What is Cystic Fibrosis, What Are Its Symptoms?
Cystic fibrosis (CF) is an heritary disease of the mucous and sweat glands (exocrine glands) that mostly affects the lungs, liver, pancreas, and intestines. It causes damage to lung tissue, inflammation and susceptibility to bacterial infections. In Cystic Fibrosis, there is a mutation in a gene called the Transmembrane Conductivity Regulator (CFTR), which causes the production of thick, sticky mucus that clogs the airways in the lungs and causes frequent lung infection.
Cystic fibrosis is the most common life-limiting genetic disease in the Caucasian population, and is also found in other ethnic groups. Although the main cause of morbidity and mortality is respiratory failure, it is a multisystem disease. The average life expectancy has increased significantly over the past two decades and is currently in the mid-thirties. One factor in the improvement of life expectancy is the increase in the scope and intensity of treatments, including nutritional support, physiotherapy, antibiotics and other drugs.
Cystic Fibrosis may be asymptomatic; this occurs when a person inherits only one defective gene from either of their parents and is a carrier. The pattern of development of CF and the severity of its symptoms vary between individuals. The disease is sometimes evident soon after birth, but in some cases of CF it goes undetected for months (in infancy) or years (in childhood).
Signs and symptoms differ from person to person and may include:
– Persistent cough with sputum
– Wheezing and shortness of breath
– Lung infections
– Poor growth and weight loss
– Difficulty with bowel movements in the first 24/48 hours of life.
– Affected organs
Cystic Fibrosis and Physiotherapy
Physiotherapy has a longstanding role in the management of CF; Traditional physiotherapy consisting of postural drainage and manual techniques has been described in articles from the 1970s, but this aspect of management has changed significantly over time with the presentation of people with CF.
In order to balance the treatment demands and lifestyle, management methods have been developed for patients who want to complete the treatment independently at home and / or clinically where possible, in order to avoid long periods in a hospital setting and dependence on others. CF’ affects the personal life of people and can have financial implications. Therefore, the modern management strategies used by physiotherapists focus on maintaining a normal lifestyle, which is reflected in independence and the use of the described techniques.
There are difficulties in conducting high-quality research evaluating physiotherapeutic techniques in people with CF. CF itself has a variable course of the disease with periods of stability, periods of exacerbation and a varying rate of decline. Those with CF are a highly studied population, and therefore it may be difficult to involve them in physiotherapy studies.
Good airway clearance remains the primary goal of physiotherapy for people with CF and is recognized as an integral part of their overall management. In the United Kingdom (UK), the most common forms of airway clearance used are conventional physiotherapy, active breathing cycles (ACBT), autogenic drainage (AD), positive expiratory pressure (PEP) devices, oscillating PEP devices, noninvasive ventilation (NIV) and exercise. However, physical therapists and people with CF will often choose to try new forms of airway clearance that are available. Recently, this has led to some use of high-frequency chest wall oscillation (HFCWO), intrapulmonary percussive ventilation (IPV), cough support, respiratory muscle training, and other techniques.
The question of whether there is evidence that airway patency should be recommended has often been raised. There are no long-term trials of physiotherapy for airway clearance. However, there is evidence from two reviews of short-term physiotherapy trials versus no physiotherapy trials. These reviews show that physiotherapy increases sputum transport compared to no physiotherapy.
Traditional physiotherapy huffing postural drainage is a combination of ASTD components, directed cough and manual techniques. (7) The techniques applied may include percussion, chest shaking, and vibrations.
Traditional chest physiotherapy (CCPT) is comparable in effectiveness to other airway cleansing techniques and remains a combination of techniques that some people find useful and prefer. However, space and/or equipment are required to facilitate postural drainage, and it can be difficult to implement manual techniques independently.
Active breathing techniques cycle
ACBT is a cycle of techniques consisting of the following three components:
1) Respiratory control, which is a tidal volume breathing that promotes the use of the lower chest with relaxation of the upper chest and shoulders,
Respiratory control is used to relax the airways and relieve the symptoms of wheezing and tightness that normally occur after coughing or shortness of breath. Encouraging the patient to close their eyes when performing respiratory control can also help promote relaxation. It is very important to use breathing control between the more active exercises of ACBT as it allows the airways to relax.
Instructions to the patient:
– If possible, inhale and exhale gently through your nose. If you can’t, breathe through your mouth instead (the patient breathes at his own pace)
– If you exhale through your mouth, it is best to use breath control with ‘contracted breath through lips’.
– With each breath, try to release the tension from your body and relax your shoulders.
– Try to slow down the breaths gradually.
– Try closing your eyes to help you focus on your breathing and relax.
– Breath control should continue until the person feels ready to move on to other stages in the cycle.
2) Thoracic enlargement, especially involving deep breathing – hold when inhale, followed by quiet, relaxed expiration,
Instructions to the patient:
– Try to relax your chest and shoulders.
– Take a long, slow and deep breath through your nose if possible.
– At the end of the inhale, hold the air in your lungs for 2-3 seconds before exhaling (this is known as inspiratory hold)
– Exhale gently and comfortably, as if sighing. Do not force air out.
– Repeat 3-5 times. If the patient is feeling dizzy, it is important to return to the breath control phase of the cycle.
– To facilitate a maximal inspiration, proprioceptive feedback with the therapist or patient may be helpful to place their hands on the thorax. This has been associated with increased chest wall motion and improved ventilation.
3) Forced expiratory technique, consisting of one or two breaths; forced exhalation through an open mouth.
ASTD increases the rate of sputum excretion, and the amount of sputum is cleared. ACBT has the advantage of being a relatively simple technique that does not require equipment or assistance when used alone. It can also be combined with other physiotherapy techniques, such as postural drainage and percussion.
AD is a breathing technique that aims to maximize the flow of air in the airways by using controlled breathing at different lung volumes to achieve the highest possible airflow in different bronchi.
1) Movement of mucus from small airways,
Start with the control of breathing.
You can relax.
Take a deep breath and blow all the air out of your lungs until you feel that your lungs are stuffy.
When the lungs empty, take a small breath through your nose.
Hold the breath for three seconds, then exhale all the air out.
Repeat this twice.
2) Transport of mucus from small airways to medium-sized airways.
Take a normal sized breath.
Hold the breath for three seconds.
Exhale all the air in your lungs with a gentle force. This may make you feel like you want to cough, but you can hold the cough until the end.
Repeat three times.
3) Transport of mucus from medium-sized airways to large airways for coughing.
Take a deep breath.
Wait three seconds.
Exhale all the air from your lungs with gentle force.
Repeat three times.
Do not cough until the third breath.
This breathing technique is performed in tidal volume in different lung volumes, thus maximizing the expiratory flow. This is usually defined as a three-phase technique as follows:
1) this stage is performed at a low lung volume to help relax the secretions located on the periphery
2) breathing around the middle lung volume, secretions from the upper respiratory tract
3) breathing with a high lung volume facilitates the clearance of secretions from the upper respiratory tract.
AD is equivalent to conventional physiotherapy in efficacy in terms of sputum clearance and respiratory function. It has been found to be a faster method of clearing phlegm compared to ACBT; however, no differences were identified in cleared sputum weight or lung function. Since AD can be performed seated, it uses no equipment and requires very little space, and can be combined with other physiotherapy techniques.
PEP devices provide resistance on expiration, thus improving sputum clearance by theoretically increasing the gas pressure behind the sputum through collateral ventilation. PEP can also stabilize the airways by separating them during expiration, thus facilitating sputum clearance. PEP devices are generally used in the form of a sealed mask that is attached to the face or a mouthpiece that is closed between the lips. Both types of devices contain a one-way inspiratory valve, and an expiratory resistance is provided by a resistor or bore of various diameters that can be changed to adapt the resistance to the patient. A manometer can be added to the PEP device to measure the expiratory pressure with a given resistance until the appropriate pressure is reached mid-expiration. During use, the person with CF inhales to the middle lung volume and exhales actively; A series of breaths will be completed followed by relaxed breathing and forced expiratory technique as needed. This cycle is repeated and with PEP the number of cycles and the exact breathing routine are personalized to the person using the relaxed breathing and forced expiratory technique.
PEP is a relatively simple technique that uses equipment small enough to be portable. It can be combined with other airway cleaning techniques and used independently. It has been found that PEP is more acceptable for patients than other airway cleansing techniques when used in studies longer than one month.
NIV refers to the respiratory support provided through the upper airway, which is provided through a mask, mouthpiece, or the like. There are many types of ventilators that provide single-level, two-level or volume support. There is also a wide range of interfaces available, such as mouthpiece, nose pad, oral, nasal, full or all face masks.
Depending on the situation, the physiotherapist will use a mask or, more commonly, a mouthpiece when using NIV for airway patency. This allows faster and easier removal of NIV when coughing and clearing sputum. The pressures used for airway patency may be different from those used for night or similar use, and the physiotherapist ensures that these pressures are sufficient to achieve optimal chest expansion during inspiration for the person using it. Version of ACBT is usually used with NIV with a version that facilitates thoracic expansion and reduces the work of breathing during comfortable breathing. Some people may also use NIV to achieve a deep inspiration before the difficult expiratory technique and to recover after coughing.
Intermittent positive pressure breathing (IPPB) provides intermittent pressure ventilation to increase lung expansion, deliver aerosol medication, or assist ventilation and is a form of NIV. IPPB is used in a similar way to that described for NIV above and has been greatly modified by the use of NIV. NIV has proven to be a more adaptable technique used for airway clearance as well as nocturnal, acute and chronic ventilation. The IPPB does not have this adaptability, but is still considered to be used to deliver aerosol drugs with atelectasis, impaired secretion clearance, or where there is respiratory muscle weakness or severe hyperinflation. There is little evidence of the specific use of IPPB in people with CF.
NIV can be a difficult treatment for some people with CF to accept. It requires more equipment at home, can be uncomfortable at first and can interfere with one’s lifestyle, especially when needed for nighttime use. It is critical that NIV use and setup be tailored to the individual, with consideration for the timing of entry, timing of use, and type of ventilator and interface. These issues can greatly affect the acceptance and success of NIV. Continuous evaluation is needed to ensure that NIV use is successful and that the person using it can balance use with the demands of other treatments, such as night feedings.
Exercise or physical training is participation in a program of regular and intense physical activity designed to improve physical function, cardiovascular performance or muscle strength. Exercise programs may include cardiovascular exercise, strengthening, flexibility, posture, speed, and skill work.
Short-term studies show that exercise alone is lower in airway clearance than conventional physiotherapy; however, the addition of exercise to conventional physiotherapy provides higher clearance compared to conventional physiotherapy alone and has been favored by patients.
Exercise may be a popular choice among people with CF as an airway clearance technique. It is considered a “normal” activity by many and participation can be part of a group activity with friends, unlike other physiotherapy interventions. Exercise can be a low-cost intervention and relatively easy to adapt to the clinical situation.
In addition to its use as an airway clearance intervention, exercise to improve cardiovascular fitness can alleviate dyspnea and depression, and may improve exercise tolerance, diabetes management, body image, lung function, and delay the onset of osteoporosis. The positive effects of aerobic and anaerobic training programs can increase exercise capacity, strength and lung function. Physical training can also help manage CF-related diabetes, delay the onset of osteoporosis, and lead to an improved body image and reduced anxiety. However, past studies are short-term and inconsistent in their findings. Therefore, it is unclear whether aerobic, anaerobic, or a combination of both is optimal, and there is no evidence to guide the prescribing of training programs in patients with CF complications.
High frequency chest wall oscillation
HFCWO is known by a number of other terms, including high frequency chest wall compression (HFCWC) and vest. HFCWO is a technique that uses a pneumatic vest that fits over the chest and inflates with overlapping air pressure swings that allow air to enter and exit the lungs quickly.
The costs of HFCWO are significantly higher than other techniques such as ACBT, AD, PEP and oscillating PEP. This high cost can be difficult to justify, as the technique is not consistently proven to be superior. It’s also a larger device that can be noisier and less portable than its alternatives. As with other airway clearance techniques, there is a need to individually evaluate whether HFCWO can be a useful technique.
Postural disorders in CF are secondary to pulmonary disease and the complex relationship between posture and breathing. Thoracic kyphosis, vertebral wedge, decreased thoracic mobility, and muscle weakness are more common in people with CF and are related to worsening lung function and clinical symptoms. These changes are likely due to increased work of breathing and the assumed bent posture during excessive coughing.
The main consequence of postural disorders is back pain, the severity of which is associated with pulmonary deterioration, sputum production, and shortness of breath. Postural disorders may respond to treatment and therefore be reversible. Assessment and an appropriate chest mobility program and strengthening exercises to improve posture and coordination significantly improve posture, chest wall mobility and body strength, reduce the need for intravenous antibiotics, and slow the reduction of forced expiratory volume in one second.
Despite these benefits, postural assessment and treatment are often neglected by people with CF and their clinicians. This is because its benefit is relatively new, and so it may not have yet become an integrated aspect of management within a high-load regimen, even without the addition of postural therapy.
The prevalence of urinary incontinence (UI) in women with CF is higher than in the normal population and higher than in other respiratory patient groups. The main cause of UI is cough, and symptoms mainly affect the ability to clear the airway and perform lung function testing. Symptoms are underreported and subjects are unlikely to seek help with the problem. There does not appear to be any problems with the timing of pelvic floor muscle activity or with maximal muscle activity during anger and coughing. However, muscular endurance decreases during prolonged coughing, which may be the reason for the increased prevalence in people with CF.
Despite strong evidence of a high prevalence of UI in people with CF, there are few reports of assessment and treatment of the problem. However, there is evidence to suggest that the problem is reversible with treatment. One study examined the effect of a three-month personalized pelvic floor muscle exercise program on strength and endurance of the pelvic muscles, and found that this program reduced symptoms and increased muscular resistance. Another study reported improvement in electromyography activity at one and twenty seconds and a reduction in symptoms that persisted for three months after intervention, following a comprehensive program of pelvic floor muscle exercises and electrical stimulation.