Be vigilant! Type I tyrosinemia as a differential diagnosis in early liver disease

Hereditary tyrosinemia type I is a hereditary disease of the tyrosine amino acid metabolism. Two clinical variants are distinguished: acute (type 1A) and chronic (type 1B). The acute form is characterized by early onset, severe hepatic failure and intoxication, while the chronic form manifests itself at an older age and is less offensive in the debut. The prognosis is not dependent on the form of the disease: all the patients with tyrosinemia type I eventually get liver cirrhosis and are at high risk of developing hepatocellular carcinoma (HCC) or hepatoblastoma. Pathogenetic therapy of the disease with Nitisinone and tyrosine-free diet have been developed. Treatment is most effective when administered at an early stage, therefore tyrosinemia type I is included in the neonatal screening program in Russian Federation. Our work presents three clinical cases of late diagnosis of tyrosinemia type I with the development of liver fibrosis, hypophosphatemic rickets and blood coagulation disorders. It was demonstrated that even late initiation of pathogenetic therapy, despite the reduced efficiency, significantly improves the patient’s quality of life. Although neonatal screening for HT1 has been introduced, exclusion of this disease is still necessary in children and adolescents with early manifestation of liver pathology.

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