What causes it?
You’re at a prenatal visit for your first child, and the doctor mentions that she’s concerned about the baby having cystic fibrosis. The doctor asks if you or your husband have any family history of the disease. You tell her not that you’re aware of. She mentions doing further testing. What is cystic fibrosis? How is it treated? Can it be prevented?
Cystic fibrosis is an inherited disorder caused by a genetic mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The defect results in changes in a protein that regulates the movement of salt in and out of cells. There are many different types of alterations, which are associated with the severity of the condition. The changes cause bodily secretions to become sticky and thick instead of acting as natural lubricants. The two main areas affected by this are the lungs and digestive system. The mucus clogs the tubes that carry air in and out of your lungs. It also blocks the tubes that carry digestive enzymes from your pancreas to your small intestines, which means your body cannot absorb the nutrients in the food you eat.
Symptoms of cystic fibrosis vary depending on the severity of the disease. Respiratory symptoms include a persistent cough that produces thick mucus (sputum), wheezing, exercise intolerance, repeated lung infections, inflamed nasal passages/stuffy nose, and recurrent sinusitis. Digestive symptoms are foul-smelling/greasy stools, poor weight gain/growth, intestinal blockage (particularly in newborns—meconium ileus), chronic/severe constipation, which can eventually cause part of the rectum to protrude outside the anus (rectal prolapse). Another sign of cystic fibrosis is higher than normal levels of salt in the person’s sweat. Some individuals don’t experience symptoms until they’re a teenager or adult. If this is the case, the disease is milder, and symptoms usually are pancreatitis, infertility, and recurring pneumonia.
Since cystic fibrosis is genetically linked, it does run in families. So, if you have a family history of the condition, your doctor will recommend genetic testing before having children to determine your risk level of having a child with it. Due to modern screening processes, most newborns can be diagnosed within the first few months of life before symptoms develop. This allows treatment to begin immediately, reducing the chances of complications.
Given the wide range of symptoms, complications also vary. Respiratory complications include bronchiectasis (damaged airways), chronic infections, nasal polyps, coughing up blood (hemoptysis), pneumothorax, respiratory failure, and acute exacerbation of symptoms. Digestive complications are nutritional deficiencies (resulting in delayed growth or weight loss), diabetes, fatty liver disease, jaundice, cirrhosis, gallstones, intestinal blockage, and distal intestinal obstruction syndrome (DIOS). Since the reproductive system also uses “mucus,” cystic fibrosis can cause infertility in men and reduced fertility in women. Other conditions individuals with the disorder are at increased risk for are osteoporosis, electrolyte imbalances/dehydration, and mental health problems.
There’s no cure for cystic fibrosis, but early, aggressive intervention can lessen symptoms, decrease complications, and enhance the quality of life. Medications are often used to accomplish these goals. Some examples are antibiotics, anti-inflammatories, mucus-thinning agents, inhalers, oral pancreatic enzymes, stool softeners, acid-reducers, and specific drugs for diabetes or liver disease. A new combination of drugs recently approved by the Food and Drug Administration (FDA) is cystic fibrosis transmembrane conductance regulator (CTFR) modulators, which are specifically designed to increase the function of the CTFR protein.
Besides medications, you might need to use airway clearance techniques (or chest physical therapy—CPT). These can help loosen thick mucus in the lungs, which makes it easier to cough up. A common way to do this is to cup your hands and gently strike the front and back of the person’s chest. Mechanical devices, such as a vibrating vest, can also be used. Other airway management techniques include oxygen therapy, nasal/sinus surgery, and noninvasive ventilation. In severe cases, the person may need a lung transplant. It’s important to note that cystic fibrosis will not occur in the transplanted lungs, but the individual will still be prone to other complications.
For digestive issues, you’ll need to pay attention to your nutrition and fluid intake to make sure that you’re receiving enough calories. You might need to take pancreatic enzymes with every meal/snack, eat extra fiber, consume special fat-soluble vitamins, ingest supplemental high-calorie products, drink large amounts of water, and add salt to your diet (especially in hot weather or before exercising). Some individuals need to have a feeding tube inserted either temporarily or permanently to ensure they’re receiving enough nutrition. If you develop an intestinal blockage, it’ll need to be surgically removed. For individuals with liver damage, they might need a liver transplant.
There are several other considerations for individuals with cystic fibrosis. One is staying up to date on vaccinations because they’re more likely to have complications if they get sick. On this note, the individual and everyone around them must practice good hand hygiene by washing them frequently and thoroughly to prevent the spread of germs. Exercising regularly helps loosen up mucus and strengthen your heart. Don’t smoke or be around those who smoke. It’s helpful to join a support group or seek professional help since coping with the illness and treatment can be overwhelming. In addition, spending time with family and friends can reduce stress and anxiety.
Unfortunately, there isn’t a way to prevent cystic fibrosis from occurring. The best thing to do is to get a diagnosis early so that treatment can be started. By doing this, it’ll help prevent complications. Another aspect of this is monitoring your condition and managing it to the best of your ability.
Cystic fibrosis can be an overwhelming condition to deal with. However, it can be controlled so you can live the best life possible. If you have any questions or concerns about cystic fibrosis, please speak with your doctor. If you would like more information, please visit CF Foundation’s About Cystic Fibrosis page at https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/