WHAT IS CYSTIC FIBROSIS?

Cystic fibrosis is a disease that changes how your body makes mucus and sweat. It affects how well your lungs, digestive system, and some other body parts work. It’s caused by a flawed gene.

Cystic fibrosis is an inherited disease.

For someone to get cystic fibrosis, both parents must be carriers of the gene that causes it and then pass it on. That means 25% of the children of such parents will have cystic fibrosis. Boys and girls are equally likely to get the disease. Cystic fibrosis is more prevelent when close relations marry, such as first cousins. Over 50% of marriages in the Middle East are among couples who are first or second cousins.

If you have cystic fibrosis, you may have mucus that’s too thick or sweat that’s too salty. If heavy mucus clogs your lungs, it’s hard to breathe. It can also block your pancreas, an organ in your belly, so you can’t digest your food as well. The disease may make you sweat away too much of the salt your body needs to work well.

Most people diagnosed with cystic fibrosis today are babies, thanks to newborn screening programs. More than 75% of children with cystic fibrosis get a diagnosis by age 2. In some cases, people don’t find out they have cystic fibrosis until they’re teens or adults. Parents can also test their babies for cystic fibrosis before they’re born.

Cystic fibrosis is a serious disease that can be life-threatening. But it’s different for everyone. Symptoms are mild for some people and severe for others. The good news is that most people with cystic fibrosis now live twice as long as they did 30 years ago. Today, some people are living into their 40s, 50s, or longer.

The key is to get treatment as early as possible. Right now, there are many ways to ease symptoms and help you manage the condition.

Turkey is the only country in the Middle East that has a newborn screening program. Lack of screening in the region results in a low number of early diagnosed patients . Many clinicians do not understand the symptoms of CF well enough to initiate testing and often necessary diagnostic equipment is not available. MECFA has begun a program to donate diagnostic equipment to target hospitals in the region and offering genotyping resources.

How is cystic fibrosis diagnosed?

Diagnosing cystic fibrosis in an unborn baby is possible through genetic testing. The National Institutes of Health in the US recommends that genetic testing for cystic fibrosis be offered to all expectant couples or those still planning a pregnancy, especially if they have a family history of the disease..

A child who shows poor growth and has repeated lung or sinus infections or both may have cystic fibrosis. The standard test for cystic fibrosis is the quantitative sweat chloride test, or "sweat test," which measures the amount of salt in the sweat.

The sweat test is difficult to do in newborns because they do not sweat. For newborns, an immunoreactive trypsinogen test (IRT) may be used instead. This test involves drawing blood and looking for a specific protein called trypsinogen. A positive IRT test may be confirmed at a later date with genetic testing or a sweat test.

Other tools that help with diagnosis include chest X-rays and lung function tests, which may show lung problems common in cystic fibrosis. Tests of stool samples may show digestive problems.

Follow the MECFA Newborn screening working group and help us ensure all infants born with CF in the Middle East region are diagnosed early and receive quality treatment so they can live long and healthy lives.

How is cystic fibrosis treated?

Treatment for cystic fibrosis focuses on both lung health and digestion. To find a list of medication available in the Middle East, click here.

Treating Lung Problems
Doctors will focus on preventing lung infections. Daily chest physiotherapy (CPT), also known as percussion and postural drainage, helps to loosen mucus in the lungs and helps with coughing. During CPT, the person is put into a position that helps drainage, and then all areas of the lungs are "percussed" by clapping on the person's back with a cupped hand. Family members can perform CPT on small children, while older children and young adults can learn to do it themselves. CPT is usually performed twice a day, though it may be done more frequently when the person has an active lung infection. Treatments using vibrating vests are also being widely used and appear to be better in many children. Regular exercise also helps to loosen and move secretions and maintain lung and heart fitness.

Antibiotics are crucial to treating cystic fibrosis lung infections.

Mucus-thinning drugs help get rid of mucus in the lungs.

Anti-inflammatory drugs help lower inflammation in the lungs.

Treating Digestive Problems
People with CF need to eat a well-balanced, high-calorie, high-protein diet. Their reduced absorption of nutrients often means that as children, they must get up to 150% of the recommended daily allowances to meet their growth needs. Multivitamins and supplements of vitamins A,D, E and K, are also important. To help digestion, most people with cystic fibrosis need to take pancreatic enzymes before every meal and snack and extra enzymes to help digest high-fat foods. Those with severe digestive problems may need supplemental feedings with specialized, high-calorie formulas either with a feeding tube or, in rare cases, through a vein.

Gene Therapy
Gene therapy attacks the cause of cystic fibrosis rather than just treating the symptoms.

Transplants
Some cystic fibrosis patients have had lung transplants to replace failing lungs. The only countries currently offering transplants in the region are Turkey and Saudi Arabia.

All patients with cystic fibrosis need to be seen regularly by a CF specialist and allied health professionals.

To learn more about cystic fibrosis in the Middle East, visit;

CF Lebanon

CF Palestine

CF Egypt

CF Armenian Association

KIFDER Turkish CF Organization

CF Pakistan

International CF organizations and news sources, visit;

European CF Society

CF Foundation

CF Europe