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LEADING ARTICLE
Year : 1997  |  Volume : 4  |  Issue : 1  |  Page : 57-61  

Glanzmann's thrombasthenia-spectrum of clinical presentation on Saudi patients in the eastern province


1 Department of Hematology, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia
2 Department of Orthopaedics, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia
3 Department of Paediatrics, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia

Date of Web Publication31-Jul-2012

Correspondence Address:
Abdullah AI-Othman
P.O. Box 2845, Al-Khobar 31952
Saudi Arabia
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Source of Support: None, Conflict of Interest: None


PMID: 23008567

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   Abstract 

Introduction : Glanzmann's thrombasthenia is a rare inherited hemorrhagic disorder characterized by abnormal platelet function. It usually presents with subcutaneous bleeding and bleeding from the mucous membranes.
Objectives : The aim of the study is to find out the clinical presentation of Glanzmann's thrombosthenia in Saudi patients, Eastern Province. Methods: In this report we have reviewed the clinical presentation of sixteen Saudi patients suffering from this disorder presented at King Fahd Hospital of the University in AI-Khobar over a period of eleven years.
Results: We have noticed similarity in the frequency of the various symptoms with those reported in the literature except for the apparently more frequent hemarthrosis in our patients which mimics hemophilia.
Conclusion : The spectrum of clinical presentations with Glanzmann's throm­bosthenia appears to be wide and the occurrence of the various symptoms var­ies. Moreover, some of the presenting features tend to mimic those of hemophilia, a situation which, in some cases, has resulted in unnecessary treatment with Factor VIII-containing blood components.

Keywords: Glanzmann′s thrombosthenia, clinical presentation, hemarthrosis.


How to cite this article:
AI-Barghouthi SK, AI-Othman A, Lardhi A. Glanzmann's thrombasthenia-spectrum of clinical presentation on Saudi patients in the eastern province. J Fam Community Med 1997;4:57-61

How to cite this URL:
AI-Barghouthi SK, AI-Othman A, Lardhi A. Glanzmann's thrombasthenia-spectrum of clinical presentation on Saudi patients in the eastern province. J Fam Community Med [serial online] 1997 [cited 2021 Sep 27];4:57-61. Available from: https://www.jfcmonline.com/text.asp?1997/4/1/57/98505


   Introduction Top


Glanzmann's thrombasthenia (GT) is a rare hemorrhagic disorder characterized by abnormal platelet function. It is inherited as an autosomal recessive trait [1] and has been observed in both sexes equally. The disorder has certain epidemiologic predi­lection, being more common in Jordan, India and Saudi Arabia and among the Iraqi-Jews and Arabs living in Israel, [2],[3],[4],[5] as compared to other parts of the world. The possible cause of this uneven geographic distribution is the frequent occurrence of intermarriage in these regions, allowing the expression of autosomal recessive traits.

In this report we present the clinical findings in Saudi patients with Glanzmann's thrombosthenia seen at King Fahd Hospital of the University in Al-Khobar over the period between January 1983 and December 1993.


   Material and Methods Top


The charts of twenty-three patients with the diagnosis of Glanzmann's thrombasthenia were reviewed. Six patients were excluded because of inadequate clinical data and one more was excluded because of being a non-­Saudi. The remaining sixteen Saudi pa­tients constitute the subject of this paper. Clinical data, including family history and clinical examination, were recorded for each patient. The laboratory investigations included: peripheral blood counts; platelet count, using "Coulter Counter STKS, Hialeah, Florida, USA"; bleeding time, using Ivy's method; prothrombin time; ac­tivated partial thromboplastin time; thrombin time; clot retraction; and platelet aggregation using adenosine diphosphate (ADP), collagen, adrenaline, arachidonic acid and ristocetin. X-ray examination of the involved joints was performed when­ever hemarthrosis was suspected. The di­agnosis of GT was based on normal platelet count, prothrombin time, partial thromboplastin time, thrombin times, prolonged bleeding time, defective clot retraction, and lack of platelet aggregation response to ADP, collagen, adrenaline, and arachidonic acid. Facilities for the analysis of platelet glycoproteins were not available. Review of the patients' charts was carried out to identify the sex, age at presentation, severity and sites of bleeding, family his­tory, including parents' consanguinity, and laboratory findings, including coagulation profiles.


   Results Top


All sixteen patients presented at an age of less than 15 years, the age range was from birth to 14 years. Male-to-female ratio was 1.3:1. Positive history of first degree con­sanguinity was observed in 93% (15/16) of the patients. Of these patients 75% (12/16) had a family history of bleeding tendency.

Clinically they showed a wide range of bleeding tendencies. The consistent symp­toms were epistaxis, gingival bleeding, and subcutaneous bruises. Gastrointestinal bleeding in the form of hematemesis and melena was frequent, while muscle in­volvement, hematuria and hemoptysis were less frequent. [Table 1] summarizes the inci­dence of the various symptoms in the study group.
Table 1: Incidence of various symptoms

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In all cases the results of laboratory in­vestigations showed normal platelet count, prothrombin time, partial thromboplastin time and thrombin time. Bleeding time was prolonged in all patients with an average of 19.8 minutes; clot retraction and aggrega­tion with ADP, collagen, adrenaline, and arachidonic acid were defective in all pa­tients. The diagnosis of hemarthrosis was done clinically, X-rays for the involved joints revealed effusion [Figure 1], and the knee aspirated in 2 patients. The analysis of platelet glycoproteins was not performed due to lack of respective facilities.
Figure 1: X-ray showing hemarthrosis in the knee joint

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   Discussion Top


Glanzmann's thrombosthenia appears to be the second commonest inherited bleeding disorder among Saudis in the Eastern Provinces It commonly presents with bleeding tendency which begins during the neonatal period of the first weeks of life and early childhood. [5],[6],[7]

Geographical distribution of GT is un­even, the incidence being high in areas with frequent occurrence of intermarriage. The rate of consanguinity in the current study (93%) seems to be close to that re­ported before (100%) in patients with Glanzmann's thrombosthenia in Eastern Saudi Arabia [5] as compared to those re­ported in other studies i.e., in 67% of 84 patients and in 39% of 64 patients reported in Paris. [7]

Our study group has shown slight male predominance (56%) as compared to slight female predominance in previous reports which revealed 53% in 113 patients and 66% in 64 patients. [7] This is not significant as GT is an autosomal recessive disease.

Although purpura, epistaxis, gingival bleeding and menorrhagia are nearly con­stant features, epistaxis is the most com­mon cause of severe bleeding in GT. It is typically more severe in children than in adults. It occurred in 88% of our patients. Easy bruising is the next most common manifestation in our study, occurring in 75% of the patients. These findings are similar to those reported by George et al where epistaxis occurred in 73% and pur­pura in 86% of their patients. [7] Gingival bleeding was observed in a higher percent­age of our patients (71%) as compared to 55% in the series of George et al. [7] How­ever, poor dental hygiene might have con­tributed to the increased prevalence of gingival bleeding in our patients.

Menorrhagia was found to occur in only 57% of our female patients while it has been reported as the most common feature in the group of George et al, occurring in 98% of their female patients. [7] It has also been reported by others to be one of the most common and most serious bleeding tendencies necessitating repeated blood transfusions. [8],[9]

The lower incidence of menorrhagia in our patients could be explained by their younger age at presentation, since all of them presented at age < 15 years and their age of menarche was not recorded. It is important to note that endoscopy was rarely performed on our patients to verify this bleeding tendency.

Hematuria was reported in three of our patients (19%) which appears to be higher than reported elsewhere, [7] while hemoptysis occurred in only one patient (6%).

Hemarthrosis, predominantly occurring in the knee, was relatively common in our group (19%) and it was provisionally at­tributed to hemophilia in the male patients by the referring physicians. It is more common than reported in the literature, where it was said to occur in 5/177 (3%) of the group studied by George et al and in 1/64 (1.6%) of the patients studied previ­ously in Paris by the same authors, [7] in 1/50 (2%) of the patients reviewed by Caen, [10] and in none of the 20 patients of Agarwal and associate. [8]

No intracranial or visceral hematomas were observed in our patients. However, two of our patients have cerebral palsy and one of them has a sibling with a similar condition. As these patients were born at home, there was a possibility of intracranial hemorrhage occurring during labor.

The majority of our patients presented with anemia which was mostly microcytic and hypochromic in nature, therefore the majority required blood transfusion or red cell transfusion and iron supplement. Platelet transfusion was the hallmark of management protocol. Treatment with cryoprecipitate and/or fresh frozen plasma and needle aspiration of the knee hematoma, adopted in 2 patients with hemarthrosis (before a definitive diagnosis of Glanzmann's thrombosthenia was made), were ineffective. Bleeding in the joint was only controlled by platelet transfusion in these patients. Even though platelet trans­fusion might be the only available therapy in severe or uncontrolled bleeding, it should be avoided as much as possible to preclude the development of platelet anti­bodies.

In conclusion, the spectrum of clinical presentations in patients with GT appears to be wide and the occurrence of the differ­ent symptoms varies. Moreover, some of the presenting features tend to mimic those of hemophilia, a situation which, in some cases, has resulted in the unnecessary treatment with Factor VIII-containing blood components.

It is not clear whether such clinical pres­entation could be partly attributed to other factors such as age, environment, or physi­cal activity. Therefore, it would be infor­mative for more extensive studies and follow-up of patients to be performed.

 
   References Top

1.Pittman M, Graham J. Glanzmann's thrombasthenia: An autosomal recessive trait in one family. Am J Medical Sciences 1964;247:293.  Back to cited text no. 1
    
2.Riechert N, Seigsohn U, Ramot B. Clinical and genetic aspects of Glanzmann's thrombosthenia in Israel. Report of 22 cases. Thromb Diath Hemorrh 1975;34:806-820.  Back to cited text no. 2
    
3.Awidi AS. Increased incidence of Glanzmann's thrombosthenia in Jordan as compared with Scan­dinavians. Scand Journal Haematol 1983;30:218­222.  Back to cited text no. 3
    
4.Khanduri U, Pulimood A, Sudarsanam RH, Car­man M, Jadhav M, Perena S. Glanzmann's throm­bosthenia. A review and report of 42 cases from South India. Thrombo Haemost 1981;46:717-721.  Back to cited text no. 4
    
5.Ahmed MM, Al-Sohaibani MO, AI-Mohaya SA, Sumer T, AI-Sheik EH,Knox-Macaulay H. Inher­ited bleeding disorders in the Eastern Province of Saudi Arabia. Acta Haemat 1988;79:202-206.  Back to cited text no. 5
    
6.Belluci S, Caen JP. Congenital platelet disorders. Blood Review 1988;2:16-26.  Back to cited text no. 6
    
7.George JN, Caen JP, Nurden AT. Glanzmann's thrombosthenia: The spectrum of clinical disease. Blood 1990;75(7):1383-1395.  Back to cited text no. 7
    
8.Agarwal MB, Agarwal UM, Viswanathan C, Bhave AA, Billa V. Glanzmann's thrombosthenia. Indian Pediatr 1992;29(7):837-41.  Back to cited text no. 8
    
9.Awidi AS. Delivery of infants with Glanzmann's thrombosthenia and subsequent blood transfusion requirements: A follow-up of 39 patients. Am J Haematol 1992;40(1):1-4.  Back to cited text no. 9
    
10.Caen JP. Glanzmann's thrombosthenia. Balliere's Clin Haematol 1989;2(3):609-25.  Back to cited text no. 10
    


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