Characterization and predisposing factors for respiratory involvement and use of non-invasive ventilation in patients with facioscapulohumeral muscular dystrophy
J. Vieira Naia (Braga, Portugal), A. Ferreira (Braga, Portugal), A. Pedroso (Braga, Portugal), M. C Silva (Braga, Portugal), D. Rodrigues (Braga, Portugal), D. Pimenta (Braga, Portugal), R. Maré (Braga, Portugal), A. Vieira (Braga, Portugal), J. Cruz (Braga, Portugal), L. Ferreira (Braga, Portugal)
Source: Respiratory Failure and Mechanical Ventilation Conference 2022 - Opening session: Essentials of respiratory physiology - Assessment of respiratory muscle function - Pulmonary infections in mechanically ventilated patients - Telemonitoring of patients with chronic respiratory failure - Diagnostics and interventions - Acute respiratory failure: COVID-19 - Interstitial lung disease and pulmonary hypertension - Early rehabilitation - Acute respiratory failure: Invasive mechanical ventilation - HFNO and NIV for acute hypoxemic failure - Longterm NIV miscellaneous - Controversies in acute respiratory failure - The role of respiratory muscle dysfunction in weaning failure - Transitions in chronic NIV - New insights in weaning from invasive ventilation - Noninvasive ventilation (NIV) in the clinical practice: How do I do it? - Difficult weaning from mechanical ventilation - Chronic ventilatory support in different diseases: Is one way fitting all? - Strategies to optimise early mobilisation and rehabilitation in intensive care - Noninvasive ventilation (NIV) in the clinical practice: How do I do it? - Acute respiratory failure: Hypercapnic and diagnosis - Weaning from mechanical ventilation - Mechanical ventilation in the acute setting - Health-related quality of life in mechanical ventilation - Long-term noninvasive ventilation: Diagnosis and outcome - Long-term noninvasive ventilation: Outcome
Session: Long-term noninvasive ventilation: Outcome
Session type: Oral poster discussion
Number: 130
   
AbstractIntroduction:
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by slowly progressive atrophy and muscle weakness involving the facial, scapular, upper arm, lower leg, and hip girdle muscles.
Respiratory muscle involvement is rare and usually restricted to patients with severe disease.
Objectives:
To characterize FSHD patients, evaluate the presence of respiratory involvement and describe predisposing factors for respiratory failure and use of non-invasive ventilation (NIV).
Methods:
Retrospective analysis of FSHD patients followed in Neurology consultations in a central university hospital.
Results:
A sample of 17 patients was obtained, 52,9% male, with a mean age of 55 ± 18 years. Disease onset varied from 15 to 74 years and most patients presented lower leg and hip girdle muscle weakness. Clinical Severity Scoring (CSS) ranged from 1.5 to 5 (mean 3,5). Thoracic deformities were present in 10 patients (59%): lumbar hyperlordosis (n=7), pectus excavatum (n=5) and kyphoscoliosis (n=3). Five (24%) were wheelchair-bound. Six patients (35%) had altered lung function parameters.
Three patients (18%) required NIV and all presented: thoracic deformities with a restrictive pattern on lung function and sleep apnea (AHI range 9-26); an higher CSS, from 4 to 5 (mean 4,3); use of wheel-chair.
Conclusion:
Patients with respiratory involvement requiring NIV overall presented a more severe disease, according to CSS, thoracic deformities with alterations in lung function and sleep apnea. It remains to explore the clinical heterogeneity of respiratory involvement in FSHD patients.
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J. Vieira Naia (Braga, Portugal), A. Ferreira (Braga, Portugal), A. Pedroso (Braga, Portugal), M. C Silva (Braga, Portugal), D. Rodrigues (Braga, Portugal), D. Pimenta (Braga, Portugal), R. Maré (Braga, Portugal), A. Vieira (Braga, Portugal), J. Cruz (Braga, Portugal), L. Ferreira (Braga, Portugal). Characterization and predisposing factors for respiratory involvement and use of non-invasive ventilation in patients with facioscapulohumeral muscular dystrophy. Respiratory Failure and Mechanical Ventilation Conference 2022 - Opening session: Essentials of respiratory physiology - Assessment of respiratory muscle function - Pulmonary infections in mechanically ventilated patients - Telemonitoring of patients with chronic respiratory failure - Diagnostics and interventions - Acute respiratory failure: COVID-19 - Interstitial lung disease and pulmonary hypertension - Early rehabilitation - Acute respiratory failure: Invasive mechanical ventilation - HFNO and NIV for acute hypoxemic failure - Longterm NIV miscellaneous - Controversies in acute respiratory failure - The role of respiratory muscle dysfunction in weaning failure - Transitions in chronic NIV - New insights in weaning from invasive ventilation - Noninvasive ventilation (NIV) in the clinical practice: How do I do it? - Difficult weaning from mechanical ventilation - Chronic ventilatory support in different diseases: Is one way fitting all? - Strategies to optimise early mobilisation and rehabilitation in intensive care - Noninvasive ventilation (NIV) in the clinical practice: How do I do it? - Acute respiratory failure: Hypercapnic and diagnosis - Weaning from mechanical ventilation - Mechanical ventilation in the acute setting - Health-related quality of life in mechanical ventilation - Long-term noninvasive ventilation: Diagnosis and outcome - Long-term noninvasive ventilation: Outcome
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