Introduction and aim. The pathogenesis of autoimmune diseases, including musculoskeletal, gastrointestinal, and endocrine manifestations, involves the interaction of genotype and environmental factors. Pathologies demonstrate comorbidity and clinical heterogeneity even within a single family. Genetic polymorphisms of one-carbon metabolism are key regulators of cellular processes that become therapeutic targets.
Description of the case. The study describes personalized therapy for a patient with an autoimmune comorbid disease, with an emphasis on genetic and metabolic characteristics. The treatment regimen is adapted to the features of the one-carbon metabolism profile of a patient with chronic autoimmune hepatitis and degenerative-dystrophic joint disease. Family history includes autoimmune thyroiditis, vitiligo, Parkinson’s disease, cardiovascular diseases. The patient’s genotype for single nucleotide polymorphisms rs1801133, rs1801131, rs1801394, rs1805087, and rs3733890 of the one-carbon metabolism genes is associated with elevated plasma homocysteine levels. After treatment, changes in biochemical parameters were observed: alanine aminotransferase (72→53 U/L), aspartate aminotransferase (53→44 U/L), gamma-glutamyltransferase (129→89 U/L), alkaline phosphatase (313→125 U/L) and homocysteine (15.1→17.0 μmol/L).
Conclusion. Positive dynamics after personalized therapy demonstrates the importance of an interdisciplinary approach to etiopathogenetic treatment, emphasizing the need to support hepatobiliary function along with muscular and skeletal therapy.