Asim Javed, Muhammad Ayyub, S Abrar, M Mansoor, Badshah Khan, T Hussain


lanzmann’s thrombasthenia is an autosomal recessive inherited platelet function defect. Though,
quantitatively normal, the aggregation ability of platelets is reduced leading to bleeding episodes
requiring transfusion of platelet concentrates. We describe a case of 13-year-old girl who had
recurrent episodes of epistaxis since birth and was managed with multiple platelet concentrate
transfusions and recently admitted with severe epistaxis refractory to platelet transfusion. At this
stage administration of recombinant activated factor VII (fVIIa) was considered, which was
initially given at 90 µg/kg dose with little control of bleeding but subsequent second dose of 120
µg/kg was administered with excellent response and immediate control of bleeding.
Keywords: Glanzmann’s thrombasthenia, autosomal recessive, platelet disorder, recombinant
factor VIIa, epistaxis


Glanzmann E. Hereditare hamorrhagische thrombasthenie.

Ein Beitrag zur Pathologie der Blutplattchen. J

Kinderkranken 1918;88:113.

Wilcox DA, Wauthier JL, Pidard D, Newman PJ. A single

amino acid substitution flanking the fourth calcium binding

domain of αIIb prevents maturation of the αIIbβ3 complex. J

Biol Chem 1994;269:4450–7.

Ruiz C, Liu CY, Sun QH, Sigaud-Fiks M, Fressinaud E,

Muller JY, et al. A point mutation in the cysteine-rich

domain of glycoprotein (GP) IIIa results in the expression of

a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high

affinity state and a Glanzmann thrombasthenia-like

phenotype. Blood 2001;98:2432–41.

George JN, Caen JP, Nurden AT. Glanzmann's

thrombasthenia: The spectrum of clinical disease. Blood


Nurden AT, George JN. Inherited abnormalities of the

platelet membrane: Glanzmann thrombasthenia, BernardSoulier syndrome, and other disorders. In: RW Colman, VJ

Marder, AW Clowes, JN George, SZ Goldhaber. (eds).

Hemostasis and Thrombosis, Basic Principles and Clinical

J Ayub Med Coll Abbottabad 2009;21(2) 173

Practice. 4th edition. Philadelphia: Lippincott, Williams &

Wilkins; 2005. p.987–1010.

Bellucci S, Caen J. Molecular basis of Glanzmann’s

thrombasthenia and current strategies in treatment. Blood

Rev 2002;16:193–202.

Martlew VJ. Peri-operative management of patients with

coagulation disorders. Br J Anaesth 2000;85:446–55.

Monte S, Lyons G. Peripartum management of a patient with

Glanzmann’s thrombasthenia using Thrombelastograph. Br J

Anaesth 2001;87:734–8.

Martin I, Kriaa F, Proulle V, Guillet B, Kaplan C, D’Oiron R,

et al. Protein A Sepharose immunoadsorption can restore the

efficacy of platelet concentrates in most patients with

Glanzmann's thrombasthenia and anti-glycoprotein IIb-IIIa

antibodies.Br J Haematol 2002;119:991–7.

Ito K, Yoshida H, Hatoyama H, Matsumoto H, Ban C, Mori

T, et al. Antibody removal therapy used successfully at

delivery of a pregnant patient with Glanzmann's

thrombasthenia and multiple anti-platelet antibodies. Vox

Sang 1991;61:40–6.

Poon MC, D'Oiron R, Von Depka M, Khair K, Negrier C,

Karafoulidou A, et al. International Data Collection on

Recombinant Factor VIIa and Congenital Platelet Disorders

Study Group: Prophylactic and therapeutic recombinant

factor VIIa administration to patients with Glanzmann's

thrombasthenia: results of an international survey. J Thromb

Haemost 2004;2:1096–1103.

Bellucci S, Devergie A, Gluckman E, Tobelem G,

Lethielleux P, Benbunan M, et al. Complete correction of

Glanzmann's thrombasthenia by allogeneic bone-marrow

transplantation. Br J Haematol 1985;59:635–41.

Fujimoto TT, Kishimoto M. Glanzmann thrombasthenia with

acute myeloid leukemia successfully treated by bonemarrow

transplantation. Int J Hematol 2005;81(1):77–80.

Hoffman M. A cell-based model of hemostasis. Blood Rev


Monroe DM, Hoffman M, Oliver JA, Roberts HR. Platelet

activity of high dose factor VIIa is independent of tissue

factor. Br J Haematol 1997;99:542–7.


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