Airways and Respiration
Many patients with MPS VI develop obstruction in the upper airways, especially due to thickened
tongue, short neck, enlarged tonsils and adenoids, narrowing of the trachea and redundant tissue
of the nasopharynx. As a result, labored or loud breathing and snoring are common, and in some
patients progressive obstruction leads to sleep apnea and associated cor pulmonale. Pulmonary
function tests reveal abnormally low forced vital capacity (FVC), forced expiratory volume in 1
second (FEV1), and peak expiratory flow (PEF).1-3
Recurrent sinopulmonary infections are common in individuals
with MPS VI. Factors contributing to these infections include
obstructive airway disease, restricted respiration due to
skeletal abnormality and organomegaly, and excessive and
thickened secretions.1,3-5
- Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D,
eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-
Hill; 2001:3421-3452.
- Fletcher J, Pamula Y, Martin AJ. Reversing respiratory disease in MPS: lessons from bone marrow
transplantation. Poster accessed at www.chempathadelaide.com.au.
- Swiedler SJ, Beck M, Bajbouj M, et al. Threshold effect of urinary glycosaminoglycans and the walk
test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI
(Maroteaux-Lamy syndrome). Am J Med Genet. In press.
- MPS I survey results: patterns in the referral, diagnosis, and management of individuals with MPS I.
National MPS Society and Genzyme Corporation. April 2004. Available at:
http://www.mpssociety.org/content/4010/Library/.
- Bredenkamp JK, Smith ME, Dudley JP, et al. Otolaryngologic manifestations of the
mucopolysaccharidoses. Ann Otol Rhinol Laryngol. 1992;101:472-478.
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