Cystic Fibrosis

Symptoms, Doctors, Treatments, Advances & More

Cystic fibrosis (CF) is an inherited, slowly progressive disease that affects the cells in glands that produce mucus, sweat, and digestive fluids, by changing the electrolyte system in ways that make cells absorb too much sodium and water, causing the cells to produce thick mucus that clogs and damages several organs, including the lungs, liver, pancreas, intestines, urinary tract, and reproductive organs. As these organs become damaged, individuals with cystic fibrosis usually will develop severe, chronic lung disease and digestive problems, among other complications, such as malnutrition. Cystic fibrosis is usually diagnosed during infancy due to newborn screening.

There are several alternative names for cystic fibrosis, including CF, fibrocystic disease, pancreatic fibrosis, and muscoviscidosis.

Cystic fibrosis is a genetic (inherited autosomal recessive) disorder caused by a gene defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which alters the protein that controls the flow of sodium through cells, causing thick, sticky mucus build-up in respiratory, digestive, and reproductive systems, as well as increased sweating of salt. Since the CFTR gene can carry many defects, the particular defects affect the severity of the cystic fibrosis. Cystic fibrosis is most common in individuals who are Caucasian of Northern European ancestry and is the most common recessive genetic disorder in this population. To a much lesser degree (less than 15%), cystic fibrosis may also occur in African American and Asian populations.

Symptoms of cystic fibrosis depend on the individual and the severity of the disease and can improve or worsen over time. Some individuals with cystic fibrosis may not experience symptoms until they are teenagers or adults. Some symptoms of cystic fibrosis can be mild or life-threatening. The most common symptoms of cystic fibrosis are those affecting the respiratory system and digestive tract. Respiratory symptoms of cystic fibrosis may include chronic cough, with the production of thick mucus, coughing up blood (hemoptysis), nasal stuffiness, recurrent sinusitis, wheezing, shortness of breath (dyspnea), rapid breathing (tachypnea), recurrent lung infections, or lung collapse (pneumothorax), leading to chronic lung disease or permanently-damaged lungs. Once the lungs are severely damaged, life-threatening respiratory failure or heart damage (cor pulmonale) may occur. Digestive system symptoms of cystic fibrosis may include recurrent abdominal pain, abdominal bloating, gastroesophageal reflux (GERD), pancreatic obstruction, with blockage of digestive enzymes, leading to foul-smelling, greasy stools (steatorrhea), diarrhea, vomiting, poor weight gain, malabsorption, malnutrition, vitamin insufficiency (Vitamins A, D, E, and K), and growth retardation, a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM), intestinal obstruction, especially in infants (meconium ileus), and chronic or severe constipation, causing rectal prolapse. Obstruction from mucus build-up in the bile ducts leading to the liver may cause jaundice (yellowing of the skin and eyes), gallstones, and inflammation that can lead to life-threatening liver scarring (cirrhosis), vomiting up blood, or high blood pressure in the major vein that carries blood to the liver (portal hypertension). In both males and females with cystic fibrosis, reproductive tract disorders may be present, including delayed sexual development and infertility. Individuals with cystic fibrosis also have higher levels of sodium (salt) in their sweat that can be tasted on the skin. Salt imbalances may lead to abnormal heart rhythms. A rounding or flattening (clubbing) of the tips of fingers and toes is characteristic of cystic fibrosis.

Since there is no cure for cystic fibrosis, treatment is focused on easing symptoms (removing excess mucus from lungs), slowing the progression of the disease, and preventing and treating complications, such as preventing and controlling lung infections and intestinal obstruction, and providing adequate nutrition. Medications used to treat cystic fibrosis include those that target gene mutations, antibiotics, anti-inflammatory drugs (to lessen swelling), mucus-thinning drugs (hypertonic saline), bronchodilators (to keep airways open), oral pancreatic enzymes (to improve nutrient absorption), stool softeners, acid-reduction medications, and if necessary, drugs for diabetes or liver disease. For some patients with cystic fibrosis, surgery may become necessary, such as nasal and sinus surgery, bowel surgery, or, in severe cases, lung or liver transplantation. Other therapies may include oxygen therapy, noninvasive ventilation, and feeding tube placement. Airway clearance – Patients with cystic fibrosis will be taught airway clearance techniques to be used several times a day, known as chest physical therapy (CPT), which include cupping with hands on front and back of chest, breathing and coughing techniques, and the use of machines that pulse air into the lungs (vibrating vest). Long-term pulmonary rehabilitation – Pulmonary rehabilitation for cystic fibrosis includes exercise, nutritional counseling, supportive counseling, and cystic fibrosis education. Antibiotics – Inhaled antibiotics may be used to treat lung infections in patients with cystic fibrosis, such as tobramycin (TOBI) and aztreonam (Cayston). Mucus-thinning medication – The medication dornase alfa (Pulmozyme) may be used to thin the thick mucus associated with cystic fibrosis. Gene-targeted therapy – Patients with cystic fibrosis who have certain gene mutations may be prescribed cystic fibrosis transmembrane conductance regulator (CTFR) modulators to improve lung function, weight, and to reduce sodium in sweat and include elexacaftor, ivacaftor (Kalydeco), and tezacaftor (Trikafta), the combination of tezacaftor and invacaftor (Symdeko), and combination lumacaftor and ivacaftor (Orkambi). Surgery – Surgery for patients with cystic fibrosis may be necessary to remove nasal polyps, to treat chronic sinusitis, or to repair an intestinal obstruction. In some select patients with severe lung damage due to cystic fibrosis, lung transplantation may be an option. For patients with cystic-fibrosis liver disease, such as scarring of the liver (cirrhosis), liver transplantation may be an option and can be combined with lung or pancreas transplantation. Other therapies – Additional therapies for cystic fibrosis may include oxygen therapy to prevent pulmonary hypertension, noninvasive ventilation (CPAP) to assist breathing while sleeping, or the placement of a feeding tube to counteract or prevent malnutrition, vitamin therapy (Vitamins A, D, E, and K), pancreatic enzyme replacement, and diet therapy.

There are several online, local, national, and international support groups for cystic fibrosis, including the following: Cystic Fibrosis Foundation - https://www.cff.org/Get-Involved/Connect/ Cystic Life Community - https://cysticlife.org/

While there is no cure for cystic fibrosis, today patients with this disease experience a better quality of life, longer life spans, and are generally able to attend to regular daily activities, such as school and work. Cystic fibrosis is a chronic disease that can worsen over time, requiring constant management. The severity of the illness typically varies over time. Periods of worsening symptoms may require more intense medical treatment and even hospitalization. The life expectancy for cystic fibrosis depends on the individual and the severity of the disease, and many individuals with the disease now live into their 50s, with life spans continuing to increase. Severe lung damage associated with cystic fibrosis can result in death.

Complications of cystic fibrosis mainly include those affecting the respiratory, digestive, reproduction systems, as well as other organs. Respiratory system complications of cystic fibrosis include damaged airways (bronchiectasis), chronic lung infections, nasal polyps, chronic sinusitis, coughing up blood (hemoptysis), collapsed lung (pneumothorax), respiratory failure, and death. Digestive system complications of cystic fibrosis include nutritional deficiencies, failure to thrive, vitamin insufficiencies, lack of digestive enzymes, gastroesophageal reflux disease (GERD), diabetes, liver disease (gallstones, jaundice , scarring of the liver ), pancreatitis, intestinal obstruction, and distal intestinal obstruction syndrome (DIOS), which requires emergency treatment. Reproductive system complications of cystic fibrosis include infertility in men and reduced fertility in women. Other complications of cystic fibrosis include thinning of the bones (osteoporosis), electrolyte imbalances and dehydration, depression, and anxiety.

If you or your child experiences any symptoms of cystic fibrosis, such as frequent respiratory infections, salty skin, difficulty breathing, greasy, foul-smelling stools, persistent abdominal distention and discomfort, and poor weight gain, make an appointment with your doctor as soon as possible. If you have a family history of cystic fibrosis, speak with your doctor about genetic testing. If you have been diagnosed with cystic fibrosis, contact your doctor if you experience any new of worsening symptoms.

While there is no way to prevent cystic fibrosis, all states in the U.S. require newborn testing for the disease. Individuals with a family history of cystic fibrosis can have genetic testing done to find out if they are a carrier of the disease that could be passed on to their children and to determine the level of risk. If both partners have the cystic fibrosis gene, they may consider avoiding pregnancy or have early prenatal testing.