DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20210132

Type-1 Glanzmann’s thrombasthenia: a rare cause of epistaxis in a child

Saumil M. Patel, Rekha Thaddanee, Ajeet Kumar Khilnani, Gurudas Khilnani

Abstract


Glanzmann’s thrombasthenia (GT) is a rare genetic platelet surface disorder of glycoprotein IIb/IIIa receptor presenting with muco-cutaneous bleeding of varying severity. We are reporting an unusual case of a child presenting with recurrent epistaxis with prolonged bleeding time, moderate thrombocytopenia and giant platelet size. GT was suspected because the platelet aggregation was abnormal with adenosine diphosphate, epinephrine, collagen, and thrombin; but normal with ristocetin. Diagnosis was confirmed by flow cytometry which showed deficiency of platelet membrane receptors CD 41 (Gp IIb) and CD 61 (GpIIIa) with normal expression of CD 42b (GpIb). Platelets transfusions and antifibrinolytics were given to manage bleeding. Due to repeat platelets transfusions patients with GT can develop anti-platelet antibodies for which rFVIIa (recombinant activated factor VII) is effective. Definitive treatment includes stem cell transplant or gene therapy.


Keywords


Epistaxis, Glanzmann’s thrombasthenia, Platelet transfusion

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References


Glanzmann E. Hereditaire Hamorrhagische thrombasthenic. Ein Beitrag Zur Pathologie der Blutplattchen. Jahrbuch Kinderheilkde. 1918;88:1-42.

Nurden AT, Caen JP. Specific roles for surface membrane glycoproteins in platelet function. Nature. 1975;255:720-2.

George JN, Caen JP, Nurden AT. Glanzmann’s thrombasthenia: The spectrum of clinical disease. Blood. 1990;75:1383-95.

Nurden AT, Pillois X, Nurden P. Understanding the genetic basis of Glanzmann thrombasthenia: Implications for treatment. Exp Rev Hematol. 2012;5:487-503.

Caen JP, Castaldi PA, Lecrec JC, Insmann S, Larrieu MJ, Probst M, et al. Congenital bleeding disorders with long bleeding time and normal platelet count. 1. Glanzmann's thrombasthenia (report of fifteen patients). Am J Med. 1966;41:4-26.

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.

Pillitteri D, Pilgrimm AK, Kirchmaier CM. Novel mutations in the GPIIb and GPIIIa genes in Glanzmann Thrombasthenia. Transfus Med Hemother. 2010;37(5):268-77.

Santoro C, Rago A, Biondo F. Prevalence of allo-immunization anti-HLA and anti-integrin alphallb beta3 in Glanzmann’s thrombasthenia patients. Haemophilia. 2010;16(5):805-12.

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. 2004;2(7):1096-103.

Nurden AT, Pillois X, Wilcox DA. Glanzmann thrombasthenia: state of the art and future directions. Semin Thromb Hemost. 2013;39(6):642-55.