Cystic fibrosis (CF) is a life-threatening inherited disease that affects an estimated 30,000 people in the U.S. It is the most common type of chronic lung disease in children and young adults, and may result in premature death. In people with CF, a thick, sticky fluid called mucus builds up in the lungs and digestive tract. This can lead to fatal lung infections, and cause serious digestion problems. CF also may affect the sweat glands and a man’s reproductive system.

Cystic Fibrosis Causes & Risk Factors
CF is caused by a defective gene that tells the body to produce abnormally thick and sticky mucus. This mucus builds up and clogs the breathing passages of the lungs and the pancreas, which is the organ that helps to break down and absorb nutrients from food.

More than 10 million Americans carry the defective CF gene, but do not have any symptoms. That's because a person must inherit two defective CF genes, one from each parent, in order to have the disease. An estimated 3% to 10% of Caucasians have the CF gene, making CF the most common, life-threatening, inherited disorder affecting Caucasians in the U.S. It is more common among those of Northern or Central European descent.

When two carriers of the Cystic Fibrosis gene conceive:

• There is a 25% chance their child will have CF.
• There is a 50% chance the child will be a carrier of the CF gene but not have the disease.
• There is a 25% chance that the child will not be a carrier and not have CF.

Symptoms of Cystic Fibrosis

The symptoms of CF can vary from person to person because there are more than 1,000 mutations of the CF gene. Some of the most common symptoms are:

• Very salty-tasting skin
• Persistent coughing or wheezing, shortness of breath
• Frequent respiratory infections, including pneumonia
• Weight loss, or a failure to gain weight normally, even when the appetite is good
• Difficulty having a bowel movement, or frequent, abnormal bowel movements
• Clubbing (enlargement of the fingertips and toes)

Adults with CF may experience cystic fibrosis-related diabetes (CFRD) and osteoporosis. The disease also may cause problems with reproduction, since an estimated 98% of men with CF are sterile. And while many women with CF can conceive, impaired lung function and other health issues may make it hard to carry a child full term.

Diagnosing Cystic Fibrosis
About 1,000 new cases of CF are diagnosed in the U.S. each year. More than 80 percent of patients are diagnosed by age three, but nearly 10% of newly diagnosed patients are age 18 or older (these patients usually have a milder form of the disease).

The sweat test is the standard test for diagnosing CF. The CF Foundation recommends that the sweat test be performed at a CF Foundation-accredited care center, which has strict guidelines to ensure accurate results. The sweat test is a simple and painless procedure that measures the amount of salt in the sweat. A high salt level indicates CF.

In May 2005, the U.S. Food and Drug Administration approved the first DNA-based blood test to help detect CF. Genotyping is a test that can be used to help diagnose cystic fibrosis and to identify those who are carriers of the gene variations.

The Prognosis for Cystic Fibrosis
Just 50 years ago, children with CF seldom lived long enough to attend elementary school. Today, thanks to advances in diagnosis and treatment, the median age of survival for people with CF is 37 (more than five years were added to the median survival age in the past four years alone), and more than 40% of the current CF population is 18 years of age or older. In fact, since 1988, the number of adults with CF has grown by 97.1%.

Commonly Used Terminology in Caring for Cystic Fibrosis
To help you understand the “language” of CF, here is a glossary of some of the most common words, phrases and abbreviations used in the care and treatment of this disease:

• Azithromycin: An antibiotic shown to modify CF lung disease. These antibiotics seem to have significant anti-inflammatory effects, which appear to be independent of their anti-bacterial effects, and may prove to be very useful in treating the inflammatory component to CF lung disease. In addition, in people with CF whose lungs are chronically infected with the Pseudomonas aeruginosa bacteria this drug inhibits a component that is needed to form biofilms around the microorganism.
• Bone Density or DEXA scan: A test that measures the strength and density of bones, it is used to diagnose osteoporosis, a condition in which bones become thin and fragile. Decrease vitamin D absorption, frequent courses of steroids, and/or chronic inflammatory states are reasons why CF patients are at a higher risk for osteoporosis.
• Burkholderia-Cepacia (B. cepacia, for short): A group of bacteria to which people with CF are susceptible.
• Clubbing: This is when the tips of the fingers and toes get bigger and rounder. Clubbing is common in CF patients.
• Complete Blood Count (CBC): A CBC is a test that examines components of the blood including the number of red blood cells, white blood cells and platelets. A CBC is useful in diagnosing health problems, such as infection, inflammation, and in monitoring the effects of treatment.
• Cystic Fibrosis-Related Diabetes (CFRD): About 15% of patients over 35 have CFRD. Adults who have CF are at risk for developing CFRD and insulin-therapy is the treatment of choice. An oral glucose tolerance test is the gold standard for diagnosis of CFRD.
• Exacerbation: Refers to a change in respiratory signs and symptoms from the patients baseline which requires treatment with antibiotics and aggressive airway clearance. Signs and symptoms of an exacerbation can include increased cough, sputum (phlegm or mucus that’s coughed up) and increased breathing, weight loss, fever, fatigue, malaise and/or shortness of breath.
• G-Tube: A gastric feeding tube, or "G-tube,” is a tube inserted through a small incision in the abdomen into the stomach. It is used when CF patients cannot take enough food by mouth to maintain their weight.
• Hypertonic Saline: This is extra-salty, sterile water that has been found to help clear the thick mucus from the lungs of people with CF. In a CF Foundation-sponsored study in Australia, patients taking hypertonic saline had better lung function and fewer lung infections.
• In vitro fertilization (IVF): IVF is a method of assisted reproduction that involves combining an egg with sperm in a laboratory dish, then implanting the embryo into the woman’s uterus to further develop. Because CF can make conceiving a child difficult, IVF may be an option for some couples. Intracytoplasmic sperm injection (ICSI) is a form of IVF that has been performed successfully in people with CF.
• Malabsorption: When the body cannot absorb necessary nutrients from food. In CF, mucus can clog the ducts of digestive organs so that the enzymes that break down food and help with the absorption cannot do their job – resulting in the bodies inability to receive the nutrients needed to grow and thrive.
• Nebulizer: The mouthpiece device used to deliver important respiratory medication (TOBI, Pulmozyme, Albuterol, Hypertonic Saline, etc.).
• Oral Glucose Tolerance Test (OGTT): This is a test to diagnose CFRD. This test requires fasting of 8-10 hours, then after a fasting glucose level is drawn you will be asked to drink a high-glucose beverage. Blood samples are taken prior to the test, in an hour after you drink the high glucose beverage and 2 hours after you drink the beverage..
• Osteoporosis: A decrease in bone mass and bone density that causes an increased risk and/or incidence of fracture.
• Pancreatic enzyme replacement therapy (PERT): People with CF have mucus that either partially blocks or fully obstructs the pancreatic ducts, which keeps important digestive enzymes from reaching the small intestine. As a result, people with CF experience digestive problems and cannot absorb nutrients from food. Pancreatic enzyme replacements are capsules/beads, taken with food, to help CF patients absorb necessary nutrients and fat. Some of the PERT brands available in the U.S. are Creon®, Pancrease®, Ultrase®, and Pancreacarb®.
• Pancreatic insufficiency: People with CF have mucus that either partially or fully obstruct their pancreatic ducts, keeping important digestive enzymes from reaching the small intestine to aid in the absorption of necessary fat and other nutrients. Pancreatic insufficiency is common in people with CF.
• Portacath: A catheter surgically implanted into a major blood vessel to allow easier access fro drug administration. A Portacath is placed under the skin on the chest wall or on the arms.
• Pulmonary Function Test (PFT): A test used to measure lung function. It measures air flow and lung volume.
• Pseudomonas aeruginosa: A type of bacteria often found in the lungs of people with CF and the most common cause of lung infections.
• Pulmozyme®: A mucus-thinning drug shown to reduce the number of lung infections and improve lung function.
• SED Rate: The ESR (erythrocyte sedimentation rate) is a one-hour screening test that detects and monitors inflammation.
• Sputum culture: A lab test done quarterly to identify microorganisms growing in the airways. Results from this test are used to determine what antibiotics will be best to treat the infection.
• Supplemental Security Income (SSI): This is a federal government program that provides limited income assistance to people who are age 65 or older, disabled or blind. Some people with CF may qualify for SSI benefits.
• Sterility: Approximately 98 percent of men with CF are sterile secondary to the absence or abnormalities of the Vas Deferens.
• TOBI®: This stands for tobramycin solution for inhalation. TOBI is an antibiotic in aerosol form used for chronic maintenance and suppression of pseudomonas colonization in the airways.

For a physician referral, call 1-800-700-5700.