Cystic Fibrosis (CF): Causes, Symptoms, Diagnosis & Treatment

OverviewCystic fibrosis (CF) causes sticky, thick mucus to build up in your organs.What is cystic fibrosis (CF)?

Cystic fibrosis (CF) is a genetic (inherited) disease that causes sticky, thick mucus to build up in organs, including your lungs and pancreas.

If you dont have CF, the mucus that lines organs and body cavities, such as your lungs and nose, is slippery and watery. If you do have CF, thick mucus clogs the airways and makes it difficult to breathe.

Mucus also blocks the ducts in the pancreas, causing problems with digesting food. Babies and children who have CF might not be able to absorb enough nutrients from food. CF, which is chronic (long-lasting) and progressive (getting worse over time), also affects your liver, sinus, intestines and sex organs.

Theres also a form of disease called atypical cystic fibrosis. Its different from classic CF because its a milder form and may only affect one organ. The other atypical thing about it is that it usually comes on much later in life. Typical or classic CF generally shows up in the first few years of a childs life.

Among white children in the U.S., the rate of CF cases is 1 in 2,500 to 3,500 newborns. CF affects about 1 in 17,000 Black newborns and 1 in 31,000 newborns of Asian descent.

Cystic fibrosis is genetic. People who have CF inherit two faulty genes, one from each parent. CF is said to be recessive because you need to have two gene variants to have the condition itself. (An older name for gene variant is gene mutation.)

Your parents dont have to have cystic fibrosis for you to have CF. In fact, many families dont have a family history of CF. If your family doesnt have a history of cystic fibrosis, the person with the gene variant is called the carrier. About 1 in 31 people in the U.S. is a carrier who is free of CF symptoms.

Classic cystic fibrosis

Children who have classic CF have the following symptoms:

Atypical cystic fibrosis

People with atypical cystic fibrosis may be adults by the time they're diagnosed with atypical CF. Respiratory signs and symptoms may include:

Other signs and symptoms of atypical CF may include:

In most cases, CF is diagnosed during childhood. Doctors diagnose CF with a thorough evaluation and by using different tests. These include:

In people who have atypical cystic fibrosis, the sweat test may be normal in terms of the levels of chloride. Some people with atypical CF may have been born before testing became routine. Your provider may order NPD and ICM tests when the diagnosis is questionable.

Youll probably have a healthcare team that includes a specialist in cystic fibrosis and many other types of caregivers. There is no cure for cystic fibrosis, but your team will help you manage the disease. The major focus of management is keeping your airways clear. Your provider will also prescribe medicine when needed.

You can help to keep your airways clear if you have cystic fibrosis in a number of ways:

Your provider may prescribe these medicines, which wont cure CF, but which will help you in certain situations. They include:

You may need surgery for cystic fibrosis or one of its complications. These might include:

People with cystic fibrosis have nutritional needs that arent the same as the needs of people without CF. People with CF may need 1.5 to 2 times the number of calories as people without CF. You need the extra calories if you have CF because you use more energy than other people to breathe, fight lung infections and maintain your strength.

You also need more calories and fat because cystic fibrosis stops the digestive enzymes made by your pancreas from working completely. This means nutrients and fats from foods arent fully absorbed by your intestines.

Although the enzyme capsules that are taken before all meals and snacks helps digest fats, proteins and starches, a certain amount of nutrients and fats dont get absorbed. If your body doesn't absorb enough fats, then fat-soluble vitamins arent being fully absorbed either, and these vitamins are needed to protect the lungs.

Its also important to stress that people with cystic fibrosis should keep a higher than normal weight starting in early childhood. Researchers have shown that young people with CF who maintain a higher weight grow faster and taller up to puberty and again grow taller when they hit their growth spurt at puberty.

Young people with CF who started life at a lower weight did not grow as many inches, started puberty at a later age and never got that same puberty growth spurt. Reaching your full genetic potential getting as tall as possible with lungs as large as possible is another reason why higher-than-normal weight in young people with CF is so important.

Another common misbelief is that salt (sodium) is unhealthy for all people. This isnt true for children and adults with CF. People with CF lose a lot of salt in their sweat. Although theres not a set standard, healthcare providers generally tell people with CF to eat salty foods. This is true especially during hot, humid weather and exercise. If you have CF, you can probably add salt to meals and snacks as desired. Ask your provider or a registered dietician about the amount of salt you need each day.

The complications of CF include the following:

You cant prevent cystic fibrosis because its an inherited condition. If you or your partner have any kind of family history, you may want to speak to a genetic counselor before you decide to have children.

There is no cure for CF and it cannot be prevented. However, new treatment methods help children who have CF live well into adulthood and have a better quality of life.

Therapies are most helpful when CF is diagnosed early, which is why newborn screening is so important. These therapies include treating infections, trying to prevent weight loss and seeing a CF specialist frequently. The addition of cystic fibrosis transmembrane conductor regulator (CFTR) modulator therapy at a young age seems to be very beneficial and may improve long-term health.

According to information from the Cystic Fibrosis Foundation Patient Registry, more than half of people born with CF between 2015 and 2019 are expected to live to age 46 or longer.

People with atypical cystic fibrosis tend to have longer life expectancies than those with classic CF.

An adult with cystic fibrosis has different needs than a child with CF. If youre a parent of a child with CF or if you're an adult with CF, you can do a lot to promote a healthy life. This includes developing and following recommendations from a treatment plan developed with your healthcare team.

Follow suggestions from your providers about eating enough, eating well and exercising wisely. Ask your provider if pulmonary rehabilitation would be a good idea for you.

Take care to prevent infections by distancing yourself from people who are ill. Practice good hand washing techniques. Get the vaccines that your providers say are needed.

Follow any recommended schedule of appointments with your provider and other members of your healthcare team. If you need help with social or emotional issues, reach out to your team and examine your options.

Decide if youd like to be part of a clinical trial. Ask your provider to point you in the right direction to be a participant.

No. Cystic fibrosis isnt contagious. Its a genetic disorder, not an infection. You cant catch it from anyone and you cant give it to anyone. If you have it, though, you need to be careful if youre exposed to infections.

Most cases of cystic fibrosis are found during the first few years of life. However, its possible to become an adult and then be diagnosed as having CF.

In the past, cystic fibrosis was considered to be a fatal illness. People who had it died in childhood. This is no longer true. Today, most children who have CF grow up to be adults with CF.

A note from Cleveland Clinic

If you have cystic fibrosis or your child has CF, you know that this genetic disorder requires lifelong management. As with many illnesses, being diagnosed early and getting treatment early usually results in the best outcomes. Work with your healthcare team, or your childs healthcare team, to find ways to stay healthy. You may have access to more resources than you realize. Research is ongoing and scientists are working toward even better outcomes.

See the rest here:

Cystic Fibrosis (CF): Causes, Symptoms, Diagnosis & Treatment