Budd-Chiari syndrome has different presentations and disease severity during adolescence

There are limited data on clinical profile of adolescent patients with Budd-Chiari syndrome (BCS). We studied clinical, radiological, thrombophilia profile and treatment outcomes in adolescent patients with BCS.

Forty-three consecutive patients of BCS with onset of symptoms during adolescence (10-19 years) were enrolled in the study. 129 randomly selected adult patients with BCS and 36 children with BCS formed the two control groups. The clinical history, physical examination, laboratory tests, thrombophilic disorders, radiological features and treatment outcomes of adolescents were compared to adults and children.

In adolescents, ascites (25/43 vs. 110/129, p = 0.0004) and thrombophilic disorders (16/43 vs. 93/129 p < 0.0001) were less frequent than adults. More adolescents (14/43) presented with hepatomegaly alone without ascites than adults (9/129, p < 0.001) or children (1/36, p = 0.005). Adolescents had lower Clichy scores [3.75 (1.2)] than adults [4.72 (1.3), p < 0.0001) or children [4.43 (1.7), p = 0.041]. JAK-2 V617F mutation was the most common thrombophilic disorder in adolescents (5/43) and more common than children (0/36, p = 0.043). Response to therapy was better in adolescents (74.4%) than children (52.8%, p = 0.038), but similar to adults (63.56%, p = 0.13).

During adolescence, patients with BCS present less commonly with ascites and may present with hepatomegaly alone. JAK-2 V617F mutation is the most common thrombophilic disorder during adolescence; though thrombophilic disorders are less common in adolescents than adults. Response to therapy is similar to adults, but better than children.