Early diagnosis and early treatment in LOPD: when asymptomatic patients should be treated

Pompe disease is a lysosomal disorder caused by GAA deficiency. Late Onset Pompe Disease (LOPD) is characterized by progressive muscle weakness and/or respiratory failure but, sometimes, only by an asymptomatic hyperCKemia. It has been suggested that an early diagnosis is fundamental for a timely ERT start to maximize its efficacy. According to the current guidelines, ERT is recommended for patients clinically defined or in presymptomatic patients with detectable muscle weakness or reduction in respiratory parameters on clinical examination. Objective: To discuss about current treatment guidelines for LOPD, focusing on early diagnosis. In a recent high risk population study (LOPED study), involving 17 Neuromuscular Italian Centers, we were able to diagnose 17 new LOPD patients out of 1051 patient with suspected neuromuscular disorders. Among those patients, 35 % manifested with asymptomatic hyperCKemia, 59 % with hyperCKemia and limb girdle muscle weakness (LGMW) and 6 % only with LGMW. The median time from onset of symptoms to diagnosis was 7.7 years. ERT has been initiated in 11 patients: 8 out of the 11 showed LGMW with hyperckemia whereas other 3 evidenced hyperCKemia without clinical symptoms but muscle morphology showed severe muscle damage and muscle MRI in proximal muscles revealed an sclero-adipose substitution. Our study demonstrated that 35 % of patients apparently with asymptomatic hyperCKemia showed a combination of clinical, morphological and neuroradiological data that suggesting to start ERT early. This study suggests that current treatment guidelines should be carefully updated. Disclosure: Nothing to disclose.