090 The expanding clinical phenotype of late onset pompe disease: a multi-system disorder

Abstract

IntroductionThe diagnosis of late onset Pompe disease (LOPD) can be difficult and delayed due to heterogeneous presentation. LOPD was typically a triad of weakness affecting the limb girdle, respiratory and axial muscles. Recent reports highlight more widespread, less well recognised, multi system manifestations of LOPD.CasesThree clinical cases of LOPD are described with atypical presenting manifestations for many years, who after diagnosis and investigation all qualified for enzyme replacement therapy. A review of the literature on the manifestations of LOPD is presented. These three clinical cases highlight important clues and pitfalls in making a diagnosis of LOPD when there are subtle presenting symptoms for many years on history, examination or investigations. The literature review has broadened our clinical perspective with reports of multi-system manifestations of LOPD. The manifestations of LOPD may be seen by clinicians in a wide variety of fields including neurology, stroke, rheumatology, gastroenterology, cardiovascular, respiratory, genitourinary and metabolic bone medicine. LOPD will present to a wide variety of specialists with symptoms, who may not be aware of this potential diagnosis. These reports will change our concept of what is LOPD and encourage investigation for this disorder. The dried blood spot testing for diagnosis of LOPD is beneficial, cost effective and non-invasive.ConclusionLOPD is an under diagnosed and often misdiagnosed neuromuscular disorder which is now recognised as having other associated multi-system features which can be identified on history, examination or laboratory findings. These patients may present to a wide variety of health professionals with symptoms and greater awareness in needed. Early diagnosis of patients with LOPD disease will allow better management, prevent complications and may improve outcomes now that enzyme replacement therapy is available for certain individuals.