INFORMATION CONTENT OF BIOCHEMICAL INDICATORS AND EXTRAHEPATIC DISORDERS IN HEREDITARY LIVER DISEASES

Background. Hereditary liver diseases are a significant social problem, often hindering early diagnosis. The lack of pathognomonic symptoms for most liver diseases in the preclinical and early stages of disease development leads to low detection rates and frequent diagnostic errors. Therefore, studying the informativeness of biochemical and clinical indicators is currently relevant.

The aim of this study was to investigate informative diagnostic indicators for hereditary liver diseases.

Materials and Methods. Archival medical records from the gastroenterology department were analyzed, identifying 67 patients (aged 4 months to 17 years) who underwent inpatient treatment between 2024 and 2025. Based on the data obtained, a group of patients with hereditary (study) and non-hereditary (control) liver pathology was identified, and the main biochemical and clinical indicators of diagnostic value were studied.

Results. The study showed that the most informative biochemical abnormalities in hereditary liver diseases include total bilirubin, alkaline phosphatase, alanine aminotransferase, and triglyceride levels (p < 0.05). Hereditary liver diseases typically present with early onset and are often asymptomatic or minimally symptomatic. The most common clinical signs are splenomegaly and hepatomegaly (p < 0.001). Hereditary liver disease is often associated with extrahepatic manifestations, including neurological and respiratory symptoms (p < 0.05).

Conclusion. The data obtained can serve as a basis for improving diagnostic algorithms, reducing the time to diagnosis, and initiating timely pathogenetic therapy, ultimately improving the prognosis and quality of life of patients with hereditary liver disease. Keywords: hereditary liver pathology, biochemical markers, informativeness of biochemical markers.

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