Diagnosis of Liver Cirrhosis on the Background of Mutations H63D of the HFE Gene and H1069Q of the ATP7B Gene in associated with Hemochromatosis and Wilson's Disease (Clinical Case)
Authors:   VN Karazin Kharkiv National University. 4, Freedom Square, Kharkiv 61022, Ukraine, Dorofieieva V. , Borysenko T. ,   MNPE "City Clinical Hospital No. 13" of the Kharkiv City Council. 137, Yuri Gagarin Ave., Kharkiv 61000, Ukraine, Fedota O. ,   VN Karazin Kharkiv National University. 4, Freedom Square, Kharkiv 61022, Ukraine
Published: July 2022

The purpose of the study was to ilustrate the analysis of etiological factors of liver cirrhosis using clinical and anamnestic data and the results of instrumental, laboratory and genetic researches. Materials and methods. The data of anamnesis and objective examination, results of instrumental, laboratory and genetic research methods are evaluated and analyzed. Modern protocols and medical literature were used. Results and discussion. Clinical case of the patient, 52 years old. Complaints of weakness, pain in the left hypochondrium, taste of iron, convulsions of the upper and lower extremities. Laboratory and instrumental methods of research allowed to establish the following indicators in the patient: erythrocytopenia, thrombocytopenia, neutropenia, persistent lymphocytosis, lecopenia, decreased platelet count, increased average erythrocyte volume and average hemoglobin content in one erythromycin distribution, albuminemia, increased beta globulin, decreased albumin to globulin ratio, increased liver enzymes (ALT, AST, bilirubin direct) and GGT, blood iron metabolism (COPD and iron levels), iron saturation and iron ferritin saturation, negative immunological analysis for antinuclear antibodies (ANA), HbS Ag and anti-HCV were not detected. The patient was consulted by a hematologist, lymphoproliferative diseases were excluded. On the basis of data on hepatosplenomegaly, portal hypertension, varicose veins of the esophagus, lymphadenopathy, excluding nonalcoholic fatty liver disease, alcoholic fatty liver disease, viral hepatitis, autoimmune hepatitis, biliary cirrhosis, diagnosed with a diagnosis on the detection of mutations that cause hemochromatosis and Wilson's disease. Molecular genetic studies have shown the following results: the H63D mutation of the HFE gene in the heterozygous state and the H1069Q mutation of the ATP7B gene in the heterozygous state were detected. Mutation testing and phenotype prediction based on genotype opens up prospects not only for personalized therapy, but also for the development of new treatment strategies. The literature provides data about new therapies with different mechanisms of action and discusses studies on Bis-choline tetrathiomolybdate in patients, pre-clinical studies of a novel chelator methanobactin and animal studies exploring cures for WD with gene therapy using adeno-associated vectors that introduce ATP7B into liver cells. Conclusion. The clinical case showed the need to involve specialists in various specialties and a set of research methods to establish the etiology of liver cirrhosis and further etiopathogenetic treatment and the formation of risk groups for primary prevention among relatives