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Cystic Fibrosis

Cystic fibrosis, or CF, is an inherited disease of the secretory glands, which include glands that produce mucus and sweat.

CF normally affects the lungs, pancreas, liver, digestive tract, sinuses and sexual organs.

Among people with CF, mucus in lungs, pancreas and other organs tends to accumulate, resulting in clogging lungs airways and trapped bacteria, and leading to recurrent infections, lung damage and eventually respiratory failure.

Mucus in the pancreas also prevents the release of digestive enzymes that allow the body to digest food and absorb vital nutrients.

Symptoms of CF:

People with CF can have numerous symptoms, including:

  • Salty-tasting skin
  • Persistent coughing, mostly with phlegm, shortness of breath and wheezing
  • Recurrent lung infections including pneumonia or bronchitis
  • Inadequate  growth and slow weight gain
  • Stools that are frequent, greasy and bulky; occasional difficulty with bowel movements
  • Male infertility

Genetics:

CF is a genetic inherited disease. The term "inherited" means the disease passes from parents to children through the genes. 

People with CF have inherited two copies of the defective CF gene, one copy from each parent, thus both parents must have at least one copy of the defective gene. However, the parents are not likely to have the disease themselves.

People with just one copy of the defective CF gene are named carriers, and do not have the disease. Each time two CF carriers have a child, the chances are:

  • 25% that they will have CF
  • 50% that they will be a carrier but not have CF
  • 25% that they will not be a carrier and will not have CF

The abnormality in the gene causing CF is called a mutation. There are more than 1,800 known distinct mutations of CF gene.

Diagnosis:  Screening and testing for CF

Most cases of cystic fibrosis are now detected soon after birth thanks to the newborn blood spot test. This is performed collecting a drop of blood from the baby's heel and testing it for abnormalities that could indicate cystic fibrosis.

After a first positive reaction, additional tests will be needed to confirm the diagnosis, such as:

• Sweat test – to measure the amount of salt in sweat, as the sweat of someone with CF has higher levels of salt than normal

• Genetic test – where a sample of blood or saliva is checked for the faulty gene that causes CF

These tests can also be carried out in older children and adults with symptoms of CF who haven't been screened previously.

What to expect with CF:

CF is a complex disease and the types and severity of symptoms can differ from one to another. Many different factors, including the specific mutation, and age of diagnosis for instance, can affect a patient's health and the disease’ course.

People with CF are at greater risk of getting lung infections because thick, sticky mucus builds up in their lungs, allowing germs to thrive and multiply. Lung infections, caused mostly by bacteria, are a serious and chronic problem for many people with the disease. Minimizing contact with germs is a top concern for people with CF.

Mucus build-up in the pancreas can also restrict the absorption of food and key nutrients, resulting in malnutrition and poor growth.

The thick mucus can block the bile duct in the liver too, causing liver disease.

CF can affect the ability of men to have children.

Treatments:

There's no known cure for CF. Still, it's possible to help control the symptoms, prevent or reduce complications, and make the condition easier to live with.

The type and severity of CF symptoms differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each patient's unique circumstances. People with CF need to work closely with their medical professionals and families to develop customised treatment plans.

Each day, people with CF complete a combination of the following symptomatic treatments:

  • Airway clearance, to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin out the mucus.
  • Inhaled medicines to open the airways or thin the mucus. These are liquid medicines that are made into a mist or aerosol and then inhaled through a nebuliser. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
  • Following a special diet and taking supplements to prevent malnutrition. A dietitian will advise on what you can do to help avoid malnutrition. They may recommend:
    • Taking digestive enzyme capsules with all meals and snacks to help with digestion
    • Following a special high-calorie, fat and protein balanced diet
    • Taking vitamin and mineral supplements
    • Taking Omega 3 fatty acids supplements daily, i.e. docosahexanoic acid DHA