Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I

Pamela Arn, Iain A Bruce, James E Wraith, Helen Travers, Shari Fallet, Pamela Arn, Iain A Bruce, James E Wraith, Helen Travers, Shari Fallet

Abstract

Objective: Mucopolysaccharidosis I (MPS I) is a progressive, debilitating, and life-threatening genetic disease, which, owing to the nonspecific nature of the early symptoms, is often unrecognized and associated with significant diagnostic delays. To improve early recognition leading to early diagnosis and initiation of treatment, we characterized the extent of airway-related symptoms and surgeries among patients with MPS I.

Methods: Analysis of the frequency of airway-related symptoms and surgeries from 1041 patients enrolled in the MPS I Registry and correlation with other systemic manifestations of MPS I.

Results: Airway-related symptoms (macroglossia, enlarged tonsils, reactive airway disease/asthma, or sleep disturbances) were reported for as many as 85% of Hurler, 83% of Hurler-Scheie, and 65% of Scheie patients-very often before the diagnosis of MPS I was established. Surgeries for an airway indication were reported in 39% of patients and many had at least 1 airway-related surgery before the diagnosis of MPS I was confirmed. The mean percentage of patients with airway-related symptoms for whom hernias and/or dysostosis multiplex were also reported was 84% and 54%, respectively.

Conclusion: Airway-related symptoms and surgeries are common and often the earliest presenting feature in MPS I. Improved recognition of early MPS I disease manifestations may lead to earlier diagnosis and treatment.

Keywords: airway; mucopolysaccharidosis I; registries; surgeries; symptoms.

Conflict of interest statement

Declaration of Conflicting Interests: The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: P.A. was the chair of the North American Board of Advisors, and a member of the International Board of Advisors, for the MPS I Registry. I.A.B. has spoken as an unpaid invited speaker at medical meetings on MPS that were sponsored by Genzyme, a Sanofi company. H.T. and S.F. are employees of Genzyme.

© The Author(s) 2014.

Figures

Figure 1.
Figure 1.
(A) Macroglossia in a child with mucopolysaccharidosis type I (MPS I). (B) Anatomical features complicating anesthesia in MPS I: large head and short stiff neck (written permission obtained and held by institution’s medical illustration department). (C) Laryngopharyngeal deposits in MPS I. (D) Significant laryngeal obstruction in MPS I. (E) Tracheomalacia in MPS. (F) Tracheal narrowing due to MPS deposit within the tracheal lumen.
Figure 2.
Figure 2.
Proportion of patients with airway-related symptoms reported. The percentages of patients with macroglossia, enlarged tonsils, reactive airway disease/asthma, and sleep disturbances were determined among all patients for whom a “yes/no” response was recorded in the registry. Symptom frequency is shown by phenotype for Hurler, Hurler-Scheie, and Scheie patients.
Figure 3.
Figure 3.
Proportion of patients with airway-related symptoms reported prior to diagnosis of mucopolysaccharidosis type I. Percentages were assessed by phenotype among patients with known symptom-onset and diagnosis dates.
Figure 4.
Figure 4.
Airway-related surgeries among mucopolysaccharidosis type I patients. The percentages of patients with adenoidectomy/tonsillectomy, tracheostomy, bronchoscopy, or “other airway-related procedure” reported were assessed among 246 Hurler, 99 Hurler-Scheie, and 45 Scheie patients.
Figure 5.
Figure 5.
Frequency of airway-related surgeries prior to diagnosis of mucopolysaccharidosis type I (MPS I). Percentages were assessed by phenotype among patients with airway-related procedures reported along with MPS I diagnosis and surgery dates.

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