IperCKemia asintomatica: la malattia di Pompe late-onset

Abstract

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of clinical manifestations. Dried blood spot (DBS) screening test for acid α-glucosidase (AAG) enzyme activity was below normal levels and molecular genetic testing for AAG gene demonstrated pathogenic mutations. The diagnosis of late-onset Pompe disease (LOPD) was finally confirmed. Thanks to the early diagnosis, the child would be under close surveillance and would timely commence enzyme replacement therapy (ERT), improving the prognosis of the disease.<br> The diagnostic delay in patients with LOPD is still common, namely between about 5 and 30 years. Clinicians need a high index of suspicion to recognize this condition as it is a rare disease and the heterogeneous clinical presentation can mimic the presentation of other neuromuscular disorders.<br> Diagnostic laboratory tests are quite fast and reliable to detect the enzymatic deficiency and enzyme replacement therapy (ERT) is available and improves long-term outcomes. Thus, it is of absolute importance that clinicians should consider the possibility of LOPD in patients who present with asymptomatic hyperCKemia.