Published studies

Liver cancer in a Tyrosinemia type 1 patient without increase in blood AFP concentrations

 

Publication: March 2015 in Pediatrics
Article: Liver cancer in a Tyrosinemia type 1 patient without increase in blood AFP concentrations.
Authors: WG van Ginkel, AS Gouw, EJ van der Jagt, KP de Jong, HJ Verkade, FJ van Spronsen
Contact: Wiggert van Ginkel
Link to article: Pediatrics

Liver cancer was very common before Tyrosinemia type 1 patients were treated with the drug NTBC. The risk of liver cancer formation decreased tremendously after the introduction of NTBC, especially if NTBC treatment was initiated early and if alfa-1-foetoproteine (or AFP in short) concentrations quickly decrease to normal concentrations.

AFP concentrations are usually increased in Tyrosinemia type 1 patients with liver problems. So before neonatal screening, when patients were usually diagnosed in the hospital when they were very ill, AFP concentrations were often very high. However, when adequate treatment with NTBC was initiated, AFP concentrations returned to normal values. After the normalisation of AFP, the risk of developing liver cancer is greatly decreased though not absent. An increase in AFP can be suggestive of liver cancer development and therefore AFP concentration are regularly measured in the hospital. In addition, liver cancer screening often includes regular ultrasound investigations of the liver as well.

This article describes a patient with some changes at liver ultrasound that were not clearly suggestive of liver cancer and there was no clear increase in AFP either. Nevertheless, new additional investigations had been done because the clinicians were not convinced and couldn’t rule out the presence of liver cancer completely. In the end, the additional investigations showed that the initial changes were suggestive of liver cancer. This shows that clinicians could not fully rely on blood AFP concentrations and that any changes at liver ultrasound may be suggestive of liver cancer.

 

It's hard to believe, but there are no
european guidelines for Tyrosinemia type 1 yet!

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