| Abstract: | BACKGROUND: Underlying liver disease is usually, quite rightly, suspected in patients with raised liver enzyme levels. Thesecan, however, actually have a different cause, such as a muscular disease. CASE DESCRIPTION: A 41-year-old woman was referred to a gastroenterology clinic with unexplained elevated liver enzymelevels and fatigue. She had experienced mildly raised liver enzyme levels 10 years previously; following analysis these were interpreted as due to 'non-alcoholic fatty liver disease'. Further questioning revealed that the patient had also recently been experiencing muscular pain and had difficulty with rising from a sitting position. Laboratory investigation revealed elevated aminotransferase and creatinine kinase (CK) levels. The symptoms and the abnormal laboratory results were found to be due to a mutation of the ANO5 gene. CONCLUSION: A mild liver enzyme disorder can indicate a muscular disease. It is sensible to measure CK levels early, in order to distinguish between a muscular disease and other causes of the raised liver enzyme level. This may prevent unnecessary, invasive and expensive diagnostics. |
