Congenital portosystemic shunt

Get in touch with RARE Concierge.

Contact RARE Concierge

Congenital portosystemic shunt

Synonyms: Congenital portosystemic venous fistula

Congenital portosystemic shunt is a rare congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy hypergalactosemia without uridine diphosphate enzyme deficiency hyperammonemia encephalopathy (resulting in learning disabilities extreme fatigability and seizures) pulmonary hypertension hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

Newly diagnosed with
Congenital portosystemic shunt?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Collaborative Research Advocacy for Vascular Anomalies Network (CaRAVAN)

As the research-based umbrella organization for all vascular anomalies, we are on a mission to develop a unified network of patients and their families, advocates, researchers, and clinicians who influence research from initial concept and design to patient care delivery

Project FAVA

Project FAVA is a 501(c)(3) non-profit patient advocacy group that promotes awareness of fibro-adipose vascular anomalies, educates patients, their families, and the global community, and provides helpful resources to those with FAVA. Project FAVA also advances research to move the needle towards more effective and less invasive treatment options for FAVA patients.

Clinical Trials

For a list of clinical trials in this disease area, please click here.