A guide to Cystic Fibrosis (CF) for first aiders
CF is an inherited genetic disorder, with one in 25 people carrying the CF gene, usually without knowing it.
CF results from the mutation of a single gene responsible for building a protein in the cells of the lung, pancreas and other organs that controls the passage of chlorine ions in and out of the cell.
For a baby to be born with CF, both parents have to carry the faulty CF gene, however, even if they do, the child has a one in four chance of being born with CF and a two in four chance of being a carrier, but not having the disease.
In patients with CF, the lungs produce thicker mucous than normal which can trap bacteria in the small airways and lead to infection, as a result, symptoms which can typically develop include:
- persistent cough which typically produces a lot of sputum;
- shortness of breath and breathing difficulties;
- recurring chest infections, including pneumonia.
Repeated infections can damage the lung and lead to poor lung function.
In the digestive tract, CF makes it extremely difficult to digest and absorb adequate nutrients from food.
The pancreas normally produces enzymes, which flow out from the pancreatic duct into the duodenum and digest food. In people with CF, thickened secretions block the normal flow of the enzymes from the pancreas.
This can result in food not being digested or absorbed properly, in particular, fatty foods and fat-soluble vitamins (vitamins A, D, E and K). This can cause:
- malnutrition leading to poor growth and poor weight gain;
- large, smelly, greasy, fatty feces occuring in about a third of cases;
- a bloated abdomen.
Therefore, people with CF must consume a number of artificial enzymes with every meal and snack, to help them absorb adequate nutrition from their food.
In about three in 20 cases, however, the pancreas functions well and there are no, or minimal, digestive symptoms, just lung symptoms.
They must also follow a daily routine of physical therapy to keep the lungs free of congestion and infection.
About one in ten children with CF are diagnosed shortly after birth. This is due to a condition called meconium ileus where, in some cases, the digestive system becomes blocked with meconium (first stool of the baby). Urgent surgery may be needed to relieve the blockage.
Other problems which may also occur in some cases include:
- repeated sinus infections.
- polyps forming in the nose.
- damage to the liver which may lead to cirrhosis (occurs in about one in 12 cases);
- pancreatitis (inflammation of the pancreas);
- rectal prolapse;
- osteoporosis may develop due to poor absorption of food, and in particular, poor absorption of vitamin D which is needed to maintain healthy bones.
Adults with CF are also at an increased risk of osteoporosis because of the adverse effects of steroids taken to control lung disease.
Ongoing poor nutrition combined with persistent lung symptoms and repeated chest infections often causes ‘failure to thrive’ in young children, delayed maturation and sexual development in teenagers, and general poor health at any age.
In older patients, insulin production can become deficient due to increasing pancreatic disease. Some develop diabetes mellitus and their blood sugar levels are no longer controlled.
Treatment programmes are normally tailored to individual requirements and depend upon the stage of the disease and which organs are affected. Treatments followed at home can include:
- vigorous percussion of the chest and the back to help loosen the mucus which clogs the lungs;
- taking pancreatic enzymes with all meals, to aid digestion;
- taking nutritional supplements and vitamins to promote good nutrition;
- taking antibiotics to ease congestion and protect against and fight lung infection;
At present there is no cure for CF, but the faulty gene has been identified and doctors and scientists are working to find ways of repairing or replacing it.