title: Hypothyroidism in late-onset Pompe disease.
abstract: OBJECTIVE
  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.
authors.affiliation: Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN, USA; Advanced Therapies Program, University of Minnesota, Fairview, Minneapolis, MN, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Schneider
authors.affiliation: Department of Medicine, Division of Diabetes, Endocrinology and Metabolism, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Lynn A
authors.initials: LA
authors.lastname: Burmeister
authors.affiliation: Division of Biostatistics, University of Minnesota, MN, USA.
authors.forename: Kyle
authors.initials: K
authors.lastname: Rudser
authors.affiliation: Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN, USA; Advanced Therapies Program, University of Minnesota, Fairview, Minneapolis, MN, USA; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Chester B
authors.initials: CB
authors.lastname: Whitley
authors.affiliation: Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN, USA; Advanced Therapies Program, University of Minnesota, Fairview, Minneapolis, MN, USA.
authors.forename: Jeanine
authors.initials: J
authors.lastname: Jarnes Utz
keywords: Acid α-glucosidase enzyme; Glycogen; Hypothyroidism; Late-onset Pompe disease