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CASE REPORT
Year : 2013  |  Volume : 2  |  Issue : 1  |  Page : 58-59

Glanzmann's thrombasthenia


Department of General Medicine, Dr. PSIMS and RF, Chinnavutapalli, Vijayawada, Andhra Pradesh, India

Date of Web Publication13-Mar-2013

Correspondence Address:
Krishna Kanth Raavi
Department of General Medicine, Dr. PSIMS and RF, Chinnavutapalli, Vijayawada, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2277-8632.108517

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  Abstract 

Glanzmann's thrombasthenia is a rare medical condition with only 300 cases reported in medical literature. It is an autosomal recessive platelet disorder. Patients usually present with mucocutaneous bleeding and excessive bleeding associated with trauma and/or surgery. We are reporting one such rare case of Glanzmann thrombasthenia.

Keywords: Bleeding disorder, glycoprotein IIb/IIIa complex, platelet aggregation


How to cite this article:
Sasi Sekhar TV, Dugirrala S, Boppanna SH, Raavi KK. Glanzmann's thrombasthenia. J NTR Univ Health Sci 2013;2:58-9

How to cite this URL:
Sasi Sekhar TV, Dugirrala S, Boppanna SH, Raavi KK. Glanzmann's thrombasthenia. J NTR Univ Health Sci [serial online] 2013 [cited 2020 Mar 29];2:58-9. Available from: http://www.jdrntruhs.org/text.asp?2013/2/1/58/108517


  Introduction Top


Glanzmann's thrombasthenia (GT) is named after the doctor who first identified it. In 1918, Dr Eduard Glanzmaan found it in children living in a village in the Swiss Alps. [1] The children had normal platelet counts but large bruises on their bodies. It is characterized by genetic platelet disorder in which the platelet glycoprotein IIb/IIIa complex is either deficient or present but dysfunctional. The genes of both of these proteins are on chromosome 17, and 50% activity of each protein is enough to support normal platelet aggregation. Defects in the GP IIb/IIIa complex leads to defective platelet aggregation and subsequent bleeding. [2],[3]


  Case Report Top


An 18-year-old boy presented with history of gum bleed, prolonged skin bleeding to trivial trauma. Bleeding problems were first noticed by his mother at the age of 1 year. At his neonatal period he developed jaundice and was managed by phototherapy, attained normal developmental milestones. Born to second degree consanguineous parents, elder brother is 23 years old and is deaf. No family history of significant bleeding tendency. On examination ecchymotic patches were visible around the nipple [Figure 1] and over upper arms [Figure 2]. No active gum bleeding. Systemic examination was normal. Laboratory studies revealed upper limit of bleeding time (BT), clotting time (CT), prothrombin time (PT), activated partial thromboplastin time (APTT), platelet count, peripheral smear were normal. Anti-neutrophil cytoplasmic antibody (ANCA) IgG negative. Platelet aggregometry interpretation was suggestive of GT.
Figure 1: Ecchymotic patch around the nipple

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Figure 2: Ecchymotic patch over right upper arm

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  Discussion Top


Patient with GT usually present in infancy or early childhood with signs and symptoms of bleeding following trivial trauma. [4] Typically, in our case the mother first noticed bruising of skin after vaccination indicating bleeding from the puncture site. Gingival bleeding common in GT is absent in this case, but echymotic patches over the pressure areas are indicative of exaggeration of normal bleeding phenomenon.

Hemarthrosis, hematuria, intramuscular hematomas, which are common in coagulopathies, and spontaneous diffuse petechiae common in thrombocytopenic disorders are absent in this case supporting the possibility of platelet aggregation disorders. Patients with GT have normal CT, PT, APTT, platelet count with normal platelet morphology but have a prolonged BT. Platelet aggregometry is confirmatory for GT in this case with absence of aggregation with epinephrine, collagen and arachidonic acid and adenosine diphosphate and normal aggregate in presence of risotectin. [5],[6]

GT is an autosomal recessive pattern of inheritance. It is more commonly seen in families with consanguineous marriages and hence reported from countries like Israel, Jordan, and south India. [7],[8],[9] Heterozygotes are asymptomatic and platelet studies are normal in them [10],[11] and this may be the reason for his sibling to be asymptomatic as in our case. The severity of bleeding is unpredictable and unrelated to amount of GP IIb/IIIa complexes and hence classification of GT into subgroups based on these criteria is often of little clinical importance.

The Three Subcategories:

Type 1 - Level of glycoprotein IIb/IIIa less than 5% of normal.

Type 2 - Level of Glycoprotein IIb/IIIa between 5% and 20% of normal.

Type 3 - Level of Glycoprotein IIb/IIIa of more than 50% normal, however, major abnormalities in the way platelets aggregate.

It is important to anticipate risks and to prevent bleeding with use of platelet transfusions wherever necessary. Local bleeding should always be controlled by local measures like nasal packings. With careful supportive care of patients, many episodes of serious hemorrhage can be prevented and recurrent bleeding can be controlled. The prognosis for patients with GT is good. They usually lead a normal and active life.

 
  References Top

1.Sebastiano C, Bromberg M, Breen K, Hurford MT. Glanzmann's thrombasthenia: Report of a case and review of the literature. Int J Clin Exp Pathol 2010;3:443-7.  Back to cited text no. 1
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2.French DL. The molecular genetics of Glanzmann's thrombasthenia. Platelets 1998;9:5-20.  Back to cited text no. 2
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3.Nurden AT. Inherited abnormalities of platelets. Thromb Haemost 1999;82:468-80.  Back to cited text no. 3
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4.George JN, Caen JP, Nurden AT. Glanzmann's thrombasthenia:The spectrum of clinical disease. Blood 1990;75:1383-95.  Back to cited text no. 4
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5.Zucker MB, Pert JH, Hilgartner MW. Platelet function in a patient with thrombasthenia. Blood 1966;28:524-34.  Back to cited text no. 5
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6.Weiss HJ, Kochwa S. Studies of platelet function and proteins in three patients with Glanzmann's thrombasthenia. J Lab Clin Med 1968;71:153-65.  Back to cited text no. 6
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7.Khanduri U, Pulimood R, Sudarsanam A, Carman RH, Jadhav M, Pereira S. Glanzmann's thrombasthenia. A review and report of 42 cases from South India. Thromb Haemost 1981;46:717.  Back to cited text no. 7
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8.Awidi AS. Increased incidence of Glanzmann's thrombasthe- nia in Jordan compared with Scandinavia. Scand J Haematol 1983;30:218.  Back to cited text no. 8
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9.Seligsohn U, Rososhansky S. A Glanzmann's thrombasthenia cluster among Iraqi Jews in Israel. Thromb Haemost 1984;52:230.   Back to cited text no. 9
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10.Perutelli P, Mori PG. Biochemical and molecular basis of Glanzmann's thrombasthenia. Haematologica 1992;77:421-6  Back to cited text no. 10
    
11.Caen JP. Glanzmann's thrombasthenia. Baillieres Clin Haematol 1989;2:609-25.  Back to cited text no. 11
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    Figures

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