Cystic fibrosis (CF) is a progressive, genetic disease that affects roughly one in 5,000 people born in the United States. It primarily affects the lungs and digestive system.
People with CF experience chronic lung infections and inflammation, which cause progressive damage to their lungs and shorten their lifespan.
In the 1940s, most babies born with CF died in infancy. With advances in treatment, people with CF now live healthier and longer lives than even just a few decades ago.
Babies born with CF today can expect to live into their 50s and 60s. Continuing therapeutic advances are expected to further improve their quality of life and extend their lifespan.
Life Expectancy With Cystic Fibrosis
Tremendous advances in CF treatments, such as improved methods for clearing the lungs of mucus, antibiotics, and nutritional supplements, have greatly extended the lifespan for people living with CF. Even as recently as the 1980s, few people with CF survived to adulthood.
Today, people living with CF can expect to live into their 40s. Of those already over 30, half are expected to live into their early 50s.
The outlook is even better for babies born with CF today. Babies born with CF in the last five years have a median survival age of 48—meaning half are expected to live to age 48 years or older—and this figure is likely an underestimate. It does not include the impact of recent advances in treatment such as CFTR modulators (drugs that target the CFTR protein) or future advances.
If treatments continue to improve at their current pace, at least half the babies born with CF today will live into their 50s and 60s.
Factors That Influence Life Expectancy
The above statistics are the expected lifespan for a population, not for an individual. They are also based on people who were born decades ago, when many therapies currently in use were unavailable.
A given person’s life expectancy may be higher or lower than these numbers, depending on their overall health, specific CF mutations, and responses to treatment, as well as other factors.
Men with CF have a median survival age that is two to six years greater than women with CF. Why men with CF tend to survive longer than women is not fully understood.
One theory is that estrogen, a hormone women have in higher amounts starting in puberty, plays a role. Estrogen worsens mucus dehydration in the lungs and impairs the immune system’s ability to clear common lung infections like Pseudomonas aeruginosa. Women with CF may also experience higher levels of lung inflammation.
Type of Mutation
Researchers have identified over 1,700 different mutations in the CFTR gene that lead to cystic fibrosis. Despite this diversity, over 80% of people with CF carry the F508del mutation, and 40% carry two copies. The F508del mutation causes the CFTR protein to fold incorrectly.
People with a single copy of the F508del mutation have a higher median survival age than those who carry two copies. A study in the United Kingdom found that women with a single copy had a median survival age of 51; men with a single copy had a median survival age of 57.
Among those with two copies of F508del, women had a median survival age of 41, and men had a median survival age of 46. For men and women with two copies who were 30 years or older, the median survival age rose to 52 and 49, respectively.
Several treatments that target specific mutations are now available, and many more are in various phases of clinical testing. These therapies are likely to extend the lifespan of people with those specific mutations.
Cystic fibrosis is most common in people of European ancestry, and less common in those of Asian, African, or Hispanic ancestry. However, Hispanics living in the United States have a lower median survival age than do people of European ancestry.
Lung infections worsen lung function in CF and contribute to early mortality. Common respiratory infections—such as those caused by Pseudomonas aeruginosa and Burkholderia cepacia—can cause severe lung damage in people with CF.
An individual’s lung function, as assessed by their mean baseline forced expiratory volume in one second (FEV%), is an important predictor of survival and their need for a lung transplant.
Health problems arising from cystic fibrosis, such as poor nutritional status, liver failure, and diabetes, can shorten a person’s lifespan.
Continuing Research and Potential Treatments
Therapies developed over the past several decades—such as improved airway clearance methods, mucus thinners, inhaled antibiotics, and digestive enzyme supplements—have transformed CF from a deadly disease that killed most sufferers in infancy to a chronic condition.
Even just as recently as the 1980s, most children with CF never made it to adulthood, whereas babies with CF born today have a high likelihood of living into their 50s and 60s.
While traditional therapies have focused on treating symptoms, like clearing mucus and improving nutrition absorption, many newer therapies instead attempt to address the underlying biological problem by correcting the defective CFTR gene or its protein.
Because they address the underlying biological problem, these new approaches have the potential to transform the lives of people with CF.
CFTR Protein-Targeted Therapies
The CFTR protein is a tunnel-shaped protein with a gate that normally allows chloride ions to pass to the cell surface. CFTR protein-targeting therapies, sometimes called modulators, help fix flaws in the CFTR protein. They come in three basic types:
- Potentiators: These drugs aim to keep the gate in the open position, allowing more chloride to pass through the CFTR. Kalydeco (ivacaftor), designed for people with gating mutations, is an example of a potentiator.
- Correctors: These drugs help correct the 3-D shape of the CFTR protein and facilitate its movement to the cell surface. Elexacaftor and tezacaftor are both correctors.
- Amplifiers: These drugs aim to increase the amount of CFTR protein produced. Many amplifiers are currently being tested, but as yet none have received approval.
These drugs are often given in combination, such as the recently approved Trikafta (elexacaftor/tezacaftor/ivacaftor). Because these drugs target specific flaws in the CFTR protein, they work only for people with specific CFTR gene mutations.
These drugs, which are still in various phases of development and testing, aim to decrease expression of the ENaC (epithelial sodium channel) protein, which transports sodium into the cell. ENaC is overexpressed in CF, and its excess movement of sodium into lung cells worsens mucus dehydration.
Gene and mRNA-Based Therapies
These therapies aim to correct the underlying genetic defect either by directly altering the DNA or by altering the mRNA transcripts that code for the CFTR protein. Although incredibly promising, these therapies are still in various phases of testing and development.
Maintaining Quality of Life
Living with cystic fibrosis requires hours of daily management and can affect a person’s quality of life, stress level, and mood.
Spending time with friends and family, finding a cystic fibrosis support group, and having a supportive and trusted care team can help those with cystic fibrosis live happy, fulfilling lives.
A Word From Get Meds Info
Cystic fibrosis is a serious, life-threatening disease that requires hours of daily management. Fortunately, advances in treatment over the past several decades have greatly increased the expected lifespan for people with cystic fibrosis.
Children born with cystic fibrosis can expect to live into their 50s, and further therapeutic advances that tackle the underlying disease biology promise to improve their quality of life and further extend their lifespans.
Frequently Asked Questions
What are the long-term effects of cystic fibrosis?
Cystic fibrosis increases susceptibility to lung infections. Chronic lung infections and inflammation cause a progressive decline in lung function and, eventually, respiratory failure. Cystic fibrosis also affects the digestive system. It impairs the pancreas’s ability to secrete digestive enzymes and can cause nutritional deficiencies, slow growth, gallstones, cystic fibrosis-related diabetes, and liver failure. Cystic fibrosis impairs fertility. Most men with cystic fibrosis are infertile, but can conceive with assisted reproductive technology. Women with cystic fibrosis can have children, but may have decreased fertility.
Is cystic fibrosis always fatal?
Cystic fibrosis is a serious, life-threatening disease that significantly shortens a person’s lifespan. Fortunately, with advances in treatment, many people with CF are now living into their 40s and 50s, and babies born with CF today can expect to live into their 50s and 60s.
What is end-stage cystic fibrosis?
End-stage cystic fibrosis involves severe lung disease, characterized by cysts (fluid-filled sacs), abscesses (pockets of pus), and fibrosis (stiffening) of the lungs and airways. People with end-stage disease need oxygen support to help them breathe and often experience chest pain, loss of appetite, coughing, and anxiety. Lung transplantation can improve the chances of survival for people with end-stage disease.