dpt semester 10

1. Disorders of Respiratory System
(Cystic Fibrosis)
Dr. Tehreem Anis
DIRS, DU

2. Content
• Cystic Fibrosis
• Pathophysiology
• Multisystem involvement
• Epidemiology
• The good and the bad news
• Diagnosis
• Treatment

3. Cystic Fibrosis
Cystic Fibrosis is an inherited, autosomal recessive, multi-system health
condition characterized by an abnormality in exocrine gland function.

4. Pathophysiology
• There is an altered gene located on the long arm
of chromosome 7
• A deletion of this protein leads to altered Cystic
fibrosis transmembrane conductance regulator
(CFTR)
• The defect effects chloride ion transmission
across epithelial cells
• Results in excessive sodium reabsorption and ↑
viscosity of the exocrine secretions
• Leads to:
• Dehydration of surface fluids
• Abnormally salty sweat
• Thick mucus that clogs tubes, tubules, ducts

5. Multisystem Involvement
• Gastrointestinal
• Vitamin deficiency
• Malabsorption
• Genitourinary
• Blockages
• Infertility
• Integumentary
• Dry skin / dehydration
• Musculoskeletal
• Muscle atrophy
• Pulmonary
• Cardiac
• Endocrine
• DM

6. Epidemiology
• Common in populations of European origin
• White Americans 1/1600 to 1/2000 live births
• Estimated incidence range from 1/500 to 1/90,000
• Equal gender distribution
• Approximately 30,000 children and adults in the States have cystic
fibrosis
• In US ~5% of the population carries a single CF gene

7. Most common lethal genetic disease of the
Caucasian population !
• Both parents must
carry the genetic
defect

8. The good news...
• Median survival rate is
going up
• 1991 was ~20 years
• 1998 was ~ 32.3 years
• 2003 was ~32 years
• 2008 was ~ 37.4 years
• Currently >50% of
children with CF survive
to adulthood
The bad news...
• Expected decline in
pulmonary function in
patients with CF is
between 2-3% per year
• 90% of those with CF
die of respiratory failure

9. Diagnosis of CF
• Commonly dx at birth, but may not be suspected until later in life
• Most common diagnostic test for CF is the Sweat Test
• Positive Sweat Test =
• Chloride concentration >70mmol/liter
• Sodium concentration >60 mmol/liter
• (Normal values are 50 and 40 mmol/liter respectively)
• Meconium ileus at birth has become hallmark sign for dx
• Meconium ilieus
• Constipation
• Abdominal distension
• Colicky, pain
• Emesis
• Rapid dehydration
• Fe+ deficient Anemia

10. Other Signs used for Diagnosis
• Familial hx
• Exocrine pancreatic insufficiency
• Chronic pulmonary changes
• Problems with reproductive functions
• Males are azoospermic
• Females have ↓ fertilization

11. Characteristics of CF
• Short stature with ↓body weight
• Voracious appetites due to ↑ resting
metabolic rate with intestinal
malabsorption
• Osteopenia / premature osteoporosis
• Barrel chest with flattened diaphragm
leads to a sense of fullness and ↓food
intake

12. Pathological Process
CF may affect gas exchange in several ways:
• Increase distance for gas exchange
• Clogged alveoli
• Chronically infected areas
• Decrease size of gas exchange area
• Collapsed segments
• Shunted blood
• Alter the partial pressure gradient
• poor ventilation
• poor distribution or air
• elevation of arterial partial pressure
• Changes begin in the bronchioles
• Decrease size of gas exchange area
• Decreased surfactant secretion which decreases surface tension and increase alveolar collapse
• Mucus plugs can also temporarily cause distal alveolar collapse

13. • As CF progresses larger, more central airways become involved
• Usually infected with Staphylococcus aureus or Pseudomonas
aeruginosa
• Mucus secreting glands become hypertrophied
• Increased secretions reduce lumen of airways
• Normal mucociliary mechanism is impaired causing duct obstruction
• Structure of airways are altered and bronchiectatic reconstruction
occurs

14. Secondary impairments
• Pulmonary hypertension
• Right sided heart failure (cor pulmonale)
• Pneumothorax
• Hemoptysis

15. Medical Management
• Treatment is driven at reducing sequelae of primary impairments to slow progression of
health condition and increase quality of life
• Pharmacotherapy
• Antibiotics
• Bronchodilators
• Mucolytics
• Anti-inflammatory medications
• Gene therapy
• Surgical procedures
• Reduce dead space
• Pleural sclerosis
• Bronchial artery embolization
• Lung transplant
• 120 – 150 people/year
• >90% alive after 1 yr, 50% alive after 5 yrs

16. PT Interventions
Preferred practice patterns:
• 4A: Primary prevention/risk reduction for skeletal demineralization
• 6C: impaired ventilation, respiratory/Gas exchange, and aerobic
capacity/endurance associated with airway clearance dysfunction
• 6E: impaired ventilation, respiratory/Gas exchange associated with
ventilator pump dysfunction or failure
• 6F: impaired ventilation, respiratory/Gas exchange associated with
respiratory failure

17. PT Interventions
• Both aerobic and strength training increase pulmonary function,
strength, and aerobic capacity, positively impact control of diabetes,
body image, and levels of anxiety.
• Exercise:
• Increases sputum clearance
• Delays onset of dyspnea
• Delays decline in pulmonary function
• Prevents decrease in bone density
• Enhances cellular immune response
• Increases feelings of well-being

18. PT Interventions for Airway Clearance
Techniques (ACT)
Traditional PT Interventions
• Chest Physiotherapy (CPT)
• Postural Drainage (PD)
• Self-administered Techniques
Self-administered Techniques
• Active Cycles of Breathing (ACBT)
• Autogenic Drainage (AD)

19. Self Administered Techniques
Active Cycle of Breathing
• Easy to learn
• Can be done anywhere
• Can be used with children
• Can be done in postural drainage
positions Avoid cough until Huff
during phase 3
Autogenic Drainage
• Requires concentration
• Person must be able to recognize
location of secretions
• Less suitable for children
• Can be done anywhere
• Cough suppression until mucus is
in larger airways

20. Active Cycles of Breathing
• Phase I – Breathing control
• Diaphragmatic breathing / lower ribcage expansion (5-10 secs)
• Phase II – Thoracic expansion
• ↑ inspiration to max. volume, expiration is passive, relaxed
• 3 sec inspiratory holds / sniff for collateral ventilation to reinflate atelectatic
alveoli
• Phase III – Forced expiration
• Huffing alternated with breathing control
• Medium volume huffs→ breath control → high volume huff
• Continue until huffs are non-productive for 2 consecutive cycles

21. Autogenic Drainage
• Phase I – Unsticking
• Deep inhale through nose exhales through mouth @ low lung volumes then
breathes normally here until pt aware of secretions in small airways
• Phase II – Collection
• ↑ depth of inspiration to midlung volume with ↑ expiratory volume
• Secretions passed to mid-size, central airways
• Phase III –Evacuation
• ↑ inspiration to high lung volumes →max inspiratory volume
• High volume huff to expectorate mucus

22. Old (PD) vs. New (AD) clearance techniques
• Both the AD and PD groups demonstrated improved pulmonary
function with no significant difference between the two groups.
• Patients with CF exhibited a marked preference for the AD technique.
• Both AD and PD are effective methods of performing ACT for patients
with CF
• Benefits of either technique are enhanced by measures which
encourage adherence

23. Active Cycle Of Breathing Technique (ACBT)
• Four studies, with four different comparators, found that ACBT was
comparable to other therapies in outcomes such as patient
preference, lung function, sputum weight, oxygen saturation, and
number of pulmonary exacerbations

24. Toys!
• PEP (Positive expiratory pressure)
• Oscillatory PEP
• High frequency chest wall oscillation (Vest)
• Intrapulmonary pressure ventilation (cough-a-lator)

25. Efficacy Of Airway Clearance Techniques
Systematic Review 1960-2004 to determine efficacy of different non-
pharmacologic interventions for airway clearance. Postural drainage,
chest wall percussion/vibration, and huffing, forced expiration
techniques increased airway clearance as assessed by airway
characteristics (volume, weight, viscosity) but long term effects were
not clear. Devices and non-assisted techniques appeared to be just as
effective as CPT in increasing sputum production

26. Conclusions
• No clear advantage of conventional CPT over other airway clearance
techniques in terms of respiratory function
• There was a trend for participants to prefer self-administered airway
clearance techniques

27. References
• Deturk W, Cahalin L.Cardiovascular and Pulmonary Physical Therapy.An Evidence-based
Approach. United States of America:McGraw-Hill Companies Inc;2004:465-467
• Orenstein DM, Higgins LW. Update on the role of exercise in cystic fibrosis.
• Curr Opin Pulm Med 11:519-523.
• Bell SC, Morrie NR. Editorial: Exercise testing in patients with cystic fibrosis:
• Why and which? Journal of Cystic Fibrosis 9 (2010);299-301
• Larry’s book
• Main E, Prasad A, van der Schans CP. Conventional chest physiotherapy compared to
other airway clearance techniques for cystic fibrosis (Review).
• The Cochrrane Library 2009. Issue 2.
• McCool FD, Rosen MJ. Nonpharmacological Airway Clearance Therapies: ACCP Evidence-
Based Clinical Practice Guidelines. CHEST 2006;129:250S–259.