Indian Journal of Gastroenterology

, Volume 37, Issue 2, pp 174–175 | Cite as

Prothrombin gene mutation in Budd-Chiari syndrome—The first case report from India

  • Abhinav Jain
  • Akash Shukla

Thrombophilic disorders are detected in up to 84% of patients with Budd-Chiari syndrome (BCS). Multiple thrombophilic disorders may be present in more than 25% patients. Prothrombin gene mutation is present in up to 7% patients with BCS in the West [1], but there are no reported cases from India [2, 3, 4, 5, 6, 7]. We report here the first case of BCS with prothrombin gene mutation from India.

A 29-year-old female from Bihar, residing in Mumbai, presented in September 2017, with a two-month history of gradually progressive ascites. Complete blood count revealed hemoglobin 9.1 g/dL, leukocytes 2660/mm3, and platelets 1.2 × 105/mm3. Liver biochemistry showed a total bilirubin of 1 mg/dL, aspartate transaminase 59 IU/L, alanine transaminase 34 IU/L, alkaline phosphatase 224 IU/L, and albumin 3.6 g/DL. International normalized ratio was 1.29. Ascitic fluid analysis showed protein 5.15 g/dL with 20 polymorphs per mm3 and 30 lymphocytes per mm3. Magnetic resonance imaging (MRI) venogram...


  1. 1.
    Valla DC. Budd-Chiari syndrome/hepatic venous outflow tract obstruction. Hepatol Int. 2018;12Suppl 1:168–80.Google Scholar
  2. 2.
    Mohanty D, Shetty S, Ghosh K, Pawar A, Abraham P. Hereditary thrombophilia as a cause of Budd-Chiari syndrome: a study from Western India. Hepatology. 2001;34:666–70.CrossRefPubMedGoogle Scholar
  3. 3.
    Bhattacharyya M, Makharia G, Kannan M, Ahmed RP, Gupta PK, Saxena R. Inherited prothrombotic defects in Budd-Chiari syndrome and portal vein thrombosis: a study from North India. Am J Clin Pathol. 2004;121:844–7.CrossRefPubMedGoogle Scholar
  4. 4.
    Amarapurkar DN, Punamiya SJ, Patel ND. Changing spectrum of Budd-Chiari syndrome in India with special reference to non-surgical treatment. World J Gastroenterol. 2008;14:278–85.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Kumar SI, Kumar A, Srivastava S, Saraswat VA, Aggarwal R. Low frequency of factor V Leiden and prothrombin G20210A mutations in patients with hepatic venous outflow tract obstruction in northern India: a case-control study. Indian J Gastroenterol. 2005;24:211–5.PubMedGoogle Scholar
  6. 6.
    Alam S, Khanna R, Mukund A. Clinical and prothrombotic profile of hepatic vein outflow tract obstruction. Indian J Pediatr. 2014;81:434–40.CrossRefPubMedGoogle Scholar
  7. 7.
    Mutreja D, Kotru M, Sazawal S, et al. Hereditary and acquired thrombophilia in splanchnic vein thrombosis: a single-center experience. Clin Appl Thromb Hemost. 2015;21:521–6.CrossRefPubMedGoogle Scholar
  8. 8.
    Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698–703.PubMedGoogle Scholar
  9. 9.
    Zhang P, Zhang J, Sun G, et al. Risk of Budd-Chiari syndrome associated with factor V Leiden and G20210A prothrombin mutation: a meta-analysis. PLoS One. 2014;9:e95719.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Ridker PM, Hennekens CH, Miletich JP. G20210A mutation in prothrombin gene and risk of myocardial infarction, stroke, and venous thrombosis in a large cohort of US men. Circulation. 1999;99:999–1004.CrossRefPubMedGoogle Scholar

Copyright information

© Indian Society of Gastroenterology 2018

Authors and Affiliations

  1. 1.Department of GastroenterologySeth G S Medical College and K E M HospitalMumbaiIndia

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