Hepatic vein angioplasty and stenting in a paediatric patient with Budd-Chiari syndrome secondary to CHAPLE syndrome: is endovascular therapy the answer?

CHAPLE syndrome is a recently described genetic disorder characterised by dysregulation of the complement pathway, with the acronym standing for 'CD55 deficiency with complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy'. Some patients develop thrombotic complications such as Budd-Chiari syndrome (BCS). Due to its rarity, management guidelines are lacking. We attempted endovascular angioplasty and stenting of the thrombosed right hepatic vein in a male child with BCS secondary to CHAPLE, diagnosed by symptoms and genetic testing. This case is potentially the first documented instance of CHAPLE syndrome associated with BCS in which endovascular therapy was used. The child was on enoxaparin post procedure, and although ascites and effusions initially improved, the stent occluded, necessitating repeat angioplasty and stenting 5 days later. Re-thrombosis occurred despite good intraoperative flow, leading to supportive care to manage symptoms. Our case shows limited benefits of endovascular therapy in such cases.