Avaliação polissonográfica de pacientes com mucopolissacaridoses atendidos no Hospital Universitário Alcides Carneiro - HUAC.

Abstract

Background: Mucopolysaccharidoses (MPS) are rare diseases characterized by the accumulation of glycosaminoglycans in organs and tissues, with multisystemic, chronic and progressive clinical picture. All types of MPS may present respiratory findings, including airway obstruction during sleep, whose intensity is variable and may lead to death. Full-night polysomnography (PSG) is a noninvasive test that evaluates physiological variables during sleep and provides data on airway obstruction. Objectives and Method: In order to determine clinical and polysomnographic profile of patients with mucopolysaccharidoses IVA and VI followed by Medical Genetics of the University Hospital Alcides Carneiro (HUAC), a longitudinal, retrospective observational study was performed, based on the analysis of 31 medical records and polysomnography exams performed at the Hospital João XXIII. Echocardiography results were also analyzed. Results: There were 19/31 records of patients with MPS IVA and 12/31 with MPS VI, with a mean age of 21.5 years, mostly adults (61,3%) and females (71,0%), from 17 cities of Paraíba. Prevalence of Obstructive Sleep Apnea Syndrome (OSAS) in the sample analyzed was 80.6%, with MPS IVA (73.7%) and VI (91.6%) and 100% in patients under 18 years. There was no significant difference in the presence of OSAS between the two types of MPS. Apnea-hypopnea index (AHI) ≥ 30 in patients ≥ 18 years and AHI ≥ 10 in children under 18 years characterized severe cases of OSAS, which were more frequent in MPS VI (50%), whereas mild cases (AHI < 5 in patients under 18 years of age and AHI <10 in patients 18 years of age or older had a higher frequency in MPS IVA (63.2%). There was no significant difference in the polysomnographic parameters between the group of patients receiving enzyme replacement therapy (ERT) and the group without ERT for the two types of MPS in our sample. Echocardiographic analysis did not show pulmonary hypertension in the 19 patients with MPS IVA. Discussion: There was a high prevalence of OSAS in the MPS IVA and VI types of MPS. Morquio A syndrome (or MPS IVA), predominant in the sample, explains lowering of the mean of OSAS, considering the two types of MPS evaluated. A German observational study showed a reduced frequency of pulmonary hypertension in Morquio A patients, in opposition to the high frequency of pulmonary hypertension observed in studies with other types of MPS. Conclusion: Prevalence of OSAS in MPS was high, especially in type VI, and in pediatric patients, indicating its screening in the follow-up of patients with MPS.