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