| Article Access Statistics|
| Viewed||5658 |
| Printed||98 |
| Emailed||3 |
| PDF Downloaded||0 |
| Comments ||[Add] |
| Cited by others ||1 |
Click on image for details.
|Year : 1980 | Volume
| Issue : 3 | Page : 210-2
Mehta BC, Agarwal MB, Bhanotra PC
|How to cite this article:|
Mehta B C, Agarwal M B, Bhanotra P C. Glanzmann's thrombasthenia. J Postgrad Med 1980;26:210
Thrombasthenia is a congenital platelet abnormality described by Glanzmann in 1918. The disease is one of the rarest of the congenital bleeding disorder. Only 130 cases were reported till 1969. It is characterised by impaired or absent clot retraction and failure of the platelets to aggregate with most of the known agents. We report four cases of Glanzmann's Thrombasthenia.
B.D., a 34 year old male patient presented with the history of recurrent epistaxis, easy post-traumatic bruising and spontaneous purpuric spots from early childhood. He never had hemarthrosis or bleeding from other orifices of the body. There was no history of surgery. His clinical examination was unremarkable.
Patient's father was dead but both parents had no history suggestive of any bleeding disorder. There was no history of consanguinity.
He had four siblings. A male sibling, 28 years old, had recurrent spontaneous and post-traumatic bleeding from gums from early childhood. It used to continue for 2-3 days. A female sibling, 24 years old, had excessive and prolonged menstrual bleeding. She had 2 full term deliveries and both were followed by severe post-partum hemorrhage. She had undergone appendicectomy needing 13 units of blood transfusion. Other 2 siblings had no significant history of bleeding. Patient had 2 children and both had no bleeding diathesis.
Hematological investigations of the patient showed haemoglobin of 15.0 gm.% and PCV of 45%. Total WBC count was 5600/c.mm. with P-60, L-39 and E-1. Platelet count was 2,54,000/ c.mm. The platelets in peripheral smear showed no clumping; their size and shape were normal. Bleeding time was more than 15 minutes. Clotting time was 3 minutes and prothrombin time was 14 seconds (control 13 seconds). Clot retraction was absent in 24 hours. Thromboplastin generation test showed platelet factor-3 deficiency. Thrombin time was 20 seconds (control 20 seconds); Stypven's time was 13.5 seconds (control 13.5 seconds), AHG level was 98%. Platelet aggregation studies with ADP, Epinephrine and Collagen showed complete lack of primary and secondary aggregation. This was done by using a platelet aggregometer.
Two of the 4 siblings, whose clinical details are described above were available for examination and investigations in January 1980. In addition, another patient, M.P. a 33 year old female was also proved to have Glanzmann's thrombasthenia. She was referred for bleeding from gums from early childhood, menorrhagia from 2 years, severe melena needing blood transfusion and a bout of hematuria. One of her 4 siblings had died following severe posttraumatic bleeding. She had occasional ecchymotic spots on the extremities from the first year of age.
Routine investigations such as hemogram, platelet shape and size, clotting time, partial thromboplastin time, thrombin time, Stypven's time, factor VIII and factor XIII were all normal in both the two siblings of the 1st case (B.D.) and in the second case (M.P.). Results of other investigations in the 2 siblings of the 1st case (B.D.) and in the 2nd case (M.P.) are shown in [Table 1].
Absence of hemarthrosis and muscular hematoma together with spontaneous purpuric spots at multiple occasions suggest a platelet disorder. The prolonged bleeding time, poor clot retraction and lack of clumping of platelets in the peripheral smear together with a normal platelet count were important clues in suspecting platelet aggregation defect which was subsequently confirmed by the platelet aggregation study. The long history and familial incidence were strongly in favour of a familial inherited disorder like Glanzmann's thrombasthenia as against acquired platelet dysfunction which is much more common.
A prolonged bleeding time in a patient whose platelet count is normal suggests platelet dysfunction. This may be due either to a qualitative platelet disorder or to a deficiency of a plasma factor necessary for some aspect of platelet function. The congenital qualitative platelet disorders are all rare but must be kept in mind in unusual cases.
As mentioned earlier, Glanzmann's thrombasthenia can be suspected by history together with peripheral smear examination as the clumps of platelets will be absent. Impaired platelet aggregation by ADP is the major functional defect. This could be due to deficiency of one of the membrane-specific platelet glycoprotein (type II), platelet fibrinogen, platelet actomyosinl or platelet bound IgG and IgM3 Decreased platelet content of ATP or decreased activity of the glycolytic enzymes are said to be responsible for defective clot retraction.
The disorders is inherited as an auto-som.al recessive disorder, begins early in life and epistaxis, easy bruising and postoperative bleeding necessitating transfusion are the commonest clinical features. Fatal haemorrhages are reported. The only available treatment is platelet transfusion.
We are thankful to Dr. C. K. Deshpande, Dean, K.E.M. Hospital for permission to publish this case. Part of the work was supported by the grants given by the research society, Seth G.S. Medical College and K.E.M. Hospital.
|1.||Booyse, F., Kisieleski, D., Seeler, R. and Fafelson, M. Jr.: Possible thrombasthenin defect in Glanzmann's thrombasthenia. Blood, 39: 377-381, 1972. |
|2.||Nurden, A. T. and Caen, J. P.: An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Brit. J. Haematol., 28: 253-260,1974, |
|3.||Taylor, F. B. and Zucker, M. B.: Prolonged clot lysis time and absence of platelet yM-globulin in patients with thrombasthenia. Nature, 222: 99, 1909. |
|4.||Weise, H. J. and Kochwa, S.: Studies of platelet function and proteins in three patients with Glanzmann's Thrombasthenia. J. Lab. and Clin. Med., 71: 153-165, 1968. |
|5.||Williams, W. J., Beutler, E., Ersler, A. J. and Rundles, R. W.: Disorders of Hemostasis. In, "Hematology", McGraw-Hill, 2nd Edition, New York, 1977, pp. 1368-1376. |