Primer Biliyer Kolanjit Hastalarında Miyopati Varlığının Değerlendirilmesi

Abstract

Şahin, YB., Evaluation of the Presence of Myopathy in Patients with Primary Biliary Cholangitis, Hacettepe University Faculty of Medicine, Internal Medicine Specialty Thesis. Ankara, 2026 Primary biliary cholangitis (PBC) is a cholestatic liver disease characterized by chronic autoimmune destruction of the intrahepatic bile ducts. The mechanisms underlying fatigue, a symptom that substantially impairs patients’ quality of life, have not yet been fully elucidated. Recent reports of myopathy associated with antimitochondrial antibodies have suggested that muscle involvement may occur in PBC. This study aimed to evaluate the presence of myopathy in patients with PBC, identify clinical features associated with muscle involvement, and investigate its potential relationship with carnitine metabolism. A total of 61 patients who were followed at Hacettepe University, the Department of Gastroenterology and diagnosed with PBC according to the European Association for the Study of the Liver (EASL) criteria were prospectively enrolled. The patients’ demographic characteristics, fatigue symptoms, neurological examination findings, laboratory results, and biomarkers of myopathy were evaluated. Further investigations, including serum carnitine profile analysis, were conducted both to investigate the potential etiology of muscle involvement and to identify possible therapeutic targets. Biochemical and serological findings potentially consistent with myopathy were detected in two patients. Magnetic resonance imaging findings consistent with myopathy were detected in these patients suspected of having muscle involvement. Furthermore, there were differences in carnitine metabolism both between the healthy population and patients with PBC, and between PBC patients with and without muscle involvement. Our findings suggest that myopathy is a rare extrahepatic manifestation of PBC, that is overlooked in patients with fatique. Further studies investigating the mitochondrial and metabolic functions in larger PBC cohorts are needed to elucidate the mechanisms of PBC-related myopathy.