Cystic fibrosis is a chronic condition that causes recurrent lung infections and makes it increasingly difficult to breathe. It’s caused by a defect in the CFTR gene. The abnormality affects glands that produce mucus and perspiration. Most symptoms affect the respiratory and digestive systems.
Some people carry the defective gene, but never develop cystic fibrosis. You can only get the disease if you inherit the defective gene from both parents.
When two carriers have a child, there’s only a 25 percent chance that the child will develop cystic fibrosis. There’s a 50 percent chance the child will be a carrier, and a 25 percent chance the child will not inherit the mutation at all.
There are many different mutations of the CFTR gene, so the symptoms and severity of the disease vary from person to person.
Continue reading to learn more about who’s at risk, improved treatment options, and why people with cystic fibrosis are living longer than ever before.
In recent years, there have been advances in the treatments available for people with cystic fibrosis. Largely due to these improved treatments, the lifespan of people with cystic fibrosis has been steadily improving for the past 25 years. Only a few decades ago, most children with cystic fibrosis did not survive into adulthood.
In the United States and United Kingdom today, the average life expectancy is 35 to 40 years. Some people live well beyond that.
Life expectancy is significantly lower in certain countries, including El Salvador, India, and Bulgaria, where it’s less than 15 years.
There are a number of techniques and therapies used to treat cystic fibrosis. One important goal is to loosen mucus and to keep the airways clear. Another goal is to improve the absorption of nutrients.
Since there’s a variety of symptoms as well as severity of symptoms, treatment is different for each person. Your treatment options depend on your age, any complications, and how well you respond to certain therapies. Most likely a combination of treatments will be needed, which may include:
- exercise and physical therapy
- oral or IV nutritional supplementation
- medications to clear mucus from the lungs
- drugs to reduce acids in the stomach
- oral or inhaled antibiotics
- pancreatic enzymes
CFTR-modulators are among the newer treatments that target the genetic defect.
These days, more people with cystic fibrosis are receiving lung transplants. In the United States, 202 people with the disease had a lung transplant in 2014. While a lung transplant isn’t a cure, it can improve health and lengthen lifespan. One in six people with cystic fibrosis who are over the age of 40 have had a lung transplant.
Worldwide, 70,000 to 100,000 people have cystic fibrosis.
In the United States, about 30,000 people are living with it. Each year doctors diagnose 1,000 more cases.
It’s more common in Caucasians of northern European descent than in other ethnic groups. It occurs once in every 2,500 to 3,500 white newborns. Among African-Americans, the rate is one in 17,000 and for Asian-Americans, it’s one in 31,000.
It is estimated that about one in 31 people in the United States carries the defective gene. Most are unaware and will remain so unless a family member is diagnosed with cystic fibrosis
The disease is rare in Asia. The disease may be under-diagnosed and under-reported in some parts of the world.
Men and women are affected at about the same rate.
If you have cystic fibrosis, you lose a lot of salt through your mucus and sweat, which is why your skin can taste salty. Loss of salt can create a mineral imbalance in your blood, which can lead to:
- abnormal heart rhythms
- low blood pressure
The biggest problem is that it’s difficult for the lungs to remain clear of mucus. It builds up and clogs the lungs and breathing passages. In addition to making it hard to breathe, it encourages opportunistic bacterial infections to take hold.
Cystic fibrosis also affects the pancreas. The buildup of mucus there interferes with digestive enzymes, making it difficult for the body to process food and absorb vitamins and other nutrients.
Symptoms of cystic fibrosis can include:
- clubbed fingers and toes
- wheezing or shortness of breath
- sinus infections or nasal polyps
- coughing that sometimes produces phlegm or contains blood
- collapsed lung due to chronic coughing
- recurrent lung infections such as bronchitis and pneumonia
- malnutrition and vitamin deficiencies
- poor growth
- greasy, bulky stools
- infertility in men
- cystic fibrosis-related diabetes
- liver disease
Over time, as the lungs continue to deteriorate, it can lead to respiratory failure.
There’s no known cure for cystic fibrosis. It’s a disease that requires careful monitoring and lifelong treatment. Treatment for the disease requires a close partnership with your doctor and others on your healthcare team.
People who begin treatment early on tend to have a higher quality of life, as well as a longer life. In the United States, most people with cystic fibrosis are diagnosed before reaching the age of two. Most infants are now diagnosed when they’re tested shortly after they’re born.
Keeping your airways and lungs clear of mucus can take hours out of your day. There’s always a risk of serious complications, so it’s important to try to avoid germs. That also means not coming into contact with others who have cystic fibrosis. Different bacteria from your lungs can cause serious health issues for both of you.
With all these improvements in healthcare, people with cystic fibrosis are living healthier and longer lives.
Some ongoing avenues of research include gene therapy and drug regimens that can slow or halt disease progression.
In 2014, more than half the people included in the cystic fibrosis patient registry were over age 18. It was a first. Scientists and doctors are working hard to keep that positive trend going.