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Better Treatment Means Longer, More Normal Lives
Cystic fibrosis is a life-threatening rare disease that affects approximately 30,000 people in the US. Since the 1950s, when patients with this condition rarely lived past the age of 5 or 6, life expectancy and quality have improved dramatically. Today, most people with cystic fibrosis live into their 40s. However, there is still no cure for this disease.
Pfizer has been partnering with the Cystic Fibrosis Foundation on new treatments, including cystic fibrosis transmembrane conductance regulator (CFTR) modulators that attack the genetic defect that causes this disease. Gene therapy offers hope for new cures in the future.
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Disease Education Information
What Is Cystic Fibrosis?
In people with cystic fibrosis, a defective gene causes mucus to accumulate in the lungs, pancreas, and other vital organs. In the lungs, this mucus interferes with normal breathing and provides an environment where bacteria can thrive, which results in increasingly frequent lung infections. Over time, these infections cause the lungs to fail.
In the pancreas, mucus prevents digestion and the assimilation of nutrients, resulting in malnutrition. In the liver, the mucus blocks the bile duct. The disease can also prevent men from being able to father children.
Who Gets Cystic Fibrosis and How?
Cystic fibrosis is caused by a genetic mutation. People with the condition have inherited one copy of the defective gene from each parent. Those who have only one copy are carriers who do not have the disease, but can pass it on to their children. In addition:
- About 30,000 people in the US, and 70,000 worldwide, now live with cystic fibrosis
- Approximately 1,000 new cases are diagnosed each year
- More than 75% of people with cystic fibrosis are diagnosed by the age of 2
- Nearly half of the patients with the condition are age 18 or older
Each time that two cystic fibrosis carriers have a child, the chances are:
- 25% that their child will have the disease
- 50% that the child will be a carrier but will not have the condition
- 25% that the child will not be a carrier and will not have the disease
What Are the Symptoms of Cystic Fibrosis?
People with the condition can have a variety of symptoms, including:
- Salty skin
- Persistent cough, which may be accompanied by phlegm
- Frequent episodes of pneumonia, bronchitis, and other lung infections
- Shortness of breath
- Failure to grow or gain weight despite a good appetite
- Frequent greasy, bulky stools or difficulty with bowel movements
- Male infertility
Patients with cystic fibrosis are at a greater risk of getting lung infections. Minimizing their exposure to germs of all kinds must be a top priority.
How Is Cystic Fibrosis Diagnosed?
In the US today, all 50 states screen newborns for cystic fibrosis using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly. If a genetic or blood test suggests that the person has cystic fibrosis, physicians will typically use a sweat test, which measures the amount of salt in the person's sweat, to confirm the diagnosis. The test is usually performed twice, and high salt levels confirm a diagnosis of cystic fibrosis.
For this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. Sweat is collected on a pad and analyzed.
Genetic tests may also be used to determine what type of genetic mutation is causing the condition.
Additional tests include:
- Chest x-rays, which can show inflammation or scarring
- Sinus x-rays, which would indicate signs of sinus infection, a complication of cystic fibrosis
- Lung function tests, which measure air intake and outflow and how well the lungs are delivering oxygen to the blood
- Sputum culture, in which a sample of spit is analyzed for bacteria. The presence of Pseudomonas may suggest more advanced cystic fibrosis in need of aggressive treatment
- Prenatal genetic testing, via amniocentesis and chorionic villus sampling, to show whether a fetus has cystic fibrosis
Can Cystic Fibrosis Be Treated?
The type and severity of symptoms may differ widely from person to person. Therefore, there is no such thing as a "typical" treatment plan. Personalized health plans are essential and should require input from healthcare providers.
Each day, people with cystic fibrosis complete a combination of the following therapies:
- Airway clearance to help loosen and remove mucus from the lungs. Some airway clearance techniques require help from family members, friends, or respiratory therapists. Many people with cystic fibrosis use an inflatable vest that vibrates at a high frequency to loosen and thin mucus
- Inhaled medicines such as liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and additional treatments designed to help keep the airways clear
- Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. People with cystic fibrosis also usually take multivitamins
In addition, drugs have been developed that target the basic genetic defect that causes cystic fibrosis, which has been traced to a defective protein known as CFTR. These medications, known as CFTR modulators, represent a breakthrough in the treatment of the disease. Gene therapy could also offer potential cures in the future.