Physiotherapy has long been considered a cornerstone of condition management for people with cystic fibrosis (CF). The presentation of CF has changed over time with an increased life expectancy and increased expectations of people with CF to have a complete lifestyle.

1. Cystic Fibrosis
Physio. Shilpasree Saha
BPT, MPT (Cardio-Thoracic Disorders)

2. Introduction
 CYSTIC FIBROSIS (CF) Is The Most Common Life-
limiting Genetic Disease.
 It Is A Multisystem Disorder, Although The Main
Cause Of Morbidity And Mortality Is Respiratory
Failure.

3.  Cystic Fibrosis (CF) Is The Basic Defect In The Gene
Located On The Long Arm Of Chromosome 7, Which
Results In The Deficiency Of Cystic Fibrosis
Transmembrane Conductance Regulatory Protein
(CFTCR).

4. Pathophysiology
 CFTCR Is A Chloride Channel Activator.
 This Genetic Defect causes malfunction of the chloride
channel in our cells.
 Results In A Reduction In The Movement Of Ions In
And Out Of Cell And A Reduction In The Amount Of
Water In The Secretions.
 In normal airways (A), the Airway Surface Liquid
(ASL) is hydrated by a combination of Cl − secretion
and Na + absorption and in CF airways (B), reduced Cl
− secretion and Na + hyperabsorption causes ASL
dehydration.
 It produce thick and sticky mucus, rather than natural
thin and slippery mucus.

6. Etiology
 In Cystic Fibrosis, The Airway Epithelium Shows A
Combination Of Defective Chloride Secretion And
Increased Sodium Absorption That Leads To Changes
In The Composition Of The Airway Surface Liquid, And
Predisposes The Lung To Chronic Pulmonary
Infections And Bronchiectasis.

7. Clinical
Manifestations
 Respiratory Tract:
 Symptoms: Cough, Wheezing, Shortness of breath,
Exercise intolerance, Rhinorhea, Nasal obstruction.
 Signs: Cyanosis, Digital clubbing, Increased AP
diameter of chest, Coarse crackles, Expiratory wheeze,
Acute sinusitis, Nasal polyps

8.  Reproductive System:
 A. Males: Sterility: Absent Or Defective Vas Deferens,
Epididymis And Seminal Vesicles (In About 99% Of
Males).
 B. Females: Decreased Fertility
 Skeletal system:
 Retardation Of Bone Age, Demineralisation,
Hypertrophic Osteoarthropathy.
 Others: Salt Depletion, Heat Stroke, Salivary Gland
Hypertrophy, Retinal Haemorrhage, Hypertrophy Of
Apocrine Glands.

10. Diagnostic
Criteriafor
CysticFibrosis
 Presence of typical clinical features
OR
 Positive Family History of CF
PLUS
 Lab evidence for CFTR dysfunction
 Elevated sweat Chloride test
OR
 An abnormal nasal potential difference measurement

11.  Although CF is congenital and manifests in
childhood, this condition has now become an
adult disorder.
 Adult patients with CF often have an upper
lobe infiltrate, with evidence of atelectasis
and bronchiectasis, and chronic
staphlococcal infections.

13.  The beat frequency of the cilia is often slowed to approximately 3 mm/min, compared with 20
mm/min in age matched healthy control subjects.
 Patients can be categorized into three general groups-
1) Those with no significant pulmonary signs,
2) Those with pulmonary signs and occasional cough and sputum,
3) Those with pulmonary signs and constant cough and sputum.
Those patients in the last group tend to have significantly impaired pulmonary function test
results, reduced diffusing capacity, and increased hemoptysis, particularly in the presence of an
abnormal chest x - ray and hyperinflation. Airway hyper reactivity appears to be variable.

14.  Regional ventilation is nonuniform contributing to ventilation and perfusion mismatch and
hypoxemia.
 Peripheral airways are often abnormal either anatomically or functionally because of mucous
plugging.
 The lungs of patients with CF may be excessively stiff at maximal lung capacity, with a loss of
elastic recoil at low lung volumes.
 The chronic pulmonary limitation in CF is related to increased secretion of abnormally viscous
mucus, impaired mucociliary transport resulting in airway obstruction, bronchiectasis,
hyperinflation, infection, and impaired regional ventilatory function, leading to impaired
ventilation and perfusion matching and gas exchange.
 Radiologically, changes are most pronounced in the upper lobes, especially the right upper lobe.

15. Differential
Diagnosis
Conditions Similarity Differences
Primary Ciliary
Dyskinesia
May Lead To
Bronchiectasis,
Sinusitis, And
Infertility.
Sweat Chloride
Value Is Normal
Shwachman
Syndrome
Pancreatic
Insufficiency, Mal
absorption And
Lung Disease
May Simulate CF
Sweat Chloride
Value Is Normal
Young Syndrome Bronchiectasis,
Sinusitis And
Azoospermia. In
Men Lacks GI
Symptoms
Sweat Chloride
Value Is Normal

16. Sweattest
 Both Chloride And Sodium Sweat Concentrations Are >
60 Mmol/L, Chloride More Than Sodium (Sweat Is
Collected Using Pilocarpine Directed To The Sweat
Glands By Iontophoresis).

17. Medical
Management
 Antibiotics – Oral Or Iv Depending On The Organism.
It Is Necessary To Clear Lung Of Secretions For Which
Chest Percussion Therapy And Inhalation Of
Hypertonic Saline Is Advocated.
 Recombinant Human Dnase (RHDNASE): Once-daily
nebulised recombinant human deoxyribonuclease is the
most widely used mucoactive therapy in patients with
CF. It has been shown to reduce the viscoelasticity of
sputum from patients with CF and enhance the
clearance of secretions.

18. Medical
Management
 Anti-inflammatory Agents – To Control Chronic
Inflammation In The Lungs – Corticosteroids And
NSAIDS.
 Other Symptomatic Management As Per The Organs
Involved.
 Transplantation – Sequential Single-lung Or Heart-
lung Transplantation Is An Option In End- Stage
Cystic Fibrosis.

19. Physiotherapy
Treatment
Airway clearance
Good airway clearance remains a key aim of
physiotherapy for people with CF and is considered to be
integral to their overall management.
The most common forms of airway clearance used are:
conventional physiotherapy, active cycle of breathing
techniques (ACBT), autogenic drainage (AD), positive
expiratory pressure (PEP) devices, oscillating PEP
devices, noninvasive ventilation (NIV), and exercise.

20. Physiotherapy
Treatment
Postural correction
 Postural disorders in CF are secondary to pulmonary
disease and the complex relationship between posture
and respiration.
 Thoracic kyphosis, vertebral wedging, decreased
thoracic mobility, and muscle weakness are more
common in those with CF and are related to worsening
lung function and clinical symptoms.
 The major consequence of postural disorders is back
pain, and the severity of this pain is associated with
pulmonary deterioration, sputum production, and
breathlessness.

21. Physiotherapy
Treatment
 Assessment and an appropriate program of chest
mobility and strengthening exercises to improve
posture and coordination significantly improve the
posture, chest wall mobility and body strength, reduce
the need for intravenous antibiotics and slow the
reduction of forced expiratory volume in one second.

22. Physiotherapy
Treatment
Pelvic floor muscle strengthening
 The prevalence of urinary incontinence (UI) in women
with CF is higher than the normal population and
higher than in other respiratory patient groups.
 The major cause of UI is coughing and symptoms
impact mainly on the ability to perform airway
clearance and lung function testing.
 Study examined the effect of a three-month
individualized pelvic floor muscle exercise program on
the strength and endurance of the pelvic muscles65
and found that this program reduced symptoms and
improved muscle endurance.

23.  Another study reported improved electromyography
activity causes decrease in symptoms which
maintained over three months after intervention,
following a comprehensive program of pelvic floor
muscle exercises and electrical stimulation.

24. Physiotherapy:
thefuture
 Numerous physiotherapy techniques have been
developed and there is a realization that one of the
greatest challenges is for people with CF to be able to
adhere to treatment regimens that may be complicated
and/or time-consuming.
 It is likely therefore that future developments and
research of physiotherapy techniques will focus on
patient satisfaction, quality of life, and adherence.