“Background. An increase in liver enzymes (LEs) often accompanies myopathies, sometimes misleading diagnosis towards liver diseases. In these cases, the increase in LEs always correlates with CK levels and is never excessively high. Conversely, an abnormal liver function, inconsistent with CK levels, may serve as a sentinel of a multisystemic disorder. Herein, we report a clinical case of a patient with a metabolic myopathy, exhibiting persistent and unexplained elevation in LEs.
Case. A 34-year-old male presented to our outpatient clinic for hyperCKemia (5000 U/L, nv 60-200 U/L), and an episode of dark urine emission. His neurological examination was normal. Forearm exercise test revealed no increase of lactate after one minute of effort, suggesting a metabolic block in glycolysis. Muscle biopsy showed myophosphorylase deficiency, confirmed through genetic testing for PGYM gene (c.1836T>Cp.L587P; c.1136C>Tp.T379M). During follow-up, laboratory exams showed persistently elevated ALT (max 2100 U/L, nv 7-56 U/L) and AST levels that did not correlated with increased CK levels. A few months later, jaundice appeared (bilirubin 5.6 mg/dL, ALT 2100 U/L), prompting additional investigations. Liver biopsy revealed autoimmune hepatitis. Treatment with prednisone, and azathioprine 2 mg/kg yielded excellent therapeutic response. At the follow-up visit, liver ultrasound showed mild fibrosteatosis. LEs and CK levels normalized (ALT 61 U/L, AST 78 U/L, 212 U/L).
Discussion. The relationship between CK and LEs levels in myopathies is well-described and an elevation in LEs is attributed to muscle injury. However, an abnormal elevation in LEs, inconsistent with CK levels, should always be carefully investigated in myopathies.”