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Glanzmann's thrombasthenia

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Title: Glanzmann's thrombasthenia  
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Subject: Bleeding diathesis, Bernard–Soulier syndrome, Hematologic disease, Bleeding time, Congenital afibrinogenemia
Collection: Autosomal Recessive Disorders, Coagulopathies, Rare Diseases
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Glanzmann's thrombasthenia

Glanzmann's thrombasthenia
Classification and external resources
ICD-10 D69.1
ICD-9-CM 287.1
OMIM 187800 273800
DiseasesDB 5224
MedlinePlus 001305
eMedicine med/872
MeSH D013915

Glanzmann's thrombasthenia is an abnormality of the platelets.[1] It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly prolonged.

Contents

  • Signs and symptoms 1
  • Cause 2
  • Pathophysiology 3
  • Treatment 4
  • Eponym 5
  • See also 6
  • References 7
  • External links 8

Signs and symptoms

Characteristically, there is increased mucosal bleeding:[2]

The bleeding tendency is variable but may be severe. Hemarthrosis, particularly spontaneous, is very rare, in contrast to the hemophilias.

Platelet numbers and morphology are normal. Platelet aggregation is normal with ristocetin, but impaired with other agonists such as ADP, thrombin, collagen or epinephrine.

Laboratory findings in various platelet and coagulation disorders( - )
Condition Prothrombin time Partial thromboplastin time Bleeding time Platelet count
Vitamin K deficiency or warfarin Prolonged Normal or mildly prolonged Unaffected Unaffected
Disseminated intravascular coagulation Prolonged Prolonged Prolonged Decreased
Von Willebrand disease Unaffected Prolonged or unaffected Prolonged Unaffected
Hemophilia Unaffected Prolonged Unaffected Unaffected
Aspirin Unaffected Unaffected Prolonged Unaffected
Thrombocytopenia Unaffected Unaffected Prolonged Decreased
Liver failure, early Prolonged Unaffected Unaffected Unaffected
Liver failure, end-stage Prolonged Prolonged Prolonged Decreased
Uremia Unaffected Unaffected Prolonged Unaffected
Congenital afibrinogenemia Prolonged Prolonged Prolonged Unaffected
Factor V deficiency Prolonged Prolonged Unaffected Unaffected
Factor X deficiency as seen in amyloid purpura Prolonged Prolonged Unaffected Unaffected
Glanzmann's thrombasthenia Unaffected Unaffected Prolonged Unaffected
Bernard-Soulier syndrome Unaffected Unaffected Prolonged Decreased or unaffected
Factor XII deficiency Unaffected Prolonged Unaffected Unaffected
C1INH deficiency Unaffected Shortened Unaffected Unaffected

Cause

Glanzmann's thrombasthenia can be inherited in an autosomal recessive manner[2][3] or acquired as an autoimmune disorder.[2][4]

The bleeding tendency in Glanzmann's thrombasthenia is variable,[2] some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. Moreover, platelet αIIbβ3 levels correlate poorly with hemorrhagic severity, as virtually undetectable αIIbβ3 levels can correlate with negligible bleeding symptoms, and 10%–15% levels can correlate with severe hemorrhage.[5] Unidentified factors other than the platelet defect itself may have important roles.[2]

Pathophysiology

Glanzmann's thrombasthenia is associated with abnormal glycoprotein IIb/IIIa (GpIIb/IIIa), also known as αIIbβ3, which is an integrin aggregation receptor on platelets. This receptor is activated when the platelet is stimulated by ADP, epinephrine, collagen, or thrombin. GpIIb/IIIa is essential to blood coagulation since the activated receptor has the ability to bind fibrinogen (as well as von Willebrand factor, fibronectin, and vitronectin), which is required for fibrinogen-dependent platelet-platelet interaction (aggregation).

In contrast, glycoprotein Ib receptors are normal with Glanzmann's thrombasthenia. The role of GpIb is to enable platelet activation by contact with the von Willebrand factor-collagen complex that is exposed when the endothelial blood vessel lining is damaged.

Understanding of the role of GpIIb/IIIa in Glanzmann's thrombasthenia led to the development of GpIIb/IIIa inhibitors, a class of powerful antiplatelet agents.[3]

Treatment

Therapy involves both preventive measures and treatment of specific bleeding episodes.[2]

Eponym

It is named after Eduard Glanzmann (1887-1959), the Swiss pediatrician who originally described it.[7][8][9]

See also

References

  1. ^ "Glanzmann thrombasthenia" at Dorland's Medical Dictionary
  2. ^ a b c d e f Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1933-1941) Williams Hematology. McGraw-Hill.ISBN 978-0071621519
  3. ^ a b Seligsohn U (2002). "Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents" (PDF). Pathophysiol. Haemost. Thromb. 32 (5-6): 216–7.  
  4. ^ Tholouli E, Hay CR, O'Gorman P, Makris M (2004). "Acquired Glanzmann's thrombasthenia without thrombocytopenia: a severe acquired autoimmune bleeding disorder". Br. J. Haematol. 127 (2): 209–13.  
  5. ^ Nurden, A. T. (2006). "Glanzmann thrombasthenia". Orphanet Journal of Rare Diseases 1: 10.  
  6. ^ F.Z. Elmouatarif, B. Badre, S. Elarabi (2013). "Thrombasthénie de Glanzmann". Le courrier du dentiste. 
  7. ^ synd/1289 at Who Named It?
  8. ^ Glanzmann, WE (1918). "Hereditäre hämorrhagische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen.[Hereditary haemorrhagic thrombasthenia. A contribution to the pathology of platelets] (German)". Jahrbuch für Kinderheilkunde [Yearbook of Pediatrics] 88 (1-42): 113–141. 
  9. ^ Kannan, M.; Saxena, R. (2009). "Glanzmann's thrombasthenia: an overview". Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 15 (2): 152–165.  

External links

  • Internet database of mutations giving rise to Glanzmann's thrombasthenia: [1]
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