Cystic Fibrosis

Cystic Fibrosis (CF) is a genetic condition that causes damage to the lungs, digestive system and other organs of the body. It primarily affects cells that produce mucus, sweat and digestive juices. These secretions are generally thin and protect the body’s tubes and ducts to promote smooth pathways. In people with CF, these secretions become thick and sticky clogging up these pathways particularly the lung and pancreas.

What causes Cystic Fibrosis?

CF is caused by a mutation in the CFTR gene. This gene assists in controlling salt and water in the body’s cells affecting the production of mucus, sweat and digestive juices.

In Australia, approximately 1 in 25 people carry this gene, most are not even aware they carry it. When carrying the gene, people do not have symptoms. Both parents must carry the gene for it to be passed to their child.

In this case there is:

1 in 4 chance that your baby will have CF
1 in 4 chance that your baby won’t have CF
2 in 4 chance that your baby will carry the gene for CF

In Australia, 1 in 2,500 babies are born with CF.

Diagnosis

Thanks to modern science, CF is now routinely screened for in new born babies through a heel prick test. This test is approximately 90% accurate. If you baby’s test is positive, a sweat test is usually performed around 6 weeks of age.

If you know a family member who has a history of CF, blood tests are readily available to be tested to see if you also carry the gene.

Signs and Symptoms

Signs and symptoms can reveal in childhood, however some people may not start experiencing symptoms until teenage years or adulthood. People who are undiagnosed until adulthood often have milder and ore atypical symptoms of the condition. Signs and symptoms can vary depending on which organs are affected and the severity of the condition. Symptoms can vary within the individual as well from 1 time to the next.

Symptoms of CS are related to the organs that the condition affects.

Respiratory

The lungs are the most common organ affected by CF. Thick, sticky mucus clogs up the respiratory tubes such as bronchi, bronchiole and the small sacks (alveoli) that are essential for O2 and CO2 to be exchanged.

Symptoms can include:

Cough that brings up thick mucus
Wheezing
Limited ability to exercise
Repeated lung and sinus infections
Irritated and inflamed nasal passages, stuffy nose

Digestive

This thick mucus can block the tubes that transport digestive enzymes from the pancreas to the small intestine. This inhibits the body’s ability to absorb nutrients in food.

Offensive smelling greasy stools
Poor weight gain and growth
Ongoing severe constipation, bowel blockages

Treatment

Comprehensive input and treatment is required in the management of CF, especially during periods of inflammation. The team will usually include:

Doctors- GP, gastroenterologists, pulmonologists/respiratory specialists
Nurses, nurse practitioner
Dietitians- a special diet high in calories, salt and fat is required
physiotherapists, respiratory therapists
pharmacists
social worker

Medications

Bronchodilators- such as Ventolin relax and open up the airways so mucus can be coughed up more easily.
Mucous changing drugs- such as Pulmozyne help breakdown mucus so that it can be coughed out more easily
Airway Surface Liquid Restorers- these increase fluid in the airways to assist in thinning mucous out making it easier to clear
Antibiotics- assist in treating infections that regularly occur in CF
Anti-inflammatories- reduce inflammation in the lungs
CFTR modulators- target the underlying defect in the protein that regulates salt coming in and out of the cells
Pancreatic enzymes- improve digestion by replacing enzymes normally produced in the pancreas that are required to digest fats, carbohydrates and proteins
Salt- often needed to replace the large amounts of salt lost in the sweat increasing risk of dehydration
Vitamins- due to maldigestion and malabsorption of nutrients especially fat, fat soluble vitamins such as ABDEK are often required

Gastric Acid Reducing Medications- such as Nexium treat Gastro-Oesophageal Reflux Disease (GORD) by reducing acid in the stomach which reduces irritation and indigestion.

Physiotherapy

Physiotherapy is an essential part of treatment. Due to chronic mucus build up, physiotherapy helps to mobilise mucus, improve breathing, reduce risk of infection, improve lung function, increase exercise tolerance and build strength. Techniques are often taught to family members so that daily intervention can be performed between physio sessions. This is especially important at times with the person has an infection and may be required multiple times a day.

People with CF may require a lung, liver or pancreas transplant to prolong their lives.

Historically, treatment has been focused on controlling symptoms and preventing complications, however with newer types of medications ‘modulator therapies’ that target the cause of cystic fibrosis treatment is improving significantly.

Complications of CF