The Incidence of Late-Onset Pompe Disease in Subjects with Obstructive Sleep Apnea: A Cross-Sectional Study

Objectives: Current treatment options for obstructive sleep apnea syndrome often work to the sa-tisfaction of the patient, but in certain cases may not yield the required results for reasons that remain unclear. Late-onset Pompe disease may be a contributing factor in these circumstances. The aim of the present study was to determine the incidence of late-onset Pompe disease in a population diagnosed with obstructive sleep apnea. Material and Methods: The study had a cross-sec- tional, explorative design to assess the prevalence of late-onset Pompe disease in subjects with an established diagnosis of obstructive sleep apnea syndrome. In two different study mid to large size sleep clinics in Europe patients have been asked to donate a blood sample for the detection of ac-id-glucosidase enzyme activity. Results: Of a total of 544 patients with mild to severe obstructive sleep apnea, none had an acid maltase deficiency. Conclusions: Screening for Pompe disease in newly or recently detected OSA patients in mid to large size sleep clinics is not clinically effective. It should be confined to those subjects with OSA when upright forced vital capacity during spirometry is only moderately abnormal, because of the disproportionate diaphragmatic involvement.