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WHAT IS CYSTIC FIBROSIS?

 

Cystic fibrosis is an hereditary disease caused by an abnormal gene. The condition affects the exocrine glands in the body (including the sweat and sebaceous glands) resulting in chest problems and possibly causing the body to have difficulties absorbing nutrients from food.

Cystic fibrosis is the most common life-threatening hereditary disease in the UK. More than 7,500 people in the UK have it, and currently three sufferers die every week. However, life expectancy levels are increasing all the time.

 

The effects of cystic fibrosis

 

A person with cystic fibrosis lacks a protein that regulates the passage of salts and water across the cells that line the surfaces of the lungs and digestive system. This results in the production of thick, sticky secretions and a build-up of mucus.

 

• The build-up of mucus in the lungs limits their ability to clear bacteria. This can lead to repeated infections and inflammation, which progressively damages the lung tissue. Complete respiratory failure can result and a lung transplant may be the only chance of survival. 
• Blockages can occur in the lower intestine, producing abnormal stools. 
• Pancreatic damage can lead to poor production of insulin and diabetes is common in adults with cystic fibrosis. It may also cause malnutrition because food is not digested properly. 
• As life expectancy increases for people with this disease osteoporosis is becoming a common complication of cystic fibrosis in older people.

Symptoms

 

A newborn baby may have a swollen stomach and may not pass any stools for a few days after birth. Other signs that emerge later include:

 

• Frequent chest infections
• Poor weight gain
• Malnutrition
• Abnormal stools that have an unusual smell

 How is the cystic fibrosis gene detected?

 

Screening will be offered to couples who have a family history of cystic fibrosis. The disease cannot be passed on unless both partners are carriers. A child born of parents who are both carriers of the faulty cystic fibrosis gene has a one-in-four chance of having the disease. Cystic fibrosis can be detected using the following methods:

 

• A mouthwash test is used to detect whether someone is carrying the cystic fibrosis gene. 
• Antenatal testing is offered at an early stage in pregnancy to mothers who are at high risk of passing on the disease, for example, if they have relatives with cystic fibrosis. 
• Newborn babies can be tested for cystic fibrosis by means of a heel-prick blood test. A third of babies born in the UK are currently tested in this way. 
• Ultrasound scans may reveal blockages in the bowel of the unborn baby, which can indicate the presence of cystic fibrosis.

Caring for a child with cystic fibrosis

 

The most immediate concern for people with cystic fibrosis is to try to unclog the mucus blocking their lungs in order to reduce infections and tissue damage. This is attempted by means of:

 

Breathing exercises: these exercises should be taught by a physiotherapist and consist of breathing control, deep breathing and a technique called huffing.

 

Daily physiotherapy: this can involve tipping the sufferer upside down to release mucus and unclog the lungs and airways, and percussion - tapping the chest area to dislodge mucus.

 

Regular physical exercise: trampolining is highly recommended for children who are strong enough, because it exercises the lungs and chest muscles and the jumping motion can help to shift and disperse mucus. Swimming, running and walking can also be highly beneficial.

 

Controlled diet: medical supervision of food intake is important because the effects of cystic fibrosis can vary. To reduce the risk of malnutrition, it's important that people with cystic fibrosis have a diet that is sufficiently high in protein, calories and extra vitamins if required

 

Enzyme supplements: pancreatic damage means that people with cystic fibrosis usually have to take enzyme supplements with every meal.

  

Types of treatment available

 

There is currently no cure for cystic fibrosis. However, new drugs are helping to counteract some of the symptoms of the disease and reduce any damage to the internal organs.

 

*  Mucus-thinning drugs such as Pulmozyme@ can help to clear internal blockages 

*  Bronchodilating drugs can reduce obstruction to the airways to make breathing less constricted. Sometimes a nebuliser may be   used 

*  Antibiotics can be sprayed directly on to the lungs to treat any infection

*  Anti-inflammatory agents can reduce the risk of tissue damage 

*  Surgery may be necessary for babies with cystic fibrosis who are born with severe intestinal blockages. 

 

Quality of life and life expectancy

Modern drugs and advances in medical treatment and care have dramatically improved life expectancy and the quality of life for people with cystic fibrosis.

 

• In 1964, the average life expectancy of cystic fibrosis sufferers was just five years. Today it is 31. However, many people with cystic fibrosis live longer than this. 
• Longer life expectancy and better treatment of symptoms has enabled many people with cystic fibrosis to lead active lives, take further education and build a career. 
• Improved medical treatment has enabled some women with cystic fibrosis to give birth. An increasing number of women with the disease are giving birth happily and remaining in good health to care for their children. 

The outlook for people with cystic fibrosis is improving. With specialized treatment and care, many can be expected to live well into their 30s.

 

For  More  Information:  Please  consult  your  physician  on  your  next  visit.