Bronchiectasis, primary ciliary dyskinesia, cystic fibrosis.pptx

This presentation is about BRONCHIECTASIS, PRIMARY CILIARY DYSKINESIA AND CYSTIC FIBROSIS definition, medical management and physiotherapy for each condition. these are the lung conditions with sufficient information. There are also Signs and symptoms of above mention diseases.

1. BRONCHIECTASIS, PRIMARY CILIARY DYSKINESIA AND CYSTIC FIBROSIS Medical management & Physiotherapy Dr. A qsa P ervaiz (DPT) HIRM

2. Bronchiectasis Definition : Chronic dilation of one or more bronchi. Causes : Congenital (e.g., primary ciliary dyskinesia, cystic fibrosis). Acquired (e.g., infections like pertussis, tuberculosis, pneumonia, hypogammaglobulinemia ). Other: Tumors, foreign bodies, allergic bronchopulmonary aspergillosis . Pathophysiology : Bronchial wall damage due to inflammation. Increased mucus-secreting glands. Varicose anastomoses in bronchial circulation.

3. Clinical Features & Investigations Symptoms : Cough, purulent sputum, wheezing, haemoptysis , breathlessness. Finger clubbing (rare without cystic fibrosis), chest pain, fever. Investigations : Chest X-ray (bronchial thickening, loss of volume, cystic shadows). High-resolution CT (preferred diagnostic tool). Sputum culture, bronchoscopy, lung function tests, serum immunoglobulins , sweat test (for cystic fibrosis). Nasomucociliary clearance test to detect cilial defects.

4. Medical Management of Bronchiectasis 1. Antibiotic Therapy: For infective exacerbations and sometimes long-term prophylaxis. Patients may be prescribed antibiotics for immediate use during infective episodes. 2. Bronchodilators & Steroids: Bronchodilators for bronchospasm, especially before physiotherapy. Inhaled corticosteroids to reduce inflammation and minimize bronchodilator use. 3. Topical Medication: Recommended for chronic mucopurulent rhinosinusitis . Inhalation technique: Head-down and forward for better drug deposition in sinuses.

5. Immunoglobulin Replacement Therapy: Given to patients with immunodeficiencies to prevent further lung damage. 5. Surgical Intervention: Surgical resection for localized bronchiectasis. Lung transplantation in severe, widespread cases with respiratory failure. 6. Other Therapies: Recombinant human DNase : Not effective in improving symptoms in non-cystic fibrosis bronchiectasis. 7. Post- Bronchography Care: Physiotherapy aids in clearing contrast medium after bronchography . No food or drink for 3 hours post-procedure, apply pressure over cricothyroid cartilage to prevent subcutaneous emphysema .

6. Physiotherapy for Bronchiectasis 1. Purpose of Physiotherapy: Helps with excess bronchial secretions, breathlessness, reduced exercise tolerance, and chest wall pain (musculoskeletal). 2. Managing Excess Bronchial Secretions: Identify affected lung areas after assessment. Educate patients on their condition and treatment benefits. Effective physiotherapy reduces infections and minimizes lung damage. 3. Techniques: Active Cycle of Breathing Techniques (ACBT) in gravity-assisted positions. Self-treatment with or without self-chest clapping and compression combined with huffing. Treatment duration: Minimum 10 minutes per productive position. End-point: Two consecutive dry, non-productive huffs.

7. Treatment Frequency: Regular daily treatment is essential. Frequency varies by individual; typically once daily, increased during infections. Treatment time should align with when the chest is productive and fits the patient's lifestyle. 5. Postural Drainage: Gravity-assisted positions for lower and middle zones. Postural drainage frames can be used for comfort and convenience.

8. Physiotherapy in Special Cases & Evaluation 1 . Elderly & Frail Patients: May need assistance from caregivers for chest clapping and shaking. Regular reassessment of techniques and positions (within 3 months, then annually). 2. Acute Exacerbation of Infection: Symptoms: Increased purulent sputum, fever, dehydration, breathlessness, haemoptysis , pleuritic chest pain. Use of mechanical adjuncts: Nebulized bronchodilators, humidification, and Intermittent Positive Pressure Breathing (IPPB). Modified positioning (e.g., side-lying) to ease secretion clearance. 3. Post-Lung Resection: Adjust physiotherapy positions due to altered bronchial anatomy. Physiotherapy should continue unless frank haemoptysis occurs (temporary pause in such cases).

9. Breathlessness & Exercise: Use bronchodilators before physiotherapy for patients with bronchospasm. Include rest positions and breathing control exercises for walking and stair climbing. Exercise to improve physical fitness and mobilize secretions; consider group rehabilitation for severe cases. 5. Evaluation of Physiotherapy: Decreased sputum quantity and purulence, absence of fever, improved spirometry . Reduction in breathlessness and chest pain, increased exercise tolerance. Improvements in oxygen saturation and blood gas tensions .

10. Primary Ciliary Dyskinesia (PCD) 1 . Overview: Definition : Autosomal recessive inherited condition affecting cilia. Frequency : 1 in 15,000 to 1 in 30,000. Impact : Recurrent infections in the nose, ears, sinuses, and lungs; sperm motility issues causing infertility in males. 2. Kartagener's Syndrome (1933): Triad: Bronchiectasis, dextrocardia , situs inversus . PCD includes ciliary abnormalities in beat frequency and structure, not all cilia are immotile. 3. Clinical Features: Infants: Pneumonia may be the presenting symptom. Children: Loose cough, runny nose, recurrent respiratory infections, hearing issues (glue ear).

11. 4. Diagnosis: Nasal mucociliary clearance test. Ciliary beat frequency analysis. Electron micrographic analysis. Sweat test to rule out cystic fibrosis . Medical Management: Early diagnosis and treatment to minimize lung damage. Antibiotic therapy for upper and lower respiratory infections. Grommet insertion for middle ear fluid, though complications may occur; hearing aids may be required. Nasal douching helps keep nasal passages clear.

12. Physiotherapy: Daily physiotherapy from diagnosis, with increased sessions during infections. Gravity-assisted positions & Active Cycle of Breathing Techniques (ACBT) to clear secretions from dependent areas (lower lobes, middle lobe, lingula ). Parents should monitor infection signs (lethargy, fever) and encourage nose-blowing. Huffing games for young children (from age 2), independence by age 8-9. Sports and exercise encouraged, including swimming (even with grommets). Nasopharyngeal suction may be used in infants if necessary. Regular reassessment and support for parents. 3. Evaluation of Physiotherapy: Stable Condition : Minimal coughing on exertion. During Infection : Reduced shortness of breath, coughing, wheezing, fever; increased sputum production decreases with effective treatment.

13. Cystic Fibrosis Overview 1 . Definition & Frequency: Definition : Autosomal recessive disorder affecting cilia, leading to chronic pulmonary disease, pancreatic insufficiency, and high sweat electrolyte levels. Frequency : Most common in Caucasians; 1 in 25 are carriers, 1 in 2,500 live births. 2. Genetic Basis: Gene : Located on chromosome 7; identified in 1989. Faulty Protein : Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Impact : Abnormal ion transport causes thick, viscous mucus. 3. Pathophysiology: Normal Function : Sodium and chloride balance regulates airway surface liquid and mucus clearance. In CF : Reduced chloride secretion increases mucus viscosity and impairs mucociliary clearance. Cycle : Infection -> increased mucus -> obstruction -> bronchiectasis and fibrosis.

14. Clinical Features: Birth : Lungs appear normal. Early Signs : Inflammation and infection evident in infants and children. Progression : Leads to chronic hypoxia, pulmonary hypertension, cor pulmonale , and respiratory failure. 5. Diagnosis: Sweat Test : Sodium concentration >70 mmol /L is diagnostic. 6. Prognosis: Historical : Life expectancy was <2 years in 1938. Current : Median survival ~31 years, improving over time; potential for 50s for future generations.

15. Cystic Fibrosis – Additional Details 1. Screening & Early Detection: Family History : Screening may be conducted if there is a known family history. Neonatal Screening : Available but not universally adopted; may positively influence outcomes. Meconium Ileus : Common presenting feature in neonates (10-15% of cases), signs of intestinal obstruction shortly after birth. 2. Gastrointestinal Symptoms: Meconium Ileus : Intestinal obstruction due to sticky, thickened meconium. Malabsorption : Symptoms include voracious appetite, failure to thrive, and steatorrhoea (fatty stools). Pancreatic Insufficiency : Results in abdominal discomfort and potential diabetes mellitus in older patients. Liver Damage : May progress from focal biliary cirrhosis to portal hypertension and hepatic failure. Meconium Ileus Equivalent (MIE) : Small intestinal obstruction in adults; symptoms include abdominal distension and discomfort. 3. Reproductive & Musculoskeletal Issues: Fertility : Women may have normal fertility; males often subfertile due to developmental defects. Rheumatic Symptoms : Common forms include episodic arthritis and hypertrophic pulmonary osteoarthropathy .

16. 4. Respiratory Manifestations: Infections : Common pathogens include Pseudomonas aeruginosa and Staphylococcus aureus . Mucus Production : Excessive mucus and impaired clearance create a breeding ground for bacteria. Symptoms : Includes haemoptysis , wheeze, breathlessness, and poor appetite. Radiographic Findings : Early signs include bronchial wall thickening; progressive changes show lung overinflation and bronchiectasis. Pulmonary Function Tests : Show obstructive and restrictive patterns, with diffusion abnormalities 5 . Additional Conditions: Asthma : Common among cystic fibrosis patients. Allergic Bronchopulmonary Aspergillosis (ABPA) : Less common (11%), recognized by recurrent wheezing and deteriorating symptoms. 6. Investigations: Standard Tests : Similar to bronchiectasis. Additional Tests : Pancreatic function, fecal fat analysis, liver, spleen, gall bladder examination, and diabetes screening.

17. Medical Management of Cystic Fibrosis 1. Antibiotic Therapy: Early Treatment : More effective; goal is to eradicate or control infections. Intravenous Antibiotics : Used for acute exacerbations; duration usually 10 days, evaluated by respiratory function. Nebulized Antibiotics : Effective for Pseudomonas aeruginosa ; administered twice daily following physiotherapy. Access Devices : For patients needing frequent treatment; home use may be required. Hygiene : Essential to prevent cross-contamination, especially with Burkholderia cepacia . 2. Inhaled Medications: Bronchodilators : May benefit some patients. Steroids : For asthma or allergic bronchopulmonary aspergillosis ; ongoing research for aerosol steroids. DNase ( Dornase alpha) : Reduces mucus viscosity, improves lung function, and decreases infection exacerbations. 3. Other Treatments: Saline Inhalation : Normal or hypertonic saline before physiotherapy helps in mucus clearance. Mucolytics : Limited evidence for agents like acetylcysteine ; caution due to potential bronchospasm. Diet : High-energy intake needed; supplements of fat-soluble vitamins and pancreatic enzymes are necessary .

18. 4. Surgical & Advanced Interventions: Nasal Polyps : Corticosteroid nasal spray or polypectomy if obstruction is complete. Haemoptysis : Usually stops spontaneously; severe cases may require bronchial artery embolization. Pneumothorax : Managed with intercostal drain if persistent; surgical options are reserved for later. Transplantation : Heart-lung and lung transplants for end-stage disease; non-invasive ventilation may be used pre-transplant. 5. Gene Therapy: Research : Aims to correct the CFTR gene defect using carriers like liposomes or adenoviruses. Challenges include inflammatory responses and inefficiency of carriers. 6. Home Treatment: Benefits : Reduces hospital disruption, maintains family connections, and improves compliance. Home Visits : Specialist team visits for education, support, and home physiotherapy services. Technology : Portable infusion devices for home administration of antibiotics.

19. Physiotherapy Overview Physiotherapy is crucial in managing CF as it helps with excess bronchial secretions, reduced exercise tolerance, breathlessness, and musculoskeletal issues. Tailoring physiotherapy to each patient's needs, considering their chronic or acute state, is key for optimal outcomes. Management of Excess Bronchial Secretions Infants: Physiotherapy often starts early to prevent lung damage. Techniques include positioning (e.g., lying on the parent's lap) and using chest clapping and vibrations to mobilize secretions. Older Children and Adolescents: Treatment adjusts as the child grows. Activities like bouncing, ‘wheelbarrows,’ and ‘huffing’ games can make physiotherapy engaging. At this stage, children should gradually learn to manage some of their treatments independently. Impact of Positioning Infants: Proper positioning helps drain secretions. Caution is needed as positioning may exacerbate gastro- oesophageal reflux (GOR). Monitoring and adjusting based on individual responses is essential. Older Children: As children start walking, treatment shifts to targeting specific lung segments.

20. Exercise Role of Exercise: Regular exercise is integral to improving physical fitness, muscle strength, and lung function. Activities should be enjoyable and adapted to individual capabilities. Exercise Testing: Methods like VO2max testing or peak work capacity (PWC) assessments help tailor exercise programs. Exercise tolerance should be regularly assessed and adjusted as needed. Inhalation of Medications Bronchodilators: Should be inhaled before physiotherapy to ease secretion clearance. Monitoring for any adverse effects like increased airway obstruction is important. Mucolytics and DNase : Used to reduce mucus viscosity and improve lung function. Timing and administration should be optimized based on individual responses.

21. Management of Acute Exacerbations Signs: Include increased sputum volume, breathlessness, fever, and reduced lung function. Physiotherapy might need to be intensified with techniques like chest clapping and shaking. Supportive Measures: Oxygen therapy and potential use of Intermittent Positive Pressure Breathing (IPPB) or Non-invasive Positive Pressure Ventilation (NIPPV) may be necessary. Addressing Breathlessness and Musculoskeletal Issues Breathlessness: Techniques such as breathing control during exertion and rest positions can alleviate symptoms. Chest Wall Stiffness: Manual therapy can improve thoracic mobility and potentially enhance lung function. General Considerations Frequency and Duration of Treatment: Adjust based on secretion levels and individual needs. Adherence and integration of physiotherapy into daily routines are important for long-term success. Patient Involvement: Engaging patients and their families in treatment can improve adherence and outcomes. For adolescents, fostering independence in managing physiotherapy is beneficial.

22. Complications of Cystic Fibrosis Haemoptysis : Blood Streaking : Common and usually does not require changing the physiotherapy regimen. Frank Haemoptysis : Temporary discontinuation of physiotherapy until bleeding stabilizes is advised. Resume as soon as possible to avoid retention of sputum. Pneumothorax : Small Pneumothorax : Not contraindicated for chest physiotherapy. Monitor for any increase in breathlessness or chest pain. Large Pneumothorax : Requires intercostal drain; physiotherapy should be withheld until the drain is in place and the patient is comfortable. Allergic Bronchopulmonary Aspergillosis (ABPA) : Symptoms : Mucus plugging and wheezing. Treatment : Includes nebulized bronchodilators and possibly intermittent positive pressure breathing.

23. Implantable Venous Access Devices : Usage : Allows for home intravenous antibiotic therapy. Physiotherapy Considerations : Avoid chest clapping over the device; other techniques can be used. Pregnancy : Complications : Reduced lung function in later stages and post-birth. Physiotherapy : Modify positions as necessary and continue intensive physiotherapy postpartum. Transplantation : Pre-Transplant : Exercise program to optimize muscle strength and cardiovascular function. Post-Transplant : Extensive rehabilitation needed. Consider daily physiotherapy for airway clearance and to prevent granulation tissue formation. Terminal Care : Role of Physiotherapist : Focus on comfort, positioning, and relieving breathlessness. Physiotherapy may be limited but should continue to the extent it provides relief. Evaluation of Physiotherapy Indicators of Effective Treatment : Stable Condition : Consistent sputum weight/volume, appetite, and weight gain. Acute Exacerbation : Reduction in sputum, improved breathlessness, and lung function. Other Measures : Breathlessness , exercise capacity , chest wall pain , and quality of life . Activities of Daily Living and absenteeism from school or work.

24. Continuity of Care Assessment and Reassessment : Regular evaluations as the patient progresses through different life stages. Inclusion of regular physiotherapy in daily routines. Support : Involvement of family, understanding patient views, and regular review of techniques by a physiotherapist. Communication between local hospitals and specialist units. Multidisciplinary Team : Good communication within the team and recognition of stress among team members. Psychological support for both patient and family. Patient and Family Support : Cystic fibrosis associations often provide support and encouragement.

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