D|69|1|d|65
ICD9 = ICD9|287.1
OMIM = 187800
OMIM_mult = OMIM2|273800 | MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 872
MeshID = D013915
Glanzmann's thrombasthenia is an extremely rare disorder of the
blood, in which the platelets lack glycoprotein IIb/IIIa. Hence, no fibrinogenbridging can occur, and bleeding time is significantly prolonged.
Glycoprotein IIb/IIIais an adhesion receptor and is expressed in thrombocytes. This receptor is activated when the thrombocyte is stimulated by ADP, epinephrine, collagenand thrombin. The GpIIb/IIIa integrinis essential to the blood coagulationsince it has the ability to bind fibrinogen, the von Willebrand factor, fibronectinand vitronectin. This enables the platelet to be activated by contact with the collagen-von Willebrand-complex that is exposed when the endothelial blood vessel lining is damaged and then aggregate with other thrombocytes via fibrinogen.
Patients suffering from Glanzmann's thrombasthenia thus have platelets less able to adhere to each other and to the underlying tissue of damaged blood vessels.
The understanding of its pathophysiology led to the development of
GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents.cite journal |author=Seligsohn U |title=Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents |journal=Pathophysiol. Haemost. Thromb. |volume=32 |issue=5-6 |pages=216–7 |year=2002 |pmid=13679645 |doi=10.1159/000073569 |url=http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=73569&ProduktNr=224034&Ausgabe=229381&filename=73569.pdf |format=PDF]
Glanzmann's thrombasthenia can be inherited in an
autosomal recessivemanner or acquired as an autoimmune disorder. [cite journal |author=Tholouli E, Hay CR, O'Gorman P, Makris M |title=Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder |journal=Br. J. Haematol. |volume=127 |issue=2 |pages=209–13 |year=2004 |pmid=15461628 |doi=10.1111/j.1365-2141.2004.05173.x |url=]
Characteristically, there is increased mucosal bleeding:
*increased bleeding post-operatively.The bleeding tendency is variable but may be severe.
Patients present with moderate
bleedingand normal platelet morphology. Aggregationof platelets occurs in response to ristocetin, but not to other agonists such as ADP, thrombin, collagenor epinephrine.
It is named for Eduard Glanzmann. [WhoNamedIt|synd|1289] [W. E. Glanzmann. Hereditäre hämorrhägische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen. Jahrbuch für Kinderheilkunde, 1918; 88: 1-42, 113-141.]
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