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ORIGINAL ARTICLE
Year : 2015  |  Volume : 40  |  Issue : 1  |  Page : 11-12

Platelet aggregation study: valuable aid to diagnose dysfibrinogenemia


Department of Hematology, All India Institute of Medical Sciences, New Delhi, India

Date of Submission07-Jul-2014
Date of Acceptance21-Nov-2014
Date of Web Publication24-Apr-2015

Correspondence Address:
Abhishek H. L. Purohit
308, FTA, Ayurvigyan Nagar, South Ex Part II, New Delhi - 110 049
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1110-1067.155783

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How to cite this article:
Purohit AH, Aggrawal M, Kotru M, Pati HP. Platelet aggregation study: valuable aid to diagnose dysfibrinogenemia. Egypt J Haematol 2015;40:11-2

How to cite this URL:
Purohit AH, Aggrawal M, Kotru M, Pati HP. Platelet aggregation study: valuable aid to diagnose dysfibrinogenemia. Egypt J Haematol [serial online] 2015 [cited 2019 Dec 10];40:11-2. Available from: http://www.ehj.eg.net/text.asp?2015/40/1/11/155783

Platelet aggregation studies are conventionally used for characterizing platelet function defects. However, this can be useful adjunct in the diagnostic workup of certain other disorders as well.

We have described a case of dysfibrinogenemia where platelet aggregation study was used to characterize the defect.

A 45-year-old married Muslim lady presented with history of recurrent ecchymotic patches over the skin and prolonged bleeding following trauma since last 13 years. She also had prolonged bleeding after tooth extraction 4 years back.

In the past, she had significant puberty menorrhagia. There was no history of joint bleeding, headache, vomiting, seizures, or pain abdomen.

She had primary infertility. Her parents had a second-degree consanguineous marriage. Her mother had menorrhagia but was never evaluated for the same.

On physical examination, she had ecchymotic patches all over the body.

On laboratory investigations, her hemoglobin, total leukocyte count, and platelets were 98 g/l, 5 × 10 9 /l, and 254 × 10 9 /l, respectively. Platelets were morphologically normal on peripheral smear examination.

Screening coagulogram was performed, which showed marked prolongation of prothrombin time (93'/13'), activated partial thromboplastin time (145'/30'), and thrombin time (45'/16'); however, fibrinogen levels were in normal range (410 mg/dl). The patient had not been transfused with any blood product.

A diagnosis of dysfibrinogenemia was suggested in presence of markedly prolonged all coagulation times and normal fibrinogen levels. Platelet aggregation studies performed with various agonists revealed markedly reduced response of platelets to arachidonic acid, adrenalin, ADP as well as ristocetin.

Diseases affecting fibrinogen may be acquired or inherited. Inherited disorders of fibrinogen are rare and affect either the quantity (hypofibrinogenemia and afibrinogenemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen, or both (hypodysfibrinogenemia). More than 400 cases of dysfibrinogenemia have been reported to date [1] . The first dysfibrinogenemia mutation was identified as early as 1968 [2] .

Patients with inherited dysfibrinogenemia are frequently asymptomatic; however, some patients suffer from bleeding diathesis, thromboembolic complications, or both. A compilation of more than 260 cases of dysfibrinogenemia revealed that 55% of the patients had no clinical complications, 25% exhibited bleeding, and 20% displayed a tendency to thrombosis, mainly venous [3] .

Asymptomatic dysfibrinogenemia is usually discovered incidentally because of abnormal coagulation tests or because a case of dysfibrinogenemia has been previously discovered in the family. Patients with dysfibrinogenemia associated with hemorrhage bleed most often after trauma, surgery, or postpartum [4] .

Dysfibrinogenemia is diagnosed by a discrepancy between clottable and immunoreactive fibrinogen. However, even in specialized laboratories, this diagnosis can be difficult because the sensitivity of the tests depends on the specific mutation, reagents, and techniques. A diagnostic algorithm based on the thrombin time as an initial test has been proposed [4] .

In classic dysfibrinogenemias, the functional assay of fibrinogen yields low levels compared with the immunologic assays, but levels are sometimes concordant, and the functional level may even be normal.

The gold standard for the diagnosis of dysfibrinogenemia is the characterization of the molecular defect, which however is only available in specialized laboratories. Fibrinogen mediates platelet aggregation by its interaction with the platelet glycoprotein IIb - IIIa (integrin αIIbβ3). Hence, in absence of fibrinogen or in presence of dysfunctional fibrinogen molecule, there is reduced platelet aggregation response and in absence of molecular tests, a simple test such as platelet aggregation test may help characterize the disorder.


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Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Mosesson MW. In: Lichtman MA, Beutler E, Kaushansky K, Kipps TJ, Seligsohn U, Prchal J, eds Hereditary fibrinogen abnormalities. Williams hematology. 7th ed.. New York, NY: McGraw-Hill 2005; 1909-1927.  Back to cited text no. 1
    
2.
McDonagh J. In: Colman R, Hirsh J, Marder V, Clowes A, George J, eds Dysfibrinogenemia and other disorders of fibrinogen structure or function. Hemostasis and thrombosis. Basic principles and clinical practice. Philadelphia, PA: Lippincott Williams & Wilkins 2001; 855-892.  Back to cited text no. 2
    
3.
Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73 :151-161.  Back to cited text no. 3
    
4.
Roberts HR, Stinchcombe TE, Gabriel DA. The dysfibrinogenemias. Br J Haematol 2001; 114:249-257.  Back to cited text no. 4
    




 

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