SILVA, D. A. G.; SIQUEIRA, H. R. F.; SILVA, Diego Arley Gomes da.; SIQUEIRA, Hiloma Rayssa Fernandes.
Resumo:
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.