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[Hereditary hemorrhagic telangiectasia with liver involvement]
D del Pozo Prieto1, R Bárcena Marugán, P Olivencia Palomar
1Servicio de Gastroenterología, Hospital Ramón y Cajal, Madrid.
Gastroenterologia Y Hepatologia
|July 21, 2000
Summary
Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, can cause liver complications. Liver transplantation may be a viable treatment option for severe liver manifestations of this vascular disorder.
Area of Science:
- Hepatology
- Vascular Medicine
- Genetics
Background:
- Rendu-Osler-Weber syndrome (hereditary hemorrhagic telangiectasia) is a genetic disorder characterized by abnormal blood vessel formation.
- It commonly leads to recurrent bleeding episodes due to these vascular malformations.
Observation:
- A 56-year-old woman with a 15-year history of chronic liver disease presented with esophageal variceal hemorrhage.
- She was evaluated as a candidate for liver transplantation.
Findings:
- Hereditary hemorrhagic telangiectasia can manifest in the liver through vascular changes like telangiectasias, angiomas, hepatic artery aneurysms, and arteriovenous fistulae.
- These vascular alterations are distinct from those typically seen in liver parenchyma diseases.
- The syndrome may also cause parenchymal liver alterations, though the underlying mechanisms remain unclear.
Implications:
- Understanding the diverse hepatic manifestations of hereditary hemorrhagic telangiectasia is crucial for patient management.
- Treatment options for severe liver involvement include hepatic artery embolization, ligation, and liver transplantation.
- This case highlights the importance of considering hereditary hemorrhagic telangiectasia in patients with unexplained liver disease and bleeding complications.