Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score
(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 pati...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-07-01
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| Series: | Journal of Clinical Medicine |
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| Online Access: | https://www.mdpi.com/2077-0383/10/15/3275 |
| _version_ | 1797525461203419136 |
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| author | Chaitanya Gadepalli Karolina M. Stepien Reena Sharma Ana Jovanovic Govind Tol Andrew Bentley |
| author_facet | Chaitanya Gadepalli Karolina M. Stepien Reena Sharma Ana Jovanovic Govind Tol Andrew Bentley |
| author_sort | Chaitanya Gadepalli |
| collection | DOAJ |
| description | (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 (<i>p</i> < 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. |
| first_indexed | 2024-03-10T09:14:15Z |
| format | Article |
| id | doaj.art-9b1bc6801af647aabe76c7f80203dbb7 |
| institution | Directory Open Access Journal |
| issn | 2077-0383 |
| language | English |
| last_indexed | 2024-03-10T09:14:15Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Clinical Medicine |
| spelling | doaj.art-9b1bc6801af647aabe76c7f80203dbb72023-11-22T05:48:23ZengMDPI AGJournal of Clinical Medicine2077-03832021-07-011015327510.3390/jcm10153275Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway ScoreChaitanya Gadepalli0Karolina M. Stepien1Reena Sharma2Ana Jovanovic3Govind Tol4Andrew Bentley5Ear Nose and Throat Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UKAdult Inherited Metabolic Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UKAdult Inherited Metabolic Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UKAdult Inherited Metabolic Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UKAnaesthetics Department, Salford Royal NHS Foundation Trust, Manchester M6 8HD, UKIntensive Care & Respiratory Medicine, Manchester University NHS Foundation Trust, Wythenshawe Hospital, Manchester M23 9LT, UK(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 (<i>p</i> < 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.https://www.mdpi.com/2077-0383/10/15/3275mucopolysaccharidosesairwayobstructionmanagement |
| spellingShingle | Chaitanya Gadepalli Karolina M. Stepien Reena Sharma Ana Jovanovic Govind Tol Andrew Bentley Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score Journal of Clinical Medicine mucopolysaccharidoses airway obstruction management |
| title | Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score |
| title_full | Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score |
| title_fullStr | Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score |
| title_full_unstemmed | Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score |
| title_short | Airway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score |
| title_sort | airway abnormalities in adult mucopolysaccharidosis and development of salford mucopolysaccharidosis airway score |
| topic | mucopolysaccharidoses airway obstruction management |
| url | https://www.mdpi.com/2077-0383/10/15/3275 |
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