Cystic fibrosis is an inherited disorder that causes severe damage to the lungs and digestive system.
Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are normally thin and slippery. But in people with cystic fibrosis, a defective gene causes the secretions to become thick and sticky. Instead of acting as a lubricant, the secretions plug up tubes, ducts and passageways, especially in the lungs and pancreas.
Although cystic fibrosis requires daily care, people with the condition are able to attend school and work, and have a better quality of life than in previous decades. Improvements in screening and treatments mean most people with cystic fibrosis now live into their 20s and 30s, and some are living into their 40s and 50s.
Screening of newborns for cystic fibrosis is now performed in all 50 states. As a result, the condition can be diagnosed within the first month of life, before symptoms develop. For people born before newborn screening was performed, it's important to be aware of the signs and symptoms of cystic fibrosis.
Cystic fibrosis signs and symptoms vary, depending on the severity of the disease. Even in the same person, symptoms may worsen or improve as time passes. Some people may not experience symptoms until adolescence or adulthood.
People with cystic fibrosis have a higher than normal level of salt in their sweat. Parents often can taste the salt when they kiss their children. Most of the other signs and symptoms of cystic fibrosis affect the respiratory system or the digestive system. However, adults with cystic fibrosis are more likely to have atypical symptoms, such as pancreatitis, diabetes and infertility.
The thick and sticky mucus associated with cystic fibrosis clogs the tubes that carry air in and out of your lungs. This can cause:
The thick mucus can also block tubes that carry digestive enzymes from your pancreas to your small intestine. Without these digestive enzymes, your intestines can't fully absorb the nutrients in the food you eat. The result is often:
Frequent straining while passing stool can cause part of the rectum — the end of the large intestine — to protrude outside the anus (rectal prolapse). When this occurs in children, it may be a sign of cystic fibrosis. Parents should consult a physician knowledgeable about cystic fibrosis. Rectal prolapse in children may require surgery.
If you or your child has symptoms of cystic fibrosis — or if someone in your family has cystic fibrosis — talk with your doctor about testing for the disease.
Seek immediate medical care if you or your child has difficulty breathing.
Symptoms of cystic fibrosis tend to start in early childhood, although they can sometimes develop very soon after birth, or may not be obvious until adulthood.
Some of the main symptoms of cystic fibrosis can include:
Read more about the symptoms of cystic fibrosis.
Cystic fibrosis is caused by a faulty gene that a child inherits from both of their parents.
The faulty gene means that some cells struggle to move salt and water across the cell wall. This, along with recurrent infections, can result in a build-up of thick, sticky mucus in the body's tubes and passageways.
To be born with cystic fibrosis, a child has to inherit two copies of this faulty gene – one from each of their parents. Their parents will not usually have the condition themselves, because they will only carry one faulty gene and one that works normally.
If both parents carry the faulty gene, there's a 25% chance that each child they have will be born with cystic fibrosis.
Read more about the causes of cystic fibrosis.
Most cases of cystic fibrosis are now detected soon after birth through the newborn blood spot test.
This involves collecting a drop of blood from the baby's heel and testing it for abnormalities that could indicate cystic fibrosis.
More tests will be needed to confirm the diagnosis, such as:
These tests can also be carried out in older children and adults with symptoms of cystic fibrosis who haven't been screened previously.
If you have a family history of cystic fibrosis, you can be tested to determine if you're at risk of having a child with the condition by checking if you're a "carrier" of the faulty gene that causes it.
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 tonewborn 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.
Everyone has a gene called CTFR, which makes a protein that controls how salt and water move in and out of the body’s cells. If you have cystic fibrosis, your CTFR gene is broken. That’s because you inherited two bad copies of the gene, one from each parent. If someone has only one copy, they won't get cystic fibrosis, but they could pass the gene on to their children.
A bad CFTR gene can cause your cells to make the wrong amount of salt or water. That’s what makes your mucus too thick or your sweat too salty. It becomes a problem when your body can’t get the oxygen or nutrients it needs, or it loses them through sweat.
Scientists have found more than 1,000 different types of changes, called mutations, to the CFTR gene in people with cystic fibrosis. About 70% of people with cystic fibrosis have the most common one, called Delta F508.
The different gene mutations can make a difference in the symptoms you have. As doctors learn more about the mutations, they are looking for specific treatments for each one.
Babies can show signs of cystic fibrosis soon after birth. Some of the first ones you might notice could be:
· Your baby’s skin tastes salty when you kiss it.
· She doesn’t poop when she’s first born.
All U.S. states screen newborns for cystic fibrosis, so if your child has it, you’ll most likely find out right away. As your child gets older, his symptoms could include:
· Coughing up thick mucus
· Wheezing or shortness of breath
· Growths, called polyps, in the nose
· Bulky, oily, or foul-smelling stool
· Low bone density
· Wide, rounded fingertips and toes, called clubbing
Sometimes symptoms don’t appear until the teen or adult years. A late diagnosis may mean you have a more mild case of cystic fibrosis. Most people’s symptoms will get worse over time.
Later in life, cystic fibrosis can also cause pancreatitis, liver disease, orgallstones. Many people will get cystic fibrosis-related diabetes as they get older. The disease is similar to type 1 and type 2 diabetes, but it’s not exactly the same. People can manage it by watching their blood sugarand taking insulin, a medicine that helps the body use sugar.
It’s important to diagnose cystic fibrosis early so you can treat symptoms and avoid problems. If your child has cystic fibrosis, you may find out soon after or even before he’s born.
When your baby is born: A few hours after birth, hospital staff take a sample of your baby’s blood, usually from his foot. Sometimes scientists check it for broken CTFR genes. Other times, they look for signs that the baby’spancreas is working well.
Because there are so many different gene flaws that cause cystic fibrosis, the newborn screening test may not find the disease in everyone who has it.
If the screening test finds cystic fibrosis, that doesn’t always mean your baby has the disease. Your doctor will find out for sure by measuring how much salt is in his sweat. A high level means he has cystic fibrosis.
As your baby grows up: Doctors also use the sweat test to check older children and adults who have symptoms but weren’t diagnosed as babies. They may use other tests as well, including:
· Chest X-ray. It uses low doses of radiation to make a picture of the inside of your child’s body.
· Spirometry. Your child will breathe out as hard as he can into a tube attached to machine that records his breath.
· Lung volume measurement. Your child will sit in a glass booth and breathe in and out through a tube. The booth senses changes in pressure that tell doctors how much air he’s breathing into his lungs.
· Pulse oximetry. Doctors will clip a small sensor to your child’s fingertip to measure the amount of oxygen in his blood.
· Mucus test. Doctors look for a certain kind of bacteria that’s common in severe cystic fibrosis.
Along with testing, your doctor may also ask you questions about your child’s symptoms, including:
· Does he have trouble breathing?
· How often does he have trouble with digestion?
· Has anyone in your family been diagnosed with cystic fibrosis?
· Does he have any other medical conditions?
If your child is diagnosed with cystic fibrosis, you’ll want to find out as much about the condition as you can. You may want to ask:
· Does my child need any more tests?
· Do we need to see any other doctors?
· What kind of gene mutations caused his cystic fibrosis?
· What kind of treatments are there?
· How will those treatments make him feel?
· How can I keep him from having trouble breathing?
· How can I keep him from getting lung infections?
· How can I make sure he gets enough nutrients from his food?
· Do my other children need to get tested?
There's currently no cure for cystic fibrosis, but a number of treatments are available to help control the symptoms, prevent complications, and make the condition easier to live with.
Possible treatments include:
A lung transplant may eventually be needed if the lungs become greatly damaged.
Read more about treating cystic fibrosis.
Cystic fibrosis is a progressive condition, which means it tends to get worse over time.
Eventually the condition can be fatal if it leads to a serious infection or the lungs stop working properly.
The outlook for cystic fibrosis has improved considerably in recent years because of advancements in treatment, although most people with cystic fibrosis will have a shorter-than-average life expectancy.
There’s no cure for cystic fibrosis. But there are many treatments that ease symptoms and help people of all ages feel better, breathe easier, have fewer infections or stomach problems, and get enough nutrients.
Scientists are also making new drugs that fix problems in the faulty proteins that cause cystic fibrosis symptoms.Ivacaftor (Kalydeco) was approved by the FDA in 2012 for people ages 6 and older who have a specific gene mutation, G551D. The drug tweaks a protein in your body so water and salt can get to your lungs. Right now, scientists are testing it to see if it works in people who have the most common CTFR gene defect, Delta F508. The therapy may help doctors find more treatments for people with other types of bad genes.
In 2015, lumacaftor /ivacaftor (Orkambi)was approved to help treat children over the age of 12 who have the F508delmutation. Having two copies of this gene (one from each parent) is the leading cause of Cystic Fibrosis. Orkambi aims to treat the underlying condition and has been shown to improve lung function, reduce pulmonary exacerbations and help patients gain weight .
A lung transplant is an option for people with severe lung disease. You’ll need to have both lungs replaced, not just one. It’s major surgery, and you’ll probably need a lot of support from your family, medical team, and a counselor or support group.
First, you'll need to get on a waiting list for a donor. Your new lungs will come from someone who recently died and has the same blood type and a similar body size as yours.
You may need to stay in the hospital for 3 weeks or longer after your surgery. It could be many months before you can return to your regular lifestyle. After your transplant, you'll need to take drugs that prevent your body from rejecting the new lungs.
Scientists also are looking for new ways to treat cystic fibrosis in clinical trials. These trials test new drugs to see if they are safe and if they work. They often are a way for people to try new medicine that isn't available to everyone. Your doctor can tell you if one of these trials might be a good fit for you or your child.Whether you have cystic fibrosis or you’re caring for your child who does, it’s important to have regular checkups and follow the doctor’s treatment plan. There are also many things people with cystic fibrosis can do to stay as healthy as possible and live an active life.
Years ago, children with cystic fibrosis weren’t expected to live beyond their teen years, but today people have active lives well into adulthood.
It’s a serious condition that needs a lot of treatment, but it doesn’t have to keep people from enjoying life. Children with cystic fibrosis can go to school, play sports, and have fun with friends. Adults can go to college, work, live in their own homes, marry, have children, and travel. Cystic fibrosis can make it hard to get pregnant, but new techniques can help men and women start families.
If you or your child has cystic fibrosis, there are many places to go for information and advice. Visit the web site of the Cystic Fibrosis Foundation to learn about the disease and to find local support groups.
Web md /Health line /mayo clinic