Abstract
Introduction: Pompe disease is a rapidly progressive, multisystemic genetic disease that causes muscle involvement (skeletal, cardiac and smooth), severe hypotonia and difficulty in swallowing. Due to the nature of the disease, the quality of life may be more affected compared to the general population.
Method: A descriptive cross-sectional study was carried out. A survey-type instrument was designed with questions of sociodemographic characterization and those referring to the disease. To measure Quality of Life, the Medical Outcomes Study 36-Item Short Form (SF-36) questionnaire was applied. A comparison was made between groups with a significance level of 0,05.
Results: 27 surveys of patients from six countries were obtained. The mean age 40.52 years, women 59?%, married 51?%, 63?% active in employment, with a mean age of diagnosis of 30.3 years (SD=15,557).The dimension with the lowest mean was the Physical Role (10.2; 95?% CI = 1.5 - 21.9), while the one with the highest mean was the Mental Health dimension (65.5; 95?% CI = 56.9 - 74.0). 29.7?% (95?% CI = 11.2 - 48.0) of those surveyed considered they felt in worse health conditions than the previous year.
Discussion: Low quality of life is evidenced in patients with PD in comparison to the general population described in other studies using the same questionnaire.
Conclusions: A low quality of life is evidenced in the study individuals where the dimensions related to the physical area were lower.
References
Aslan GK, Huseyinsinoglu BE, Oflazer P, Gurses N, Kiyan E. Inspiratory muscle training in late-onset pompe disease: the effects on pulmonary function tests, quality of life, and sleep quality. Lung. 2016;194(4):555-61. https://doi.org/10.1007/s00408-016-9881-4
Corrado B, Ciardi G, Iammarrone CS. Rehabilitation management of Pompe disease, from childhood trough adulthood: A systematic review of the literature. Neurol Int. 2019;11(2):7983. https://doi.org/10.4081/ni.2019.7983
Dasouki M, Jawdat O, Almadhoun O, Pasnoor M, Mcvey A, Abuzinadah A et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32(3):751-ix. https://doi.org/10.1016/j.ncl.2014.04.010
Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics. 2018;15(4):928-42. https://doi.org/10.1007/s13311-018-0655-y
Marsden D. Infantile onset Pompe disease: A report of physician narratives from an epidemiologic study. Genet Med. 2005;7:147-50. https://doi.org/10.1097/01.GIM.0000154301.76619.5C
Hirschhorn R, Reuser AJJ. Glycogen storage disease type ii: Acid alpha-glucosidase (acid maltase) deficiency. En: Schriver RC, Beaudet AL, Sly WS, Valle D, editores. The metabolic and molecular bases of inherited disease. Nueva York: McGraw-Hill; 2001. p. 3389-420.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8:267-88. https://doi.org/10.1097/01.gim.0000218152.87434.f3
Boentert M, Karabul N, Wenninger S, Dräger B, Mengel E, Schoser B et al. Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease. Eur J Neurol. 2015;22(2):369-e27. https://doi.org/10.1111/ene.12582
Desnuelle C, Salviati L. Challenges in diagnosis and treatment of late-onset Pompe disease. Curr Opin Neurol. 2011;24(5):443-8. doi:10.1097/WCO.0b013e32834a1e00 https://doi.org/10.1097/WCO.0b013e32834a1e00
Wokke JH, Escolar DM, Pestronk A, Jaffe KM, Carter GT, van den Berg LH, et al. Clinical features of late-onset Pompe disease: A prospective cohort study. Muscle Nerve. 2008;38:1236-45. https://doi.org/10.1002/mus.21025
Güngor D. Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. J Inherit Metab Dis. 2016;39:253-60. https://doi.org/10.1007/s10545-015-9889-6
Hagemans ML, Laforêt P, Hop WJ, Merkies IS, Van Doorn PA, Reuser AJ et al. Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale. Neuromuscul Disord. 2007;17(7):537-43. https://doi.org/10.1016/j.nmd.2007.03.006
Ware JE, Sherbourne CA, Davies AA. A short-form general health survey. Santa Monica, CA: RAND Corporation;1988.
Stewart AL, Hays R, Ware JE. The MOS short-form general health survey. Reliability and validity in a patient population. Med Care 1988;26:724-32. https://doi.org/10.1097/00005650-198807000-00007
Alonso J, Prieto L, Antó JM. La versión española del SF-36 Health Survey (Cuestionario de salud SF-36): un instrumento para la medida de los resultados clínicos. Med Clin (Barc) 1995;104:771-6.
IMIN - Institut Municipal d'Investigació Mèdica. Manual de puntuación de la versión española del Cuestionario de Salud SF-36 [consultado el 5 de enero del 2020].
Ware JE Jr, Kosinski M, Gandek B, Aaronson NK, Apolone G, Bech P et al. The factor structure of the SF-36 Health Survey in 10 countries: results from the IQOLA Project. International Quality of Life Assessment. J Clin Epidemiol. 1998;51(11):1159-65. https://doi.org/10.1016/S0895-4356(98)00107-3
Hagemans ML, Janssens AC, Winkel LP, Sieradzan KA, Reuser AJ, Van Doorn PA et al. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology 2004;63:1688-92. https://doi.org/10.1212/01.WNL.0000142597.69707.78
Kohler L, Puertollano R, Raben N. Pompe disease: from basic science to therapy. Neurotherapeutics. 2018;15(4):928-42. https://doi.org/10.1007/s13311-018-0655-y
Rodríguez M, Castro M, Merino J. Calidad de vida en pacientes renales hemodializados. Cienc Enferm [Internet]. 2005;11(2):47-55. http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95532005000200007&lng=es [consultado el 21 de mayo del 2021]. https://doi.org/10.4067/S0717-95532005000200007
Ruiz de Velasco I, Quintana J, Padierna J, Aróstegui I, Bernal A, Pérez Izquierdo J, et al. Validez del cuestionario de calidad de vida SF-36 como indicador de resultados de procedimientos médicos y quirúrgicos. Rev Calidad Asistencial. 2002;17:206-12. https://doi.org/10.1016/S1134-282X(02)77506-4
Bousquet J, Knani J, Dhivert H, Richard A, Chicoye A, Ware JE Jr et al. Quality of life in asthma. I. Internal consistency and validity of the SF-36 questionnaire. Am J Respir Crit Care Med. 1994;149(2 Pt 1):371-5. https://doi.org/10.1164/ajrccm.149.2.8306032
Singer MA, Hopman WM, MacKenzie TA. Physical functioning and mental health in patients with chronic medical conditions. Qual Life Res. 1999;8(8):687-91. https://doi.org/10.1023/A:1008917016998
Chen S, Wang J, Zhu J, Chung RY, Dong D. Quality of life and its contributors among adults with late-onset Pompe disease in China. Orphanet J Rare Dis. 2021;16(1):199. https://doi.org/10.1186/s13023-021-01836-y
Toscano A, Rodolico C, Musumeci O. Multisystem late onset Pompe disease (LOPD): an update on clinical aspects. Ann Transl Med. 2019;7(13):284. https://doi.org/10.21037/atm.2019.07.24
Zhao Y, Wang Z, Lu J, Gu X, Huang Y, Qiu Z et al. Characteristics of Pompe disease in China: a report from the Pompe registry. Orphanet J Rare Dis. 2019;14(1):78. https://doi.org/10.1186/s13023-019-1054-0
Schoser B, Bilder DA, Dimmock D, Gupta D, James ES, Prasad S. The humanistic burden of Pompe disease: are there still unmet needs? A systematic review. BMC Neurol. 2017;17(1):202. https://doi.org/10.1186/s12883-017-0983-2
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