Сочетание синдрома Жильбера и гемохроматоза у пациентки с цитолизом и гипербилирубинемией

Abstract

Aim. To present a clinical case of the combination of Gilbert's syndrome and primary hemochromatosis. Key points. The article presents a clinical example demonstrating the complexity of diagnosing diseases caused by genetic polymorphism. Examination of the patient revealed impaired liver function, elevated levels of hemoglobin, serum iron, and transferrin saturation with iron, which led to suspicion of Gilbert's syndrome and primary hemochromatosis. These diagnoses were confirmed by genetic testing. Conclusion. Diagnosis of the causes of liver damage requires first and foremost exclusion of the most likely ones, but it is important to keep in mind the possibility of continuing the search for the causes of the disease using specific diagnostic methods. Keywords: Gilbert's syndrome, hereditary hemochromatosis, cytolysis, hyperbilirubinemia, hepatitis.