The Liver Meeting 2020-Pediatric Liver Disorders SIG & Portal Hypertension SIG - Part 2 Controversies in the Diagnosis and Management of Non-cirrhotic Portal Hypertension in Children and Adults

Pediatric Liver Disorders SIG & Portal Hypertension SIG - Part 2 Controversies in the Diagnosis and Management of Non-cirrhotic Portal Hypertension in Children and Adults

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Video Summary

This case highlights a 16-year-old male with ARPKD and congenital hepatic fibrosis. He presented as a neonate with palpable masses and was later diagnosed with ARPKD via genetic testing. The patient resides in a rural area, which complicates access to advanced medical care. There are concerns about his risk for GI bleeding due to his liver condition. On physical exam, he appears well-developed with no signs of hypoxia. He has thrombocytopenia, splenomegaly, and an enlarged left lobe of the liver. Laboratory results show normal liver function tests, with only a mild elevation in creatinine. Imaging reveals perisplenic varices, an enlarged liver, dilated extrahepatic duct, and splenomegaly. The echocardiogram shows no evidence of pulmonary hypertension. The management of this patient may involve close monitoring for signs of GI bleeding, regular liver function tests, and surveillance imaging to monitor the progression of his liver condition. Anticoagulation therapy may be considered due to the risk of portal vein thrombosis associated with ARPKD. In situations where advanced care is not readily accessible, it's important to establish a communication plan between the patient, their family, and the healthcare team to ensure timely intervention in case of emergencies. This case underscores the challenges of managing non-serotic portal hypertension in pediatric patients, especially in remote settings.

Keywords

ARPKD

congenital hepatic fibrosis

16-year-old male

neonate

genetic testing

rural area

GI bleeding

thrombocytopenia

splenomegaly

perisplenic varices

portal vein thrombosis