everything you need to know about cystic fibrosis and physiotherapy

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what is cystic fibrosis?

Cystic fibrosis is a genetic & progressive disorder that primarily affects the digestive system, pancreas, liver, the intestines, or the lungs. The condition affects the ability of the sweat, mucus, and digestive enzyme-producing cells to produce smooth secretions. Instead, it leads these cells to produce thick and sticky secretions that clog the passageways and tubes in the body. 

causes of cystic fibrosis

The main causes of cystic fibrosis are the inheritance of a defective mutated gene from both the parents. If children inherit only one copy of the defective gene, they will not develop cystic fibrosis genetic disease, but they will be carriers of this and can pass on the gene to their children. 

Asian and African people are the least affected by this disorder and it is mostly found in people of Northern European countries. Women are slightly more prone to this than men.

Cystic fibrosis symptoms vary depending on the age of the affected person, the severity of the condition, and the general health. Some people display no symptoms while some have serious and evident symptoms right from childhood. Since the condition affects the lungs and the digestive system primarily, the most common symptoms that occur are seen in the functionalities of these organs like: 

digestive symptoms:

  • Difficulty in gaining weight and poor body growth. 
  • Greasy, bulky, and foul-smelling stools. 
  • Intestinal blockage, especially in newborns. 
  • Long-term constipation that is known to lead to rectal prolapse. 

Respiratory symptoms:

  • Long-term cough that produces thick septum or mucus.
  • Intolerance to exercise. 
  • Wheezing.
  • Inflammation or burning sensation in the nasal area. 

Liver-related symptoms:

  • When mucus starts occurring and accumulating in the liver, it causes cirrhosis, gallstones, and scarring of the liver. 

endocrine system-related symptoms:

  • Cystic fibrosis causes blockages in insulin-producing cells leading to type-1 and type-2 diabetes leading to a condition known as cystic fibrosis-related diabetes (CFRD).

cystic fibrosis complications

Cystic fibrosis is a life-threatening condition and while new treatments have increased the life expectancy of people to around 44 years, a cure is yet to be found for this. Some of the complications that drastically impact people’s lifespan include:

  • Cancers of the liver, pancreas, stomach, oesophagus, etc. 
  • Pneumothorax or collapse of the lungs. 
  • Bronchiectasis, which can cause either obstruction in the airways or their enlargement.
  • Diabetes due to damage to the pancreas. 
  • Heart failure due to damage to the lungs. 
  • Kidney problems like kidney stones. 
  • Liver failure or complications like cirrhosis.
  • Complications related to muscles and bones like arthritis, osteoporosis, muscular pains, etc. 
  • Depression and anxiety. 
  • Infertility problems.
  • Severe nutritional deficiencies due to pancreatitis.
  • Loss of bladder control.

how is cystic fibrosis diagnosed?

Cystic fibrosis diagnosis is done through several tests that depend on your signs and symptoms. Some of the most common tests include:

  • Prenatal diagnostics: To diagnose cystic fibrosis in an unborn child, a sample of the amniotic fluid or a tissue of the placenta is extracted. These are then checked for genetic mutations. Foetuses that get a positive diagnosis will be again tested after birth to reconfirm the diagnosis. 
  • Newborn screenings: In this type of cystic fibrosis test, a blood sample is taken from the newborn to check for immunoreactive trypsinogen chemical that is released by the pancreas and is a common indicator of cystic fibrosis.
  • Diagnosis in older children and adults: In higher age groups, besides genetic screening, a sweat test is conducted to check for high levels of sodium chloride. In case this test turns out to be negative, but either your parents are cystic fibrosis carriers or you have been showing symptoms, other tests may be conducted. These include blood tests to check for defective genetic mutations, chest X-Rays, stool evaluations, MRIs, CT Scans, etc. 

living with cystic fibrosis and how can physiotherapy help?

While a cure for cystic fibrosis is yet to be found, advances in treatments and medicines are helping people in improving their quality of life. This has also helped in increasing the life expectancy to mid-forties from around 10 years in the 1960s. Respiratory dysfunctions are majorly responsible for much of the morbidity and mortality that occurs due to cystic fibrosis. 

The medical management of cystic fibrosis includes: 

  • Administration of antibiotics for controlling the infections of the respiratory system.
  • DNA enzyme replacement medications and therapies that help in thinning of the mucus and its expectoration. 
  • Inhaled medications to help open the airways. 
  • Vitamin supplements to help nutritional deficiencies and disorders. 
  • Pain killers to relive your discomfort and pain.

how can physiotherapy help?

Physiotherapy has played a long-term and very effective role especially in the respiratory management of this condition and has helped people in adapting to the patterns and complications of the disease that occur. The role of the physiotherapist however is not limited to this. It also includes exercises that improve one’s mobility, posture, ability to inhale and non-invasive respiratory support in the later stages of the disease. Physiotherapy can be easily learned and administered by the parents of children suffering from cystic fibrosis. 

Some of the ways in which physiotherapy lets you live a better life include:

  • Airway clearance: Your physiotherapist may use several techniques to stop thick mucus from building up in the airways of the lungs like:
  1. Active Cycle of Breathing Technique: This includes teaching you cycles of deep breathing, coughing, and relaxed breathing to enable movement of mucus. 
  2. Autogenic drainage: This involves moving the mucus from the smaller to the larger airways to allow you to breathe comfortably.
  3. Positive Expiratory Pressure: Helping you breathe through a mask to build pressure on the mucus to enable its movement. 
  4. High-Frequency Chest Wall Oscillation: This involves an electric air pulse generator that is connected to an inflatable jacket to help the chest vibrate in turn helping in the loosening of the mucus. 
  5. Inhalation therapies: Many people with cystic fibrosis are administered inhaled medications to control their respiratory symptoms. It is important to coincide these medications with your airway clearance exercises for their better absorption impact. 
  6. Shaking and vibrations: This technique involves vigorous massages and rhythmical squeezes to the chest while exhaling to help in the loosening of the mucus and its secretion. 
  7. Percussion: In this technique, the chest is clapped lightly with a towel to help loosen the mucus. 
  • Posture: Poor posture as one gets older leads to back pain and an increased impact on the already compromised lungs. Your physiotherapist will help you with techniques on maintaining a good posture while you work, walk, sit, and sleep. 
  • Urinary incontinence: This is a common symptom of cystic fibrosis occurring in children and adults. The physiotherapist will help you with pelvic floor exercises that will help you control your urinary or fecal incontinence. 

The long-term benefits that physiotherapy has brought in the management of this condition enabling patients to live a more active and longer life are well-established. Physiotherapists also serve a very important role of mentors and guides as they effectively induce positivity in the patients of this disorder helping them to have a positive outlook towards life that in turn makes the treatments more effective.

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