Abstract
Purpose In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe disease commonly complain of chronic fatigue and generalized muscle weakness prior to being diagnosed with Pompe disease, and this may lead to consideration of hypothyroidism in the differential diagnosis. This study aimed to evaluate the prevalence of hypothyroidism in the adult-onset form of Pompe disease. Methods Electronic chart review was performed at the Advanced Therapies Clinic at the University of Minnesota Medical Center (UMMC) to identify patients with late-onset Pompe disease. The identified charts were reviewed for a co-diagnosis of hypothyroidism. A query was made to the clinical data repository at UMMC searching diagnosis ICD9 code 244.9 (hypothyroidism not otherwise specified) and/or presence of levothyroxine from 2011 to 2014 in patients 18 years of age and older. Results The clinical data repository found a prevalence of hypothyroidism of 3.15% (56,072 of 1,782,720 patients) in the adult patient population at UMMC. Ten adult patients with Pompe disease were identified, five with the diagnosis of hypothyroidism (50%, 95% CI: 23.7, 76.3, p < 0.001 compared with the general UMMC adult population). Conclusions Hypothyroidism was found at a higher prevalence in patients with late-onset Pompe disease compared to the general adult population at UMMC. Studies in larger populations of patients with Pompe disease would be needed to confirm an association of Pompe disease and hypothyroidism. Challenges include finding an adequate sample size, due the rarity of Pompe disease.
Original language | English (US) |
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Pages (from-to) | 24-27 |
Number of pages | 4 |
Journal | Molecular Genetics and Metabolism Reports |
Volume | 8 |
DOIs | |
State | Published - Sep 1 2016 |
Bibliographical note
Funding Information:Dr. Schneider is a Post-doctoral Fellow at the University of Minnesota supported by an unrestricted educational grant from Genzyme, a Sanofi company, and by the National Institutes of Health Lysosomal Disease Network (U54NS065768) which is a part of the Rare Diseases Clinical Research Network (RDCRN), supported through collaboration between the NIH Office of Rare Diseases Research (ORDR) at the National Center for Advancing Translational Science (NCATS), the National Institute of Neurological Disorders and Stroke (NINDS) and National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).
Funding Information:
Dr. Rudser's effort on this is supported in part by the Lysosomal Disease Network (U54NS065768) and also NCATS award UL1TR0000114. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The investigators wish to thank Evelyn Redtree, M.S. for editorial support.
Publisher Copyright:
© 2016 The Authors
Keywords
- Acid α-glucosidase enzyme
- Glycogen
- Hypothyroidism
- Late-onset Pompe disease