Obstructive Sleep Apnea in MPS

Abstract

The mucopolysaccharidoses (MPSs) are a group of inherited, metabolic disorders characterized by progressive multisystem accumulation of partially degraded glycosaminoglycans. This manifests with multilevel airway obstruction, presenting with obstructive sleep apnea (OSA). We systematically reviewed the literature to determine the severity and prevalence of OSA in MPS based on polysomnography analysis. Fifteen studies with 294 participants met the inclusion criteria for review. The pretreatment prevalence of OSA in MPS was 81% with a mean apnea-hypopnea index (AHI) of 10.4. Patients with MPS I are most significantly affected, with 75% suffering with moderate to severe OSA (mean AHI, 16.6). Enzyme replacement therapy (ERT) results in an almost significant reduction in OSA in MPS I (P ¼ .06), while adenotonsillar surgery significantly improves AHI (P ¼ .002). Obstructive sleep apnea least affects MPS III. There is a lack of long-term post-ERT and hematopoietic stem cell transplant data relating to OSA outcomes in this population, with further prospective studies required to determine the ongoing response to treatment.

The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”

“…The LILACS database has previously demonstrated its utility incorporating in systematic review's unique contents, since most of its indexed journals are not indexed in other databases (Clark and Castro, 2001;Clark and Castro, 2002). Accordingly, we found in our study additional systematic reviews in LILACS that were not indexed in other databases (Pal et al, 2015). This was also the case for previous studies performed on MPS and other indications (Pérez-López et al, 2017;Sampayo-Cordero et al, 2018;Sampayo-Cordero et al, 2019;Mösges et al, 2019).…”

“…MPS, Mucopolysaccharidosis; ERT, Enzyme replacement therapy. a One systematic review included all types of MPS patients to evaluate the pretreatment and posttreatment prevalence and severity ( Pal et al, 2015 ). This systematic review did not include outcomes of ERT for MPSIII and MPS IV.…”

“…The studies excluded are considered with a low level of evidence or inappropriate to cover the research question ( El Dib and Pastores, 2007 ; El Dib, 2009 ; Brunelli et al, 2016 ; da Silva et al, 2016 ; Jameson et al, 2019 ). The second approximation was to summarize the results of the studies with different designs and discuss the results qualitatively ( Alegra et al, 2013 ; Pal et al, 2015 ; Schrover et al, 2017 ; Gomes et al, 2019 ). The third method was to combine the results of studies with different designs qualitatively, based on a method to assess the strength of the evidence (very low, low, moderate, and high) for each outcome.…”

“…The second approximation was to summarize the results of the studies with different designs and discuss the results qualitatively ( Alegra et al, 2013 ; Pal et al, 2015 ; Schrover et al, 2017 ; Gomes et al, 2019 ).…”

Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries

“…Overall the trends in Latin America were aligned with the international MPS guidelines and recommendations [ 9 , 10 , 43 ]. Use of respiratory, cardiovascular and pain medications was prevalent in this region, corroborating with the early symptoms of pain and cardiorespiratory complications in MPS [ 6 , 44 ]. Concomitant medication use was higher in MPS-VI than MPS-IVA patients, due to the higher percentage of complications.…”