ABOUT CYSTIC FIBROSIS

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What is Cystic Fibrosis?

Cystic Fibrosis, (CF) is an inherited genetic disease that affects a number of organs in the body, primarily the lungs and pancreas by clogging them with thick and sticky mucus. Repeated infections and blockages can cause irreversible lung damage and death. Mucus blocks the tiny ducts of the pancreas which supply enzymes required for digestion, and consequently food is not properly digested and nutritional value is lost in the process.

The sweat glands are also affected and the body may lose an excessive amount of salt during exercise or hot weather.

In early childhood, prominent symptoms include growth problems or frequent infections, especially of the lungs. As the disease progresses, frequent lung infections (pneumonia) often lead to problems breathing, lung damage, prolonged courses of antibiotics, and respiratory failure requiring support by a ventilator. CF can also lead to frequent sinus infections, diabetes mellitus, difficulty with digestion and infertility.

The most consistent aspect of therapy in cystic fibrosis is limiting and treating the lung damage caused by thick mucus and infection with the goal of maintaining quality of life. Intravenous, inhaled and oral antibiotics are used to treat chronic and acute infection.

There is no cure for CF and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure. However, with the continuous introduction of many new treatments, the life expectancy of a person with CF is increasing to ages as high as 40 or 50 in some CF individuals.

What causes Cystic Fibrosis?

People are born with Cystic Fibrosis; it is a genetic disorder. CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) which helps create sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one gene is needed to prevent cystic fibrosis. CF develops when neither gene works normally. The CFTR gene is therefore a recessive gene and because both men and women can develop cystic fibrosis, CF is known as an autosomal recessive disease. The name cystic fibrosis comes from the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.

When two people who carry a defective version of the gene responsible for CF have a child, there is:

  • 25% chance that the child will be born with cystic fibrosis;
  • 50% chance that the child will not have CF, but will be a carrier;
  • 25% chance that the child will not have CF, and will not be a carrier.

CF is one of the most common inherited disorders of caucasians (whites). In South Africa 1 in 27 individuals in the White population, 1 in 50 in the coloured population and at least 1 in 90 in the black population carriers a CF mutation. The total is increasing as more children are correctly diagnosed, treated earlier and living much longer.

What are the signs and symptoms of Cystic Fibrosis?

Cystic Fibrosis is a disease of many disguises. The exact symptoms can vary greatly from person to person. The early symptoms of CF are also often very similar to other childhood problems. This can make it difficult to diagnose and as result may go undiagnosed or even misdiagnosed. Here is a list of some common symptoms of CF:

Early symptoms (infancy and early childhood):

  • 15–20 % of children born with CF are diagnosed at birth because theypresent with an intestinal blockage known as meconium ileus.
  • persistent cough which expels thick mucus;
  • recurrent pneumonia
  • difficulty breathing
  • excessive appetite, with weight loss;
  • bowel disturbances, i.e. fatty / grey coloured stools;
  • extremely salty tasting skin;
  • excessive sweating in a very high salt content
  • small salt crystals forming on the scalp
  • failure to thrive

Later symptoms (later childhood/adolescents/adults):

  • clubbing (enlargement) of the fingertips
  • persistent chest symptoms
  • uncontrolled “asthma”
  • bronchiectasis
  • male infertility/azoospermia
  • sinusitis / nasal polyposis

Some of the common diseases that CF can sometimes be confused with is asthma, chronic bronchitis or pneumonia

Diagnosis

The sweat test remains the most important and frequently used clinical test for the diagnosis of Cystic Fibrosis in South Africa.

What is a sweat test?

CF affects the exocrine glands. The sweat gland is a type of exocrine gland. CF causes an abnormal amount of salt to be lost in the sweat. The basis of the test is measuring the salt content in the sweat. If the child has CF, the analysis will show a high salt (sodium and chloride) level. This is a simple, painless and inexpensive test. However to be accurate it must be performed and interpreted correctly.

It is important to keep in mind that the test does not give an indication of the severity of the disease. This test cannot be used to identify a carrier since they do not have CF and therefore have normal sweat glands.

Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing and in overseas countries newborn screening tests are increasingly common. Due to the low numbers of affected people in South Africa, newborn screening tests are not performed unless there is a high risk of the child having CF.

How many South Africans have Cystic Fibrosis?

There is currently no conclusive database of CF patients in South Africa, however information from the three regional CF Associations indicate that there are approximately 700 people with Cystic Fibrosis in South Africa presently.

In addition to this, due to the complex nature of the disease an unknown number of people with CF from the outlying/rural areas are misdiagnosed and do not have access to proper treatment. These people (more specifically children) sadly often die from malnutrition or pneumonia.

SACFA hopes to reduce the incidence of misdiagnosis by raising awareness of the disease in all parts of South Africa.

What CF is NOT

CF is not contagious:
Due to the frequent coughing of children with CF, it is often thought to be contagious. The fact is every child that has CF is born with it. It is an inherited disorder.

CF is not caused by anything the parents did:
Parents often feel responsible for everything that happens to their children. It must be made clear that nothing parents do before or during pregnancy can cause CF.

CF does not impair intellectual ability:
People sometimes confuse CF with cerebral palsy (CP). Cystic Fibrosis does not involve the brain and therefore does not impair intellectual ability at all.

CF is not curable, at this time:
There is no cure for CF at this stage, although the drugs and methods to treat CF improve every day. This helps people with CF to grow up and lead active, productive lives.

Treatment

Where is CF treated?
Persons with CF are treated in specialized clinics at State Hospitals around the country (click here to find details on the clinic in your area). With primary health care and the treatment of other diseases like HIV/AIDS increasingly enjoying priority, specialized health care is suffering and the regional CF Associations are having to fund Doctors, support staff and equipment.

What is the treatment for Cystic Fibrosis?
Individualized treatment programs, involving mainly home treatment, generally include:

  • inhaling of medications to alleviate congestion;
  • intravenous antibiotics for a two week period every 3 to 12 months to ward off or combat particularly nasty germs which persons with CF are susceptible to, for example pseudomonas;
  • pancreatic enzyme capsules to improve food absorption (often as many as 40-50 capsules a day);
  • exercise programs and sporting activities.
Physiotherapy / Airway clearance techniques?

Chest Percussion
This technique aids clearance of secretions up and out of the lungs and increasing the amount of air entering the lungs. A cupped hand is used to clap the chest firmly (it is more comfortable through clothing or a towel). Chest percussion is often combined with postural drainage positions. Parents or carers will be taught the chest percussion and other friends can be taught as the person with CF becomes an adult.

Why is chest percussion important?
Chest percussion is important because helps to prevent the thick, sticky lung secretions from blocking the air tubes. This helps to reduce infection and prevent lung damage.

How much chest percussion is needed?
The length of treatment sessions varies according to need. If there are few or no secretions, treatment sessions may only need to last 10-15 minutes. However, it could take as long as 45-60 minutes if there are many secretions to be cleared.

The number of treatment sessions should be varied. Most people do two a day when all is well, increasing to four a day when necessary. If no secretions are present, some people with CF only need treatment once a day. Your physiotherapist can advise you on how much chest percussion is appropriate.

Who will do chest percussion?
At first the adults that care for the child should do it. Later on, relatives or friends should learn so that no one person becomes indispensable.

Breathing exercises can be introduced in the form of a game from the age of two or three. From around the age of nine, most children can start doing part of their physiotherapy for themselves.

Most teenagers become completely independent and only require help if they have increased secretions.

Breathing Techniques (The Active Cycle of Breathing Techniques)
A physiotherapist can teach a variety of breathing techniques. These techniques use controlled deep and shallow breathing to move mucus up through the airways. Breathing techniques are also used to help re-inflate any areas of the lungs which may have been deflated because of mucus blockage of the airways.

Flutter Therapy/Bronch-u-Vibe
This technique uses a handheld oscillating positive pressure device through which you breathe out against an alternating resistance. This causes back pressure which results in expansion of the small airways, keeping them open for longer, whilst mini bursts of air flow move secretions out of the small airways and into larger airways where they can be cleared with a huff of cough in combination.

Positive Expiration Pressure (PEP)
PEP therapy involves breathing out though a mask or mouthpiece where a backpressure is created in the lungs by only allowing air out through a small hole. This back pressure expands the small airways and opens side channels (collateral ventilation) to get behind secretions, moving them to larger airways where they can be cleared.

Vibrations
These are usually done in a drainage position in alternation with percussion. “Vibes” are a gentle shaking or vibrating of the chest whilst breathing out. This creates mini bursts of air flow which dislodge the secretions, moving them up and out of the airways. They are usually followed by a huff or cough in combination, to clear secretions from the lungs.

Autogenic Drainage
This technique was developed in Belgium and is a controlled method of breathing that requires no equipment. It involves training to breathe at three lung volumes:

  • low-lung volume to ‘unstick’ mucus
  • mid-lung volume to ‘collect’ mucus
  • high-volume manoeuvres to ‘expel’ mucus
  • This technique requires extensive training and frequent practice.

The Vest™ system
The Vest™ system is an easy-to-use airway clearance device for both children and adults. It was originally introduced in 1988. The Vest™ System is currently used widely mainly in the U.S.A.. In South Africa, due to the costs (approximately R150 000 per vest), this system is currently not used by many CF patients. The device consists of an inflatable vest connected by two tubes to a small air-pulse generator. The current patented version is quiet and easy to transport, enabling people to receive effective airway clearance therapy at home, work, or on the road.

Speak to the physiotherapist at your clinic if you have any queries about your individual physio treatment. Always ask your doctor before considering any change in your treatment.

Medication

Medication for Cystic Fibrosis patients can cost up to R30 000 a month depending on the severity of the disease. Please note the below mentioned is purely an indication of what medication is used generally for CF patients – it is for information purposes only. Always ensure that you discuss your treatment plan with your CF specialist in your area.

Cystic Fibrosis affects mainly the lungs and the digestive tract – these areas are likely to require medication.

Lungs

Medication can be administered in various ways:

  • inhaled into the lungs using nebulisers, taken orally, or taken intravenously.
  • These drugs treat the lungs in the following ways:
  • Bronchodilator drugs open the airways by relaxing the surrounding muscle. They relieve tightness and shortness of breath.
  • Antibiotics help to treat or control persistent infection.
  • Hypertonic saline has been evaluated and benefits most patients. It can be helpful where secretions are particularly thick.
  • Steroids can help reduce inflammation in the airways.

Digestive Tract
Cystic Fibrosis affects the pancreas, so enzyme replacement capsules should be taken with meals and snacks to replace pancreatic enzymes and enable people with CF to gain more energy from the food they eat.

Pancreatic Enzyme Insufficiency
Pancreatic enzyme insufficiency is one of the common symptoms of CF. The CF gene defect results in a thickening of the pancreatic secretions. The accumulation of thick secretions causes obstruction and eventually leads to damage of the pancreas. Pancreatic enzyme insufficiency prevents digestion and absorption of nutrients. Large, bulky, smelly stools containing undigested nutrients are a direct result of a lack of pancreatic enzymes.

Pancreatic enzyme insufficiency is treated with pancreatic enzyme replacement capsules, which should be taken with every meal or snack. Dosing can be based on the fat content of the food items. Foods containing only carbohydrate, such as fruit, juices and boiled lollies will not require pancreatic enzyme replacement capsules.

Pancreatic Enzyme Replacement Therapy (PERT)
Specially coated enzyme beads (microspheres) have been a treatment breakthrough for people with CF. Effective and acceptable enzyme replacement therapy has been a significant factor in maintaining health for those with CF.

For infants and younger children, who cannot swallow capsules whole, the capsules can be opened and the enteric coated microspheres mixed with fruit gel. This is then fed to the infant before and during their feed. Older children can have the microspheres mixed with yoghurt or pureed fruit.

Dosage of Enzymes
The physician and dietician will monitor pancreatic enzyme therapy dosing. The dietician will provide information on the correct dosage of enzymes for different foods.

Enzyme Storage
Certain areas in South Africa have unique climate which is not suited to preserving the potency of enteric coated microspheres. Parents and adults with Cystic Fibrosis need to be aware that this is costly medication and needs to be handled carefully. The Pancreatic Enzyme Replacement Capsules need to be stored below 25C, and kept in the dark and dry. They do not like to be left in the car. During summer, the preparations can go off quickly.

Your dietician or doctor can advise you on the appropriate type/dosage of enzyme supplement.

Vitamin supplements
All CF individuals should receive supplements of the fat soluble vitamins A,D & E. Please refer to the South African Cystic Fibrosis Consensus Document for guidelines on daily recommended intake for nutritional supplements.

Exercise

Research demonstrates a clear link between regular exercise, weight gain, body mass, lung function and survival in CF.

Exercise is an important part of the daily treatment routine for people with CF as it assists with airway clearance and builds up muscle mass and strength.

Coughing is a natural part of having CF. People with CF are encouraged to cough and should not suppress this important airway clearance mechanism.

During sporting activities people with CF may experience coughing, wheezing and/or breathlessness.

If any of these symptoms are experienced by a person with CF, it does not necessarily mean that they need to give up their sporting activity. If in doubt individuals should consult their doctor and physiotherapist. Some may need to use a bronchodilator before exercising.

People with CF are encouraged to drink plenty of water during and after exercise to avoid dehydration especially in hot weather.

Those who live in conditions of high environmental temperature should take salt replacement tablets (normally 1 – 3 per day) may be needed during periods of exercise as people with CF lose excessive amounts of salt in their sweat. Speak to your dietician or doctor.

CF specialist clinics should be consulted to advise gym instructors and physical education teachers if they have any concerns regarding the participation of a person with CF in specific physical activities.

PLEASE NOTE: Exercise does not replace regular physiotherapy.

Transplantation

Transplantation remains the best option for prolonging life for many patients with CF who are nearing death. In South Africa there is a dedicated transplant team based in Johannesburg, Gauteng.

The following general information has been provided as a basic guide to people with CF. For information that relates to their personal health and situation people are encouraged to discuss the issue with their CF specialist.

Lung transplantation is an option for people with advanced lung disease resulting from CF.

Making the decision
Your CF specialist may discuss the option of a lung transplant with you when you have developed severe lung disease. This may be when your lung function levels have fallen below a certain point, when you have had an increased frequency of hospital admissions or you have an increasing resistance of bacteria to antibiotics.

Referral
When you have made the decision to have a lung transplant your doctor will refer you to the transplant centre for assessment. This will involve a series of clinical and laboratory tests both physical and psycho-social to determine suitability.

Lung transplantation may not be appropriate for some people with CF as there are some factors that increase the risk of complications developing after transplant. Your CF specialist will be able to discuss these with you.

Does CF “go away” after transplant?
The transplanted lungs come from people who do not have CF, so the new lungs do not have and will not develop CF. However, after transplant the person still has CF in the pancreas, sweat glands, sinuses and reproductive tract. The person still has to take enzymes with food and to help absorb the anti-rejection medications.

Challenges
Transplanted lungs are susceptible to infection, rejection and other complications that require treatment. Following transplantation the immune system is suppressed to help prevent organ rejection and this will decrease the ability to fight infections. Therefore people must become vigilant about their drug treatment in that they need to take their drugs at the same time every day. This ensures that the most constant levels of immunosuppressive drugs is maintained. At first, this, along with the number of drugs, can be quite overwhelming. However, people with CF tend to adjust easily as they are used to taking daily medication. They are swapping one lot of treatment for another. They are also used to attending outpatient clinics and generally taking an active role in the management of their treatment. In addition their careers and families are well rehearsed at providing much needed support.

Benefits
After recovery from the surgery many people with CF find they have more energy, can gain weight more easily and are more active than they were before.