Cystic fibrosis is a serious genetic disease that can make breathing difficult. Better treatments and ongoing research are helping improve CF patients’ lives.
Cystic fibrosis (CF) is a progressive, genetic disease affecting about 30,000 people in the U.S. CF is a serious condition that can shorten lives because it impairs the ability to breathe. So far, there is no cure.
However, any discussion about cystic fibrosis should note remarkable progress has been made in screening for, and treating, CF. Ongoing research has produced new therapies for some CF patients. and more effective treatments may be on the horizon.
It was a much different situation in the l950s, when a child with CF almost never survived long enough to attend elementary school, according to the Cystic Fibrosis Foundation. Today, developments in specialized CF care have improved not only the quality of life for many people with cystic fibrosis but also the length of their lives– so that many can attend college and pursue careers.
The disease still cuts too many lives short, however. That’s why understanding what cystic fibrosis is, the importance of genetic testing, and why CF patients need consistent and adequate treatment, is crucial.
Understanding the cause of cystic fibrosis
Cystic fibrosis is the result of a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which affects a protein in the body. The resulting faulty protein causes problems in cells, tissues, and glands because it disrupts the body’s ability to move chloride to the cell surface. Without chloride to attract water to the surface of cells, mucus in various organs becomes thick and sticky.
Normally, mucus is slippery and protects the linings of your airways, digestive tract, and other organs and tissues. But the extremely thick, sticky mucus, a hallmark of CF, can build up and lead to blockages, inflammation, and infections in the affected organs, especially the lungs and pancreas.
Cystic fibrosis symptoms can vary
Although some people with cystic fibrosis have few symptoms, many experience severe and sometimes life-threatening complications, the National Heart, Lung and Blood Institute (NHLBI) explains.
Symptoms of cystic fibrosis depend on which organs the disease affects, and how severely. Respiratory problems from thick mucus are the most serious and frequent complication, according to the NHLBI. Minimizing the risk of infection is a top priority for cystic fibrosis patients because, when mucus clogs the airways, germs are trapped, leading to infections, inflammation, respiratory distress, and other serious complications. Frequent lung infections, including pneumonia or bronchitis, are common with cystic fibrosis.
People with CF can also have difficulty absorbing nutrients from food and may need extra help maintaining good nutrition. If not adequately treated, the nutritional deficiencies can delay or stunt growth in children with the disease.
Other symptoms of cystic fibrosis can include:
- A persistent cough, at times with phlegm
- Very salty-tasting skin
- Frequent greasy, bulky stools or difficulty having bowel movements
- Shortness of breath or asthma-like wheezing
- Male infertility
What is cystic fibrosis treatment ?
People with cystic fibrosis are living longer and experiencing more fulfilling lives because of advances in CF treatment options and specialized, individualized care. Whether a person with cystic fibrosis is a young child or an adult, however, CV patients must follow a regular treatment routine that involves clearing airways, taking appropriate medications, staying as fit as possible, and following all prescribed nutritional therapies.
Airway clearance techniques (ACTs) loosen thick, sticky mucus so it can be cleared from lungs. Clapping or vibration ACTs loosen mucus from airway walls and are often useful for CF patients of all ages. Parents and caretakers help toddlers and children with ACTs, and teens and adults are taught self-help techniques involving coughing or huffing. People with cystic fibrosis work with a respiratory therapist, doctor, or other member of their healthcare team to learn the best ACTs for them to perform daily.
ACTs are often used with inhaled bronchodilators (which widen airways), medications to thin and move mucus so it can be coughed out, and antibiotics. Patients typically take these medications through a nebulizer. In order for antibiotics to reach as deeply as possible into airways, they are inhaled after airway clearance is finished and lungs have been cleared as much as possible.
While researchers continue to search for more treatments and a cure for cystic fibrosis, progress made in recent years has led to new medications for some CF patients. Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies can help correct the malfunctioning protein made by the CFTR gene.
Because different mutations cause different defects in the protein, however, the CFTR modulators developed so far only treat people with one of four specific cystic fibrosis mutations. But there’s good news: More potential CFTR modulators are being developed to hopefully treat other CF mutations, according to the Cystic Fibrosis Foundation.
Lung transplants are a possibility for some people with cystic fibrosis. Although lung transplantation can extend life, it involves an extensive evaluation and often a lengthy wait. Lung transplant recipients also must be strongly committed to a healthy lifestyle to help protect their new lungs.
Genetic counseling and testing for cystic fibrosis
If a person inherits one copy of the mutation containing CFTR gene and a normal copy, they will not develop cystic fibrosis. They will be a carrier of the disease, however, and they may pass on the copy of the defective gene to their children.
In all, there are about 10 million carriers of a single mutated CFTR gene in the U.S. If two of these people have a child, there’s a one in four chance their offspring will have cystic fibrosis. There’s a one in two chance their child will not have the disease but will carry the defective gene. There’s also a one in four chance an offspring will not have CF. If a woman is expecting and concerned about her child having CF, prenatal testing is available.
While the decisions to find out if you are a CF carrier is a personal one, it makes sense to talk to your doctor about the possibility of genetic testing before you decide to have children.
In fact, all couples who are considering having a child should be offered testing (conducted with a small sample of blood, saliva, or tissue from the inside of your cheek) to find out if they are CF carriers, according to the American College of Obstetricians and Gynecologists.
Newborn screening for cystic fibrosis is conducted on most babies during the first few days after birth. By diagnosing the disease early, CF specialists can help parents learn ways to keep their child as healthy as possible and delay or prevent serious, lifelong health problems related to cystic fibrosis.
May 20, 2021
Janet O’Dell, RN