Pulmonary Care for Patients with Mitochondrial Disorders
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1 Pulmonary Care for Patients with Mitochondrial Disorders Rajeev Bhatia, MD, MBBS, DCH, FAAP Pediatric Pulmonologist Assistant Professor of Pediatrics, NEOMED Medical Director, Clinical Exercise Physiology Lab Akron Children s Hospital, OH United Mitochondrial Disease Foundation National Symposium June 19 th, 2015
2 Learn about How mitochondrial disorders can affect respiratory health? What are the clinical presentations? How to manage these pulmonary complications of mitochondrial disorders?
3 Introduction Typically mitochondrial disorders do not affect the lungs directly However, respiratory symptoms are fairly common These complications are not unique and can be seen in variety of other disorders with muscle weakness
4 Pathogenesis Musculoskeletal System Gastrointestinal system Cardiovascular system Central nervous system
5 Musculoskeletal System Functions of respiratory muscles Abnormalities lead to- Impaired coughing Impaired swallowing and aspiration Obstructive Sleep apnea and/or hypoventilation Respiratory failure
6 Impaired cough Inability to clear secretions from the lower airways Chronic inflammation Chronic colonization of the airways
7 Impaired swallowing Weakness of oropharyngeal muscles Chronic aspiration Chronic bronchitis and recurrent pneumonia
8 Sleep disturbances Upper airway obstruction - Obstructive sleep apnea Hypoventilation leads to increased CO 2 in the blood
9 Respiratory failure Shallow breathing leads to atelectasis (a complete or partial collapse of a lobe of a lung) Complete lung collapse Scoliosis further exacerbates the problem
10 Gastrointestinal dysfunction Dysmotility, GERD, vomiting GERD- chronic rhino-sinusitis, hoarseness, chronic cough, asthma, recurrent pneumonia Abdominal distention - impair chest wall expansion
11 Cardiovascular system Cardiomyopathy leads to congestive heart failure and pulmonary edema Pulmonary edema prevents gas exchange Makes lungs stiff Can lead to respiratory failure
12 Central Nervous System Acute complication - Apnea during an episode of seizure Chronic complications swallow dysfunction central sleep apnea - brainstem involvement
13 Clinical Presentations Noisy breathing Hoarseness/stridor Chronic cough Unusual breathing patterns Sleep disturbance Exercise intolerance
14 Diagnostic studies Chest X-ray Pulmonary function testing Modified Barium swallow study Sleep study Cardiopulmonary Exercise Testing Bronchoscopy with broncho-alveolar lavage
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17 Management Strongly advisable to have pulmonary evaluation and regular follow ups Goals are very similar to those in other muscle disorders
18 Goals Prevention of atelectasis Improved clearance of lower airway secretions Early treatment of complication factors Escalation of treatment Improved exercise tolerance
19 Prevention of atelectasis Early introduction of CPAP or BiPAP Better lung expansion during sleep prevents atelectasis during the day
20 Improved airway clearance Chest physical therapy VEST Cough assist device
21 Early treatment GERD Respiratory infections Lower threshold for antibiotics
22 Escalation Tracheostomy Chronic home mechanical ventilation
23 Take home messages Respiratory complications are common Evaluation by pulmonologist and regular follow ups are strongly recommended Atelectasis, impaired airway clearance and sleep related breathing disorders are common problems Early intervention is the key to prevent respiratory complications
24 References Anastassios C. Koumbourlis, M.D., M.P.H. - Mito-101 Pulmonary complications of mitochondrial disorders Scaglia F, Towbin JA, Craigen WJ, Belmont JW, O Brian Smith E, Neish SR, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; Debray FG, Lambert M, Chevalier I, Ribitaille Y, Decarie JC, Shoubridge EA, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with Mitochondrial diseases. Pediatrics 2007; 119: Finder JD, Birnkrant D, Carl J, Farber HJ et al. American Thoracic Society. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170(4):
25 Thanks!
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