Abstract
(1) Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders caused by the absence of enzymes required for degradation of glycosaminoglycans (GAGs). GAGs deposition in tissues leads to progressive airway narrowing and/or tortuosity. Increased longevity of patients has posed newer problems, especially the airway. This study aims to characterise various airway abnormalities in adult MPS from a regional centre and proposes a method to quantify the severity of the airway disease. (2) Methods: Retrospective analysis by case notes review, clinical examination, endoscopy, cross-sectional imaging, 3-dimensional reconstruction, and physiological investigations were used to assess the airway abnormalities. Quantitative assessment of the airway severity was performed a validated questionnaire of 15 parameters to derive Salford Mucopolysaccharidosis Airway Score (SMAS). (3) Results: Thirty-one adult MPS patients (21M/ 9F; median 26.7 years; range 19–42 years) were reviewed. There were 9 MPS I, 12 MPS II, 2 MPS III, 5 MPS IV, 2 MPS VI, and 1 MPS VII. Airway abnormalities in each MPS type are described. Patients scoring more than 35 on SMAS had some form of airway intervention. The area under curve of 0.9 was noted at a score of 25, so SMAS more than 25 may predict a difficult airway and potential to have complications. Pearson’s correlation between SMAS and height, weight, BMI were poor (p < 0.05). (4) Conclusions: Airway abnormalities in adult MPS are varied and complex. Assessment of the airway should be holistic and include multiple parameters. An objective multidimensional score such as SMAS may help to predict and manage difficult airways warranting further investigation and validation.
Highlights
Mucopolysaccharidoses (MPS) are rare, inherited, lysosomal storage diseases with a combined incidence of 1 in 22,000 [1]
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MPS can be grouped into four broad categories according to their dominant clinical features: (1) MPS I, II, and VII affect soft tissue storage and the skeleton with or without intracranial involvement; (2) MPS VI affects both soft tissues and the skeleton; (3) MPS IVA and IVB are primarily associated with skeletal disorders; and (4) MPS III A–D
Summary
Mucopolysaccharidoses (MPS) are rare, inherited, lysosomal storage diseases with a combined incidence of 1 in 22,000 [1]. Lysosomal hydrolase enzyme deficiencies result in accumulation of glycosaminoglycans (GAGs), leading to structural abnormalities and organ dysfunction that can increase the risk of anaesthesia complications [2]. Depending on the type of MPS, glycosaminoglycan accumulations can occur in various organs, resulting in cardiovascular, pulmonary, gastrointestinal, neurologic, and musculoskeletal dysfunction (Table 1) [3]. MPS can be grouped into four broad categories according to their dominant clinical features: (1) MPS I, II, and VII affect soft tissue storage and the skeleton with or without intracranial involvement; (2) MPS VI affects both soft tissues and the skeleton;. (3) MPS IVA and IVB are primarily associated with skeletal disorders; and (4) MPS III A–D primarily affects the central nervous system [4].
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