Cystic fibrosis is a serious genetic condition that affects the lungs and digestive system. According to the Cystic Fibrosis Foundation, the defective gene responsible for the disease “causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs.” Over time, as cystic fibrosis progresses, it will limit a person’s ability to breathe.
The disease is most commonly diagnosed in infants and young children, but in some cases symptoms do not appear until adulthood. While all newborns in the United States and Canada are now screened for cystic fibrosis at birth—making diagnosis possible within the first few weeks of life—for those who were born before such testing was implemented it’s important to be aware of the common signs and symptoms, including these nine.
Cystic fibrosis is caused by a single defective gene—the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). According to WebMD, this gene “controls the flow of salt and fluids in and out of your cells.”
As a result, people with cystic fibrosis will have increased salt in their sweat, causing very salty-tasting skin. Parents of children with the disease will often taste the salt when kissing them.
Along with an increased level of salt in the sweat, the defective gene also causes people with cystic fibrosis to develop thick, sticky mucus. This mucus will build up in various parts of the body—including the lungs.
As it collects in the airways, it can make breathing more challenging. This can cause a person to cough persistently, often expelling some of the phlegm that’s responsible for the irritation.
AboutKidsHealth.ca says that normal mucus, which is thin and slippery, “keeps the lungs clean by removing dirt and germs from the lungs’ airway tubes.” But, as mentioned earlier, the sticky mucus caused by cystic fibrosis builds up in the airways, allowing bacteria to collect.
These trapped bacteria can cause cycles of inflammation and infections in the lungs, such as bronchitis or pneumonia. Over time, such infections can cause damage to the lung tissues due to how frequently they occur.
As with coughing, symptoms of wheezing and shortness of breath are common among those with cystic fibrosis due to the build up of sticky mucus in the airways. The affected individual may find these symptoms are especially pronounced while engaging in physical activities.
In some cases, these respiratory issues may persist for an extended period of time, from several days to weeks. The Mayo Clinic says this is known as an acute exacerbation and “requires treatment in the hospital.”
Despite having a good appetite, children with cystic fibrosis may struggle to gain weight. And in some cases, weight loss may also occur. As a result, they may not grow and develop at the rate they should.
AboutKidsHealth.ca says this is due to mucus blocking the ducts of the pancreas, which prevents its enzymes from reaching the small intestine. As these enzymes aid in digestion, a lack of them means food cannot be properly broken down and therefore the child will not get enough nutrition from what they eat.
As mentioned earlier, the mucus caused by cystic fibrosis blocks the ducts of the pancreas. Not only does this impair a person’s ability to absorb necessary nutrients, it prevents the intestines from fully absorbing fats and proteins.
The National Heart, Lung, and Blood Institute indicates this can cause “ongoing diarrhea or bulky, foul-smelling, greasy stools.” The source adds that intestinal blockages can also occur, particularly in newborns. These blockages may lead to gas or severe constipation, which can result in a swollen abdomen or stomach pain.
Duct blockages within the pancreas can also lead to acute or chronic pancreatitis, which the Johns Hopkins Cystic Fibrosis Center defines as “an inflammatory process that can cause severe abdominal pain, vomiting, and diarrhea.”
The source adds that pancreatitis more commonly occurs in patients with pancreatic sufficiency than those with pancreatic insufficiency, and occurs in less than 10 percent of people with cystic fibrosis.
Cystic fibrosis also impacts the reproductive systems of both men and women with the disease. According to the National Heart, Lung, and Blood Institute, men with cystic fibrosis are born without a vas deferens, “a tube that delivers sperm from the testes to the penis,” making them infertile.
Women with cystic fibrosis are capable of having children; however, they may struggle to get pregnant due to mucus blocking the cervix or other complications associated with the condition.
Mucus lodged within the body’s airways may also cause cystic fibrosis patients to feel like they constantly have a stuffy nose and congested sinuses. This build up can lead to frequent infections within the sinuses, known as sinusitis.
The Mayo Clinic adds that soft, fleshy growths inside the nose, called nasal polyps, may also occur due to its lining being inflamed and swollen on a persistent basis.