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| CASE REPORT |
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| Year : 2013 | Volume
: 2
| Issue : 1 | Page : 58-59 |
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Glanzmann's thrombasthenia
Tenneti V D Sasi Sekhar, Sitaram Dugirrala, Sri Harsha Boppanna, Krishna Kanth Raavi
Department of General Medicine, Dr. PSIMS and RF, Chinnavutapalli, Vijayawada, Andhra Pradesh, India
| Date of Web Publication | 13-Mar-2013 |
Correspondence Address:
Krishna Kanth Raavi
Department of General Medicine, Dr. PSIMS and RF, Chinnavutapalli, Vijayawada, Andhra Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/2277-8632.108517
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 |
| Introduction | |  |
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 | | |
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.
| Discussion | | |
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 | | |
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[Figure 1], [Figure 2]
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