Pain in adult patients with Pompe disease

• Published in: Molecular genetics and metabolism 2013-08, Vol.109 (4), p.371-376
• Main Authors: Güngör, D., Schober, A.K., Kruijshaar, M.E., Plug, I., Karabul, N., Deschauer, M., van Doorn, P.A., van der Ploeg, A.T., Schoser, B., Hanisch, F.
• Format: Article
• Language: English
• Subjects: Acid maltase deficiency; Acid α-glucosidase; Glycogen storage disease type 2; Lysosomal storage disorders; Pain; Pompe disease
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2013.05.021

Pompe disease is a rare hereditary metabolic myopathy caused by a deficiency of acid-α-glucosidase. We investigated the presence and severity of pain and its interference with daily activities in a large group of adults with Pompe disease, who we compared with an age-matched control group. Data were collected in a cross-sectional survey in Germany and The Netherlands. Pain was assessed using the short-form brief pain inventory (BPI). Patients also completed the Short Form-36 item (SF-36v2), the Hospital Anxiety and Depression Scale (HADS) and the Rotterdam Handicap Scale (RHS). Forty-five percent of the 124 adult Pompe patients reported having had pain in the previous 24h, against 27% of the 111 controls (p=0.004). The median pain severity score in Pompe patients reporting pain was 3.1 (on a scale from 0 to 10), indicating mild pain; against 2.6 amongst controls (p=0.06). The median score of pain interference with daily activities in patients who reported pain was 3.3, against 1.3 in controls (p=0.001). Relative to patients without pain, those with pain had lower RHS scores (p=0.02), lower SF-36 Physical and Mental component summary scores (p