EXTRA HEPATIC PORTAL HYPERTENSION DUE TO FAMILIAL PROTEIN S DEFICIENCY
Dr. Ira Shah *
In charge, Pediatric Hepatobiliary Clinic, Department of Pediatric Hepatobiliary Clinic, B J Wadia Hospital for Children, Parel, Mumbai. *
Case 1
An eight-year-old girl born of non-consanguineous marriage presented with abdominal pain in December 2004. An ultrasound abdomen was done at that time which showed splenomegaly with portal cavernoma. An esophagogastroscopy was done in January 2005 which showed no varices. She had no previous episodes of hematemesis, malena or jaundice. There was no history of severe dehydration or neonatal umbilical catheterization. Family history was non-contributory. On examination, she was well nourished and had splenomegaly. Her liver function tests were normal and her hemogram showed anemia with leucopenia with normal platelet count. A thrombophilia workup revealed absent urine homocysteine with normal protein C and Anti thrombin III levels. HerANA, ds DNA, Anti phospholipid antibodies, Anti cardiolipin antibodies were negative. Her protein S levels were low [53.7% (Normal = 60-120%)]. Her two younger siblings (one boy and one girl) who were asymptomatic were also screened for Protein S deficiency and were found to be deficient (52.2% and 31.9%) respectively. The patient was started on Folic Acid, Beta blockers and advised pneumococcal vaccine and regular follow up with monitoring for hypersplenism and increasing portal pressures. Both siblings were advised to maintain adequate hydration to prevent thrombosis.
Discussion
An Indian study has found that majority of children with PVT have functional protein C deficiency or abnormally elevated anti cardiolipin antibodies. Similarly in Mexican patients with non-cirrhotic PVT, 31% had protein C deficiency. However a French study has found that in non-cirrhotic PVT, deficiency of Protein S was found in maximum number of patients as found in our patient. A British study in patients with PVT with normal liver function tests found single or combined deficiencies of protein C, protein S and antithrombin in 62% of cases, but family studies suggested that majority of these were acquired, rather than hereditary. However, in our patient, family study suggested that the protein S deficiency was hereditary as both the other children were also Protein S deficient but were asymptomatic. Though our patient did not have any thrombus in the portal vein on ultrasonography, it is likely that the acute thrombosis may have been missed and when the child presented to us, the chronic stage in form of splenomegaly and portal hypertension was present. Management of patients with portal hypertension with underlying thrombophilia state consists of sclerotherapy, adjunctive propranolol therapy and porto systemic shunt with severe bleeds. Role of warfarin in PVT remains debatable.
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