Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I

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.

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome

“…This data is congruent with the reports from HOS wherein the prevalence of cardiac involvement is high among these patients and that valvular disease is the most common finding [12, 14]. Given this, physicians should aggressively assess the cardiac function of these children and evaluate them for other reported cardiac findings such as hypertension, arrhythmia and congestive heart failure as these pose a significant cause of morbidity and mortality [15].…”

“…These two conditions may be due to the reactive airway disease that happens when there is mucosal swelling, GAG accumulation, and inflammation in the nasal passages or bronchi of patients with Hunter syndrome as what is also similarly seen in other types of mucopolysaccharidosis [14]. The high incidence of airway obstruction and sleep apnea found in this case series should alert the physicians in suspecting and recognizing a possible mucopolysaccharidosis when such symptoms are seen.…”

Successful spinal anesthesia in a patient with mucopolysaccharidosis type I under femoral fracture reduction and external fixation

“…In this case, the patient had complex findings suggesting that sevoflurane inhalational induction combined with spinal anesthesia without tracheal intubation would be the best management option. Respiratory management was difficult, which was consistent with some recently reported case series of patients with MPS .…”

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

“…Upper airway related symptoms (macroglossia, enlarged adenoids and tonsils, reactive airway disease/asthma, recurrent otitis or sleep disturbances) are very frequent in all types of MPSs [2,130]. They are reported in 65% to 85% of patients in the MPS I registry [131]. Timpanostomy, adenoidectomy and tonsillectomy are reported in 51%, 49%, and 35%, respectively, of the patients enrolled in Hunter Outcome Survey (HOS), and 45%, 42% and 29%, respectively, of those surgical interventions were performed very early in life before the diagnosis of MPS II [132].…”