- Glanzmann's thrombasthenia
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 5224
ICD10 = ICD10|D|69|1|d|65
ICD9 = ICD9|287.1
ICDO =
OMIM = 187800
OMIM_mult = OMIM2|273800 | MedlinePlus =
eMedicineSubj = med
eMedicineTopic = 872
MeshID = D013915Glanzmann's thrombasthenia is an extremely rare disorder of the
blood , in which theplatelet s lackglycoprotein IIb/IIIa . Hence, nofibrinogen bridging can occur, and bleeding time is significantly prolonged.Pathophysiology
Glycoprotein IIb/IIIa is an adhesion receptor and is expressed inthrombocytes . This receptor is activated when the thrombocyte is stimulated by ADP,epinephrine ,collagen andthrombin . TheGpIIb/IIIa integrin is essential to theblood coagulation since it has the ability to bindfibrinogen , thevon Willebrand factor ,fibronectin andvitronectin . 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 powerfulantiplatelet agent s.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]Cause
Glanzmann's thrombasthenia can be inherited in an
autosomal recessive manner or acquired as anautoimmune 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=]Clinical Features
Characteristically, there is increased mucosal bleeding:
*epistaxis
*menorrhagia
*increased bleeding post-operatively.The bleeding tendency is variable but may be severe.Patients present with moderate
bleeding and normal platelet morphology.Aggregation of platelets occurs in response toristocetin , but not to other agonists such as ADP,thrombin ,collagen orepinephrine .Eponym
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.]
References
ee also
*
Coagulation
*Blood diseases
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