Glanzmann's thrombastenia

Alternative eponyms

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A rare congenital abnormality of blood platelets, characterized by easy bruising and excessive bleeding after trauma and epistaxis.

Description

A rare congenital abnormality of blood platelets, characterized by easy bruising and excessive bleeding after trauma and epistaxis. The platelet membrane lacks specific glycoproteins Iib and IIIa which are the receptor of fibrinogen. Bleeding is prologed, clot retraction is diminished, and platelets do not aggregate during blood coagulation or after addition of ADP (adenosine diphosphate).

Inheritance is mostly autosomal recessive, but some cases are known to be transmitted as an autosomal dominant trait. An acquired form is seen particularly in malignant systemic diseases and uraemia. Both sexes affected; onset from birth. May be asymptomatic until trauma or surgical procedures make condition evident.

Bibliography

  • W. E. Glanzmann:
    Hereditäre hämorrhägische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen.
    Jahrbuch für Kinderheilkunde, 1918; 88: 1-42, 113-141.
  • L. Revol:
    Nouveau type de dysmorphie thrombocytaire. La diacyclothrombopathie.
    Lyon médical, 1950, 183: 213–218. li>D. Alagille, J. L. Binet, M. L. Blin:
    La dystrophie thrombocytaire hemorragipare. Discussion nosologique.
    Nouvelle revue francaise d'hématologie, Paris, 1964, 755–790.
  • J. P. Caen, P. A. Castaldi, J. C. Leclrec, S. Inceman, M. J. Larrieu, M. Probst, J. Bernard:
    Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann's thrombasthenia (report of 15 patients).
    American Journal of Medicine, New York, 1966, 41: 4–26.

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