CYSTIC FIBROSIS - a patient's guide
Editorial Team

Overview

Cystic fibrosis is the most common serious inherited disorder.

It causes problems with breathing and the digestive system.

Lung problems are common because of thick mucous in the respiratory system.

Digestive problems are caused by missing enzymes which absorb food.

Symptoms include strange faeces at birth, coughing, salty skin and growth failure.

Early diagnosis is important for extending the life of sufferers.

Treatment includes extensive drug therapy and chest physiotherapy.

About 50 percent of sufferers will live past 20, few will be alive after 35 - but the outlook for sufferers is improving all the time.

What is it?

Cystic fibrosis is the most common chronic lung disease among children and adults.

It is an inherited disorder which causes abnormalities with the lungs and digestive system. About 80 percent of sufferers will have both respiratory and digestive problems. About 15 percent have lung problems only.

The condition is caused by a defective gene which causes thick mucus to block the airways which can lead to lung infections.

Many digestive enzymes used by the body to breakdown and absorb food are also missing in cystic fibrosis patients, leading to malnutrition and failure to thrive.

About one in 25 Caucasians are carriers of the cystic fibrosis gene, and about one out of 2500 have the condition. Around one in 400 couples are at risk of having a child with cystic fibrosis. Two partners with the gene have a 25 percent chance of having a child with cystic fibrosis.

Most people with the disease will die before they reach 35.

What are the symptoms?

Symptoms begins just after birth with the discovery of unusual feces. There is no meconium stool in the first 24 hours, bowel movements may be pale or tan coloured and foul smelling.

The infant's skin may taste salty and they may have persistent coughing and wheezing. A severe coughing fit can lead to a sufferer coughing up mucous or vomit.

Other symptoms include weight loss, diarrhoea, tiredness, clubbing of fingers or toes and growth retardation.

Newborn infants can be screened for cystic fibrosis with a blood test. Further diagnosis includes tests of feces, a sweat chloride test, bowel and gastrointestinal investigations, genetic testing, and a bone x-ray.

Cystic fibrosis causes recurrent lung infections, cirrhosis of the liver, pain in the right abdomen, delayed puberty, heart failure, and cancer of the small intestine in rare cases. Most male sufferers are infertile.

In the past, few cystic fibrosis patients lived past their childhood years. Now improved treatment means about 50 percent of children with cystic fibrosis will still be alive at 20. The average age of survival is 31. Few sufferers will reach 35. Patients die from lung complications such as pneumonia or chronic respiratory failure.

What can be done?

Early diagnosis is important to develop treatment programmes to lengthen the life expectancy of sufferers.

Daily chest physiotherapy to help clear mucous in the lungs is necessary for people with cystic fibrosis.

Most patients will take up to 40 enzyme replacement tablets each day to improve digestion. They also need a high-fibre diet with added salt and vitamin supplements.

Bronchodilators are used to treat bronchospasms, and antibiotics are necessary to treat lung infections.

A new drug treatment called dornase is used to replace the DNAase enzyme. This is beneficial for certain groups of patients. Some countries have developed criteria for the use of this drug.

Lung and/or heart transplants are considered for some patients.

The use of trampolines is recommended for children with the disease because jumping can help clear mucous from the lungs.

How can it be prevented?

Family members of a cystic fibrosis patient may chose to be screened for the cystic fibrosis gene.

DNA analysis of babies in the womb will enable diagnosis of the condition before birth.

Future trends

A recent study found the drug ibuprofen could slow disease progression in children with cystic fibrosis.

Gene therapy to change the cystic fibrosis gene is a possibility for the future. However, this technology is still several years away.

Research into correcting the gene before birth is also underway.