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Budd-Chiari syndrome in children and outcome after liver transplant
Ana Cristina Gomes1, Gina Rubino, Carla Pinto
1Hospital Pediátrico de Coimbra, Centro Hospitalar da Universidade de Coimbra, Coimbra, Portugal. anacristinagomes80@gmail.com
Insights
Budd-Chiari syndrome (BCS) in children is rare. Liver transplantation (LT) can be a life-saving option for severe cases, but long-term anticoagulation management requires careful consideration.
Area of Science:
- Pediatric Gastroenterology and Hepatology
- Transplantation Medicine
- Vascular Surgery
Background:
- Budd-Chiari syndrome (BCS) is a rare cause of portal hypertension in children, often presenting with varied clinical manifestations.
- Early diagnosis and management are crucial for improving outcomes in pediatric BCS.
- Genetic predispositions, such as Factor V Leiden and MTHFR mutations, may play a role in BCS pathogenesis.
Observation:
- Two pediatric cases of Budd-Chiari syndrome are presented with distinct clinical courses and outcomes.
- Case 1: A 4-year-old girl with BCS progressed to liver failure despite conservative management, necessitating liver transplantation (LT).
- Case 2: A 3-year-old boy with IgA deficiency experienced fulminant liver failure due to BCS, requiring urgent LT and subsequent management of IVC stenosis.
Findings:
- Molecular studies revealed Factor V Leiden heterozygosity in Case 1 and MTHFR C677T homozygosity with Factor V Leiden heterozygosity in Case 2.
- Post-LT follow-up in Case 1 showed no thromboembolic or bleeding events without anticoagulation for two years.
- Case 2 required IVC stent placement for stenosis and received long-term anticoagulation with dipyridamole and aspirin.
Implications:
- The management of pediatric Budd-Chiari syndrome, particularly post-liver transplantation, requires individualized strategies.
- Long-term anticoagulation may be necessary in select pediatric BCS patients post-LT to prevent thrombotic complications.
- Further research is needed to establish optimal anticoagulation protocols and long-term follow-up guidelines for pediatric BCS survivors.
Abstract:
BCS is a rare form of portal hypertension in children. The authors describe two cases of BCS with differing presentations. Case 1: Previously healthy four-yr-old girl. BCS was diagnosed during the course of an episode of acute gastroenteritis with dehydration. Despite conservative therapy for two months, the condition was progressive resulting in liver failure leading ultimately to LT. Molecular studies showed that she was heterozygous for the Factor (F) V Leiden. At follow-up, six yr post-LT (two yr without anticoagulation therapy), no thromboembolic/bleeding events were apparent. Case 2: Three-yr-old boy with IgA deficiency and liver disease. Following a febrile episode, he developed fulminant liver failure requiring urgent LT from a living donor (father). Molecular studies disclosed MTHFR C677T homozygosity and FV Leiden heterozygosity. The father was homozygous for the MTHFR mutation. Three months post-LT, persistent graft dysfunction was associated with stenosis of the IVC, which improved upon stent placement. He received dipyridamole and aspirin for five yr, after which time dipyridamole was discontinued. Evidence is sparse on the follow-up of BCS cases with liver transplant. The authors discuss their findings, particularly the need for long-term anticoagulation.