TY - JOUR
T1 - Pain in adult patients with Pompe disease
T2 - A cross-sectional survey
AU - Güngör, D.
AU - Schober, A. K.
AU - Kruijshaar, M. E.
AU - Plug, I.
AU - Karabul, N.
AU - Deschauer, M.
AU - van Doorn, P. A.
AU - van der Ploeg, A. T.
AU - Schoser, B.
AU - Hanisch, F.
N1 - Funding Information:
FH and MD have received lecturers' fees from the Genzyme Corporation, a Sanofi Company. BS has received lecturer's fees from the Genzyme Corporation, a Sanofi Company, and is a member of the global advisory board for Pompe disease at the Genzyme Corporation. Research on Pompe disease at Erasmus MC is financially supported by the following parties: ZonMw — The Netherlands Organisation for Health Research and Development [project no. 152001005 ]; the Dutch TI Pharma initiative “Sustainable Orphan Drug Development through Registries and Monitoring” ( T6-208 ); “ EUCLYD — a European Consortium for Lysosomal Storage Diseases ” (health F2/2008 grant agreement 201678 ); the Prinses Beatrix Fonds [project no. OP07-08 ]; and Genzyme Corporation , Cambridge, MA, USA. Since August 2004, ATvdP and AJJR have provided consulting services for Genzyme Corporation, under an agreement between Genzyme Corporation and Erasmus MC, Rotterdam, The Netherlands. This agreement also covers financial support for Erasmus MC to pursue research in the field of Pompe disease. Erasmus MC and the inventors of the method for treating Pompe disease by enzyme replacement therapy receive royalty payments pursuant to Erasmus MC policy on inventions, patents and technology transfer. None of the other authors report conflicts of interest. The funders of the study had no role in the design and conduct of the study, data collection, data management, data analysis, data interpretation, or preparation, review, or approval of the manuscript.
PY - 2013/8
Y1 - 2013/8
N2 - Background: 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. Methods: 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). Results: Forty-five percent of the 124 adult Pompe patients reported having had pain in the previous 24. h, 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. <. 0.001 and p. = 0.049), and higher levels of depression and anxiety (p. = 0.005 and p. = 0.003). Conclusions: To date, this is one of the largest studies on pain in a specific neuromuscular disorder. Nearly one in two Pompe patients had experienced pain in the previous 24. h. Although pain severity and its interference with daily life were mild, pain was related to a reduced quality of life, less participation in daily life, and greater depression and anxiety. Its management should therefore be seen as part of clinical practice involving Pompe patients.
AB - Background: 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. Methods: 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). Results: Forty-five percent of the 124 adult Pompe patients reported having had pain in the previous 24. h, 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. <. 0.001 and p. = 0.049), and higher levels of depression and anxiety (p. = 0.005 and p. = 0.003). Conclusions: To date, this is one of the largest studies on pain in a specific neuromuscular disorder. Nearly one in two Pompe patients had experienced pain in the previous 24. h. Although pain severity and its interference with daily life were mild, pain was related to a reduced quality of life, less participation in daily life, and greater depression and anxiety. Its management should therefore be seen as part of clinical practice involving Pompe patients.
KW - Acid maltase deficiency
KW - Acid α-glucosidase
KW - Glycogen storage disease type 2
KW - Lysosomal storage disorders
KW - Pain
KW - Pompe disease
UR - http://www.scopus.com/inward/record.url?scp=84880824916&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2013.05.021
DO - 10.1016/j.ymgme.2013.05.021
M3 - Article
C2 - 23849261
AN - SCOPUS:84880824916
SN - 1096-7192
VL - 109
SP - 371
EP - 376
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 4
ER -
