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LETTER TO EDITOR Table of Contents   
Year : 2008  |  Volume : 51  |  Issue : 2  |  Page : 310-311
Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation


1 Department of Biochemistry, JIPMER, Pondicherry - 605 006, India
2 Department of Paediatrics, JIPMER, Pondicherry - 605 006, India

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How to cite this article:
Goswami K, Nandakumar DN, Soundravally R, Nandeesha H, Das V, Kannan R, Nalini P, Koner B C. Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. Indian J Pathol Microbiol 2008;51:310-1

How to cite this URL:
Goswami K, Nandakumar DN, Soundravally R, Nandeesha H, Das V, Kannan R, Nalini P, Koner B C. Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation. Indian J Pathol Microbiol [serial online] 2008 [cited 2019 Oct 19];51:310-1. Available from: http://www.ijpmonline.org/text.asp?2008/51/2/310/41708


Sir,

A young boy of 12 years had a hematoma of right jaw following tooth extraction. He had a significant past history of umbilical stump bleeding on the 3 rd day of birth and several bleeding episodes with trivial injuries during early life requiring blood transfusion in one occasion. During last one and half years, he had three major episodes of bleeding (including a CNS hemorrhage) requiring fresh frozen plasma and responded well without any thrombotic complication. He had no significant family history.

He was severely anemic and underweight (body weight 20 kg). In general, there were no other significant findings on systemic examinations.

On investigation, iron deficiency anemia with Hb - 6.7 g%, TLC - 9600/cm 3 , DLC - N 52 L 38 E 7 B 0 M 3 and platelet count - 168,000/cm 3 was found. His BT (>10 min), CT (>20 min), PT (>4 min: control 15.2 s), APTT (>4 min: control 41.5 s) and TT (>1 min: control 6.5 s) were prolonged. Erythrocyte sedimentation rate (ESR) was 6 mm/h. Previous investigations also showed similar profile. His liver function was normal.

An attempt was made to measure plasma fibrinogen level by conventional method. [1] In this test, protein clot obtained from plasma by adding excess CaCl 2 is measured by Biuret method. No protein clot was formed even 14 h after addition of CaCl 2 to patient's plasma. Addition of thrombin and CaCl 2 also failed to produce a clot from plasma.

We tried to determine the critical level of plasma fibrinogen that can form a separable protein clot that can be measured by conventional method. We collected plasma sample from three healthy subjects and measured fibrinogen at various levels of dilutions. The mean level of minimum fibrinogen that produced a measurable clot was 43 mg/dl (range 36-44 mg/dl).

The separation of plasma and serum proteins by electrophoresis in 1% agarose gel failed to show any difference in band pattern and the band corresponding to fibrinogen was nearly invisible in the case when compared with control.

The patient's family consisting of parents, one brother and one sister was found to have normal coagulation profile.

Diagnosis of congenital afibrinogenemia, a rare coagulation disorder is based on the clinical history and almost undetectable level of fibrinogen in plasma. [2] Coagulation profile of the patient indicates that the defect is in final common pathway of coagulation cascade. History of repeated disproportionate bleeding and hematoma with trivial injuries, umbilical cord bleeding, low ESR (disproportionate to the level of anemia), associated platelet dysfunction as indicated by increased BT and normal platelet count and very good response with fresh frozen plasma on repeated occasions without any thrombotic manifestation (common in dysfibrinogenemia) prompted us to investigate for afibrinogenemia. [2],[3] The facility for fibrinogen assay by Elisa was not available in our institute and patient was unable to afford it from private lab. Lack of formation of a clot during conventional method of fibrinogen measurement indicates that the plasma fibrinogen of the patient was below 50 mg/dl, which is commonly encountered in afibrinogenic conditions. [2] Although the addition of thrombin and CaCl2 also failed to form a clot in plasma, it rules out prothrombin deficiency in this case. [1],[2]

The disorder is mainly because of an autosomal recessive defect in fibrinogen synthesis. Hence, history of consanguinity in parents is very important. [2],[3] Although it is a common practice in the patient's community, the parents refused to reveal the information.

During last one and half year, increased frequency of bleeding episodes requiring transfusions and life-threatening complication like CNS hemorrhage are also matching with natural history of afibrinogenemia. [2]

The present report establishes that diagnosis of afibrinogenemia may be made even by estimation of fibrinogen by conventional method with proper clinical-chemical corroboration

 
   References Top

1.Varley H. Plasma proteins. In: Varley H, editor. Practical clinical biochemistry , 4 th ed. New Delhi: CBS Publishers and Distributors; 2002. p. 230-74.  Back to cited text no. 1    
2.Rodgers GM, Greenberg CS. Inherited coagulation disorders In: Lee GR, Foerster J, Lukens J, Greer JP, Rodgers GM, editors. Wintrobe's clinical hematology. 10 th ed. Vol. 2. Baltimore: Lippincott Williams and Wilkin; 1999. p. 1682-732.  Back to cited text no. 2    
3.Fernando PB, Dharmasena BD. A case of congenital afibrinogenemia. Blood 1957;12:474-9.  Back to cited text no. 3  [PUBMED]  [FULLTEXT]

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Correspondence Address:
B C Koner
Department of Biochemistry, Maulana Azad Medical College, Bahadur Shah Zafar Marg, New Delhi - 110 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.41708

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