G.P.112 The diagnostic pathway in adult onset Pompe disease

Abstract

Abstract Pompe disease (PD) is an autosomal recessive disease due to a deficiency in lysosomal acid α glucosidase (GAA). The adult onset form is characterized by progressive weakness in limb, axial and respiratory muscles leading to motor disability and respiratory failure. The existence of enzyme replacement therapy (ERT) necessitates a rapid recognition of this disease because starting the treatment at an early stage can delay or stop its natural progression. Initial symptoms can be subtle and difficult to recognize. This results in significant diagnosis delays (over 10 years). In more advanced stages PD may resemble other neuromuscular diseases. In order to learn more about the diagnostic process in PD, we conducted a telephone survey. Nineteen patients (age 17–81) with confirmed PD and/or their close relatives were interviewed in order to understand diagnostic paths and difficulties. In 78% of the cases the diagnosis was made by a neurologist. Patients consulted as many as six different specialists before diagnosis (0.7 visits/year average). 53% to a GP in the first consultation. Delay for diagnosis ranged from 2.5 months to 40 years. The method most often used for diagnosis was enzyme assay in lymphocytes. There was no suspicion of the diagnosis unless VC was significantly reduced or there was respiratory insufficiency. Main diagnoses evoked were herniated disk, multiple sclerosis, anorexia nervosa, myositis, tiredness, muscular dystrophy, chronic fatigue syndrome among others. AOPD may present in many different ways. Many different specialists are consulted for different symptoms and the diagnosis pathway can be followed. Delays in diagnosis can run up to decades. Many conclusions can be drawn from this type of survey, which may help in the future to detect patients in early stages of the disease when they could obtain greater benefit from treatment.