Cystic fibrosis is a life-threatening disease that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections that leads to lung damage.
Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help us grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with capsules they take with their meals and snacks to help digest the food and get the proper nutrition.
Cystic fibrosis is a genetic disease. That means people inherit it from their parents through genes (or DNA), which also determine a lot of other characteristics including height, hair color and eye color. Genes, found in the nucleus of all the body's cells, control cell function by serving as the blueprint for the production of proteins.
The defective gene that is responsible for causing cystic fibrosis is on chromosome 7. To have cystic fibrosis, a person must inherit two copies of the defective CF gene—one copy from each parent. If both parents are carriers of the CF gene (i.e., they each have one copy of the defective gene), their child will have a 25% chance of inheriting both defective copies and having cystic fibrosis, a 50% chance of inheriting one defective copy and being a carrier, and a 25% chance of not having CF or carrying the gene.
Approximately 30,000 people in the United States have cystic fibrosis. An additional ten million more—or about one in every 31 Americans—are carriers of the defective CF gene, but do not have the disease. The disease is most common in Caucasians, but it can affect all races.
The severity of cystic fibrosis symptoms is different from person to person. The most common symptoms are:
Sometimes people are told that they have asthma or chronic bronchitis when they really have cystic fibrosis. New research shows that the severity of CF symptoms is partly based on the types of CF gene mutations (defects). Scientists have found more than 1,500 mutations of the CF gene.
Most people are diagnosed with CF at birth or before the age of 2. A doctor who sees the symptoms will order either a sweat test or a genetic test to confirm the diagnosis.
A sweat test is the most common test used to diagnose cystic fibrosis. A small electrode is placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride—a score of more than 60 mmol/L (a measure of concentration)—means that the person has cystic fibrosis. Scores between 40 mmol/L and 60 mmol/L are considered to be on the borderline and need to be looked at on a case-by-case basis. Scores of less than 40 mmol/L are considered negative for CF. The best place to receive a reliable sweat test is at a Cystic Fibrosis Foundation-accredited care center.
In a genetic test, a blood sample or cells from the inside of the cheek is taken and sent to a laboratory to see if any of the various mutations of the CF gene are found. A genetic test is often used if the results from a sweat test are unclear.
Scientists have many different ideas about what goes wrong in the lungs of a person with cystic fibrosis, but it all begins with defective CF genes. Normally, the healthy CF gene makes a protein—known as CFTR (Cystic Fibrosis conductance Transmembrane Regulator)—that is found in the cells that line various organs, like the lungs and the pancreas. This protein controls the movement of electrically charged particles, like chloride and sodium (components of salt) in and out of these cells. When the protein is defective, as in cystic fibrosis, the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of germs becomes very thick and difficult to move. And because it is so hard to cough out, this mucus will clog the airways and lead to infections that damage lungs.
Currently, there is no cure for cystic fibrosis. However, specialized medical care, aggressive drug treatments, and therapies, along with proper CF nutrition, can lengthen and improve the quality of life for those with CF.
The best way for people with cystic fibrosis to fight their disease is to work with their medical caregivers at a CF Foundation-accredited care center. The care center partners with people who have CF to help keep them in the best health possible.
Because the severity of CF differs widely from person to person, and CF lung infections flare up from time to time, there may not be a "typical" day. However, each day most people with CF:
There is no way to accurately predict how long people with cystic fibrosis will live, as many different factors may affect a person's health. Severity of disease and time of diagnosis are two such factors. Many people have a mild case of CF, while others can have moderate or severe cases. In addition, some adults with cystic fibrosis have only recently begun to use new treatments, while an infant diagnosed at birth will have the advantages of starting specialized treatments that were not available even a decade ago.
Using data from the CF Foundation Patient Registry, which is gathered from patients treated at CF Foundation-accredited care centers, we do know that more than 40 percent of all people with CF in this country are 18 years or older. In addition, we have calculated the predicted median age of survival. This number is based on a statistical method of using life table analyses developed by insurance companies to calculate trends in survival.
In 2005, the predicted median age of survival rose to 36.5 years, up from 32 in 2000. The predicted median age of survival is the age by which half of the current CF Patient Registry population would be expected to survive, given the ages of the patients in the registry and the distribution of deaths in 2005.
The steady rise of the median predicted age of survival suggests how improvements in treatment are advancing the lives for those with CF. In 1955, children with CF were not expected to live even to first grade. Today, thanks to continued Foundation-supported research and specialized care, an increasing number of people with cystic fibrosis are living into adulthood and leading healthier lives that include careers, marriage, and families of their own.
The best treatments and therapies for cystic fibrosis varies from person to person. CF medical caregivers at a CF Foundation-accredited care center will work closely with the person with CF to create an individualized plan as to what drugs and therapies are needed.
Since cystic fibrosis affects the lungs of most patients, a large part of the medical treatment is to clear mucus from the airways by using different airway clearance techniques. These techniques use vibrations to help loosen the mucus in the lungs so it can be coughed out. For more information, read Airway Clearance Techniques.
There are several medications that treat lung infections and can help people with cystic fibrosis breathe better. They are:
Because CF is a complex disease that affects so many parts of the body, proper care requires specialized knowledge. The best place to get that care is at one of the more than 115 nationwide CF Foundation-accredited care center.
Each center must meet strict guidelines to get the Foundation's "stamp of approval" every year. Care center staff includes a whole group of specialists, including doctors, nurses, respiratory or physical therapists, dietitians and social workers. This talented group works with each individual who has CF to meet that person's specific needs and to keep them as healthy as possible.
The latest potential treatments for CF are being tested in clinical trials at many CF Foundation-accredited care centers. Patients can help by volunteering to participate in a clinical trial that will help to advance research for a cure. To find a care enter nearby, call (800) FIGHT CF.
No. A lung transplant will not cure CF because the defective genes that cause the disease are in all of the cells in the body, not just in the lungs. At this time, scientists are not sure how to "fix" genes permanently (see gene therapy). While a transplant does give a person with CF a new set of lungs, the rest of the cells in the body still have CF and may already be damaged by the disease. Further, organ rejection drugs can cause other health problems.
When scientists found the most common gene that causes CF in 1989, there was much excitement about the possibility of developing gene therapy. Gene therapy is the process by which healthy genes are delivered into cells and tissues of the body using such "vehicles" as a specially engineered virus. Researchers need to add enough healthy genes to override the effects of the defective ones. If it is successfully done, gene therapy has the potential of curing cystic fibrosis as it addresses the root cause of the disease (the faulty CF gene) and not merely the symptoms.
Scientists are currently exploring the use of gene therapy for many diseases but have had little success. That is because it has been very hard to find a safe and reliable way to deliver healthy genes into the cells and tissues of the body. For this reason, we cannot predict when and if gene therapy will become available as a treatment. Gene therapy, like any other medical research, must be safe and effective before it can be used as a treatment. Research is ongoing in both the clinic and the laboratory.
Once researchers have shown that a new drug is safe and potentially effective in the laboratory, a study is designed to evaluate it in people. This study is known as a clinical trial. If the Food and Drug Administration approves the clinical trial, the study can begin in people.
Researchers find volunteers with CF who fit the criteria for the specific clinical trial. Some trials, for instance, may be targeted only at children or only at people with digestive problems. Other trials may only be for people with CF whose lung function is within a certain range. Some clinical trials actually begin with volunteers who are healthy and do not have CF at all. Researchers observe how the drug behaves in the body under highly controlled and monitored circumstances, and whether the treatment is helpful to people with CF.
With more than 25 drugs in clinical trials and several in the laboratory, researchers will need more people than ever to volunteer for clinical trials. The best way to make sure that this important research continues for people with CF is to contact a care center near them to get involved.
The Cystic Fibrosis Foundation works as fast as possible and funds some of the best and brightest minds in science to find a cure. Because CF researchers are blazing new trails in drug development and gene therapy, experts have no way of saying for sure when a cure will be available. Certainly many children today have the chance to live long and full lives. In fact, for the first time in the history of the disease, many people with CF are now living into adulthood—more than 40 percent of people with CF in the United States are age 18 or older.
The "aging" of the cystic fibrosis community is largely due to the increase in innovative new treatments and specialized medical care. But a better quality of life and partially increased length of life are simply not enough. That is why the Cystic Fibrosis Foundation is working tirelessly to expand and strengthen the drug development pipeline of potentially life-saving new therapies while, at the same time, supporting a vital care center network.
Cystic fibrosis research is definitely a team effort. Scientists across the world are working to understand and better combat this complex disease, with the hope that one or more of the many approaches to therapies will lead to a cure.
People can help advance the research in several ways:
This article has been adapted by Novartis from content provided by the Cystic Fibrosis Foundation and is providing the article for general information purposes only. Please visit www.CFF.org for the complete and most current version of this article.
