Hepatocellular Carcinoma in Hereditary Tyrosinemia Type I Despite 2-(2 Nitro-4-3 Trifluoro- Methylbenzoyl)-1, 3-Cyclohexanedione Treatment

Hepatocellular Carcinoma in Tyrosinemia Type 1 Without Clear Increase of AFP

“…5,6 Signs suggestive of HCC in the individual HT1 patient are a slow decrease to normal in AFP values; AFP not reaching normal values; an increase in AFP levels; and/or a new lesion found on imaging. 3,[5][6][7] In other diseases with a high risk of developing HCC (eg, hepatitis B and C), up to 44% of patients diagnosed with HCC show no clear increase in AFP levels. 8,9 Until now, all reported HT1 patients with proven HCC had exhibited a well-defined rise in AFP levels and a clear lesion at imaging.…”

“…[1][2][3][4] However, NTBC-treated patients with HTI are at increased risk of developing HCC. 5,6 Patients with a late initiation of NTBC due to delayed diagnosis or unavailability of NTBC, a slow decrease of a 1 -fetoprotein (AFP), or an AFP level that remains just above the normal range of 0 to 10 mg/L have an increased risk of developing HCC. 3,[5][6][7] In HTI, early detection of HCC is based on routine follow-up of AFP levels and liver imaging.…”

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

“…Treatment can be started in patients who have response to drug treatment with normalization in serum AFP levels within the first year of therapy. As known, development of HCC is the main risk for patients with the chronic form or who have been treated with NTBC after 2 years of age (22,23). Also, the detection of liver cancer is imperfect and laborious.…”

Nitisinone: a review

“…9,33,56,63,64 Development of HCC mainly affects patients with chronic form or who have been treated after 2 years of age, in whom malign transformation at the microscopic level is thought to have started even by the time nitisinone is started. 56,[63][64][65] These patients usually have a slow decrease in α-fetoprotein (AFP) levels without reaching normal levels despite treatment or persistent high levels of AFP. 66 Despite these findings, nitisinone decreases the risk of HCC compared to those before nitisinone treatment, as HCC incidence was reported to be 18%-37% among children who have survived past their second birthday.…”

“…44 In sharp contrast, all late-treated HT1 patients had chronic liver abnormalities before receiving nitisinone and developed cirrhosis, and some developed HCC. 23,44,63,68 Larochelle et al reported that LT was performed in 71% of non-nitisinone treated patients and 26% of late-treated patients. The clinical indications include cirrhosis or cancer, acute hepatic failure, and previous neurologic crisis.…”