Patients with hereditary tyrosinemia type 1 have an elevated risk of developing hepatocellular carcinoma, especially if initiation of treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione is delayed. Hepatocellular carcinoma can usually be suspected when there are increased α1-fetoprotein levels and characteristic imaging features. The present case shows that a lack of a clear increase in α1-fetoprotein should still lead to consideration of liver transplantation when imaging features change.
Hepatocellular Carcinoma in Tyrosinemia Type 1 Without Clear Increase of AFP
FINANCIAL DISCLOSURE: Dr van Spronsen has consulted for and received grants from SOBI, but this relationship began after completing the present study; the other authors have indicated they have no financial relationships relevant to this article to disclose.
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Willem G. van Ginkel, Annette S.H. Gouw, Eric J. van der Jagt, Koert P. de Jong, Henkjan J. Verkade, Francjan J. van Spronsen; Hepatocellular Carcinoma in Tyrosinemia Type 1 Without Clear Increase of AFP . Pediatrics March 2015; 135 (3): e749–e752. 10.1542/peds.2014-1913
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