Genetic platelet disorder resulting in blood clotting
disorder and hemorrhage. Life-threatening condition under stress (e.g.,
Athrombocytopenic Purpura; Congenital Hemorrhagic
Thrombocytic Dystrophy; Glanzmann Syndrome; Glanzmann-Nägeli Syndrome;
Glycoprotein IIb (GPIIb/III) Complex Deficiency; Hemorrhagic Thrombasthenia;
Hereditary Thrombasthenia; Hereditary Thrombocytopenic Purpura; Nägeli
Syndrome II; Platelet Fibrinogen Receptor Deficiency; Platelet Glycoprotein
IIb/III Deficiency; Révol Syndrome; Thrombasthenia; Thrombocytasthenia;
Eduard Glanzmann (1887-1959) was a Swiss pediatrician, Otto
Nägeli (1871-1938) was a Swiss hematologist.
Rare. Approximately 200 cases reported.
Autosomal recessive disorder in one of two
genes of chromosome 17, either GPIIb (or integrin αIIb) or GPIIIa
(or integrin αIIbβ3), where GP indicates glycoprotein.
Genetic mutations split equally between GPIIb and GPIIIa. Some cases are
suspected to be transmitted as an autosomal dominant trait.
In platelets, GPIIb and GPIIIa are joined together
as a dimer (referred to as GPIIb/IIIa). Once activated, GPIIb/IIIa binds to
one end of fibrinogen (and/or von Willebrand factor), while another
platelet, with its own GPIIb/IIIa, can bind to the other extremity of the
fibrinogen, thus leading to a large aggregation of bound platelets
(so-called white blood clot). In patients with Glanzmann thrombasthenia,
GPIIb/IIIa is defective and platelets cannot aggregate; no blood clot is
formed and bleeding does not stop.
Normal to increased platelet count, giant platelets,
absent platelet surface thrombosthenin, prolonged bleeding time, poor clot
retraction, and absent platelet aggregation. Adenosine diphosphate-induced
platelet aggregation does not occur.
Bleeding diathesis, petechiae, anemia. Two forms
described: type I (severely affected patients, especially girls at time of
menarche) and type II (mild form).
Check CBC. Ensure platelet
availability. Check for platelet antibodies.
Avoid central neuraxial anesthetics.
Anticipate need for platelet transfusion. Platelet transfusions must be
restricted to serious bleeding because antibodies against platelets can
develop (and would compromise the vital prognosis in case of further
bleeding). Postoperative bleeding may be severe. Perioperative treatment with recombinant
FVIIa supplements has proven to be safe and efficient.
Avoid use of antiplatelet drugs such
as acetylsalicylic acid.
Bernard-Soulier Syndrome: Autosomal recessive bleeding disorder
with low platelet count and bleeding out of proportion to the reduced platelet count.
Wiskott-Aldrich Syndrome: X-linked recessive disorder with
altered platelets, bleeding disorder, and susceptibility to infections as a
consequence of Band T-cell immunodeficiencies.
Marchant W, Mallet S: Platelet function assessment in Glanzmann's
thrombasthenia. Br J Anaesth
Poon MC, D'Oiron R, von Depka M, et al: Prophylactic and therapeutic recombinant factor
VIIa administration to patients with Glanzmann's thrombasthenia: results of an
international survey. J Thromb Haemost 2;1096, 2004.
Tomiyama Y: Glanzmann thrombasthenia: Integrin alpha IIb beta 3 deficiency.
Int J Hematol