Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP.

van Ginkel, Willem G; Gouw, Annette S H; van der Jagt, Eric J; de Jong, Koert P; Verkade, Henkjan J; van Spronsen, Francjan J · Pediatrics · 2015

case_report · Level V

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Abstract

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.

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