Cystic fibrosis (CF)

• Cystic fibrosis (CF), also called mucoviscidosis, is an inherited life-threatening disorder that causes severe lung damage and nutritional deficiencies.
• CF causes the body to produce abnormally thick and sticky mucus, saliva, sweat, and digestive enzymes. In healthy individuals, these secretions serve as lubricants in the body. In CF patients, the secretions are so thick that they plug up tubes and passageways in the body. The lungs and pancreas are the most commonly affected organs in CF patients.
• The disease is most common among Caucasians. Researchers estimate that one out of 3,500 Caucasians in the United States is born with CF. About one out of 15,000 African Americans, one out of 9,200 Latinos, and one out of 31,000 Asian Americans are born with the disease in the United States.
• Complications of CF, including lung infections and nutritional deficiencies, can be fatal. Patients with CF typically die earlier than individuals who do not have the condition. The average life expectancy of CF patients is 35 years old.
• There is currently no cure for CF. Instead, treatment focuses on reducing symptoms and preventing complications.

• Mutated gene: Patients with cystic fibrosis (CF) inherit two copies of a mutated or defective gene from their parents. This mutated gene changes a protein in the body that regulates the movement of salt in and out of cells. As a result, patients develop thick mucus secretions in the respiratory, digestive, and reproductive tracts. It also leads to increase salt in the patient's sweat.
• Autosomal recessive inheritance: This mutated gene is inherited as an autosomal recessive trait. This means that patients must inherit one mutated gene from each parent in order to develop the disease.
• Patients who only have one mutated gene and do not experience symptoms of the disorder are called carriers. Although carriers do not have the disorder, they have a 50% chance of passing a copy of the mutated gene on to their children. Researchers estimate that one out of 20 Caucasians are carriers of CF.
• Both parents must either be a carrier or have the disorder in order for their children to develop the CF. If both parents are carriers of the mutated cystic fibrosis gene, there is a 25% chance that each of their children will inherit the disease and a 50% chance that each of their children will be a carrier. If both parents have the disease, there is a 100% chance that each of their children will develop the disorder.

• General: Symptoms of cystic fibrosis (CF) vary among patients. Some patients may experience severe symptoms that affect the lungs as well as the digestive and reproductive systems. Others may experience milder symptoms that affect less parts of the body. In some cases, patients may experience more or less severe symptoms as they age.
• Newborns: In newborns, the first sign of CF may be blockage of the intestines. Healthy babies normally pass greenish-black stools, called meconium, during their first couple days of life. However, if the infant has CF, the meconium may be too thick to move through the intestines. Other signs and symptoms may include oily stools, failure to grow, and frequent lung infections.
• Children and adults: Children and adults typically have increased amounts of salt in their sweat. Parents may taste the salt when they kiss their children's skin. Other symptoms may include oily stools, thick sputum, coughing, difficulty breathing, and wheezing. Patients often suffer from blocked bowels, which may lead to protrusion of part of the rectum through the anus.
• Because CF patients experience difficulty breathing, almost all patients eventually experience enlargement or rounding of the fingertips or toes (clubbing). This happens when there is not enough oxygen in the blood.
• Less common symptoms: Less common symptoms may include abnormal growths (polyps) in the nasal passageway and cirrhosis of the liver that is caused by inflammation or obstruction of the bile ducts. Children who are older than four years old may experience displacement of one part of the intestine into another.

• General: Most patients with cystic fibrosis (CF) are diagnosed by the age of two years. In general, genetic testing is not needed to confirm a diagnosis. Instead, a less expensive test, called a sweat test, is performed. Genetic testing is primarily used to determine whether or not an individual is a carrier of the disease.
• Genetic test (DNA analysis):
  A genetic test (DNA analysis) is used to detect genetic mutations associated with CF. During the procedure, a sample of blood is taken from the patient and analyzed at a laboratory for genetic mutations. If the mutated gene associated with CF is identified in the patient's blood, a positive diagnosis is made.
• Prenatal testing: Pregnant women may wish to have their fetus' undergo prenatal testing if both she and the father have CF, are carriers of CF, or are suspected carriers of CF. This type of testing is used to determine whether or not the fetus has the disease. In order to retrieve a sample of the fetus' cells for testing, amniocentesis or chorionic villus sampling may be performed.
• During amniocentesis, a long, thin needle is inserted into the pregnant woman's abdominal wall and into the uterus. A small amount of fluid is removed from the sac surrounding the fetus.
• During chorionic villus sampling (CVS), a small piece of tissue, called chorionic villi, is removed from the placenta.
• There are risks associated with both of these procedures, including miscarriage. Patients should discuss the potential risks and benefits of these procedures with their healthcare providers.
• Sweat test: A sweat test, which measures the amount of salt in the patient's sweat, is considered the standard diagnostic tool for CF. During the procedure, a healthcare provider will apply a small amount of a sweat-producing chemical onto the patient's arm or leg. Then a small patch, called an electrode, is attached to the same area. A painless electrical current passes through the electrode, causing a warm or tingling feeling in the patient. Several minutes later, the healthcare provider collects two samples of sweat to be analyzed in a laboratory.
• Two sweat samples are tested at the same time to ensure that the results are accurate. If there are high levels of salt in the sample, the patient is diagnosed with CF.
• This test may not be accurate in newborns because babies may not be able to produce enough sweat during the first months of life. Therefore, this test is generally not performed until the patient is several months old.

• Bleeding in the lungs: Cystic fibrosis (CF) patients may develop bleeding in the lungs called hemoptysis. When this happens, patients typically cough up blood in their sputum. Patients should visit their healthcare providers as soon as possible if this occurs.
• Cirrhosis: The thick secretions in the digestive tract may block the tube that carries bile from the liver and gallbladder into the small intestine. This may lead to inflammation and scarring (cirrhosis) of the liver.
• Collapsed lung: CF patients may develop a collapsed lung, a condition called pneumothorax. This typically happens when air gets trapped inside a small hole that has formed in the outer layer of the lung. Symptoms may include chest pain, difficulty breathing, and dry cough. The veins may be visible in the neck and the skin may turn a bluish color. Patients should seek immediate treatment if symptoms develop because a collapsed lung may cause death. When the lung collapses, a chest tube may need to be inserted into the patient's chest cavity. The chest tube may need to stay in place for several days.
• Diabetes: The thick secretions in the digestive tract may block the tubes near the pancreas. The pancreas is an important organ because it produces insulin, which regulates the amount of sugar in the blood. As a result, CF patients have an increased risk of developing diabetes. An estimated 20% of CF patients develop CF-related diabetes.
• Heart failure: CF may eventually cause the lower right chamber of the heart to fail. This condition is almost always fatal.
• Infertility: Many men with CF are infertile because thick secretions in the reproductive tract block the tubes that release semen. However, fertility procedures and surgery are available that may help some men have children.
• Female CF patients may be less fertile than women without the condition. However, it is still possible for CF women to have children. Pregnancy may worsen the symptoms of cystic fibrosis and may interfere with an individual's treatment. Therefore, patients who are pregnant, thinking about becoming pregnant, or planning to become pregnant should discuss the potential risks of pregnancy with their healthcare professionals.
• Lung infections: CF patients suffer from frequent lung infections, including pneumonia, sinusitis, bronchitis, and bronchiectasis. Lung infections may be fatal. These infections occur because the thick mucus in the airways is an ideal environment for disease-causing microorganisms, such as bacteria, to grow.
• The most common disease-causing organism that affects CF patients is called Pseudomonas aeruginosa. The bacterium causes the airways to swell, making it even more difficult to breathe.
• Long-term inflammation of the airways may eventually lead to asthma.
• Patients should visit their healthcare providers if they develop symptoms of infection, including fever, chills, pain, and enlarged lymph nodes.
• Nutritional deficiencies: Most patients with CF suffer from nutritional deficiencies. This is because the thick secretions in the digestive tract prevent the pancreatic enzymes from reaching the intestine. The pancreatic enzymes are needed for the body to digest fats and proteins. Poor nutrition may lead to short stature, especially in children, as well as weight loss.
• The thick secretions also prevent the body from absorbing important vitamins, including vitamins A, D, E, and K.
• Respiratory failure: CF patients may develop respiratory failure. This occurs when the body is no longer able to supply the muscles and tissues with enough oxygen. This condition is fatal, unless treated with a lung transplant.

• General: There is currently no cure for cystic fibrosis (CF). Patients receive treatment to help reduce symptoms and complications of the disease. Patients should talk to their healthcare providers about recommended vaccines. Patients should tell their healthcare providers if they are taking any other drugs (prescription or over-the-counter), herbs, or supplements because they may interact with treatment.
• Antibiotics: Lung infections are treated with medications called antibiotics. These drugs kill the disease-causing bacteria and may be taken by mouth or injected into the skin. Newer antibiotics can be inhaled directly into the lungs. Commonly prescribed antibiotics include gentamicin (Garamycin®), ticarcillin/clavulanate (Timentin®), piperacillin/tazobactam (Zosyn®), imipenem/cilastatin (Primaxin®), aztreonam (Azactam®), and ciprofloxacin (Cipro®).
• Patients should always take medications exactly as prescribed, even if symptoms of an infection go away. If the medication is stopped too soon, the bacteria may still be present and the infection may come back.
• Bronchial airway drainage: The thick mucus that develops in the lungs of CF patients needs to be removed at least twice a day for 20-30 minutes.
• A patient's family member, friend, or caregiver may manually clap on the front and back of the patient's chest. This is often performed with the patient laying face down on the bed, with the head over the bed. This position allows gravity to help clear the mucus as the patient coughs.
• An electric chest clapper, called a mechanical percussor, may also be used at home.
• Some patients use a vibrating vest that vibrates to help loosen mucus secretion in the chest, making it easier for the patient to cough up mucus. This device may also be used at home.
• Bronchodilators: CF patients typically take medications called bronchodilators. These medications help open the airways, making it easier for the patient to breathe. Bronchodilators, such as albuterol (Proventil® or Ventolin®), are inhaled on a regular basis to help prevent symptoms of difficulty breathing.
• Enzymes: CF patients who are malnourished usually take man-made pancreatic enzymes. These enzymes allow the body to break down and absorb important nutrients from foods. These medications are typically taken by mouth before meals and snacks.
• Lung transplantation: CF patients who suffer from severe lung damage or respiratory failure may require lung transplantations. Because CF equally affects both lungs, patients generally need to have both lungs replaced. A lung transplant does not cure cystic fibrosis. Instead, it is used to replace damaged lungs that are no long able to function properly. According to researchers, about 60% of cystic fibrosis patients who receive a lung transplant survive three years or longer.
• Mucus-thinning drugs: When CF patients develop lung infections, the body produces even more mucus. The body's immune system produces extra mucus because it is fighting against the disease-causing organism. Therefore, CF patients often need to take medications that make the mucus thinner. For instance, an aerosolized drug called dornase alfa (Pulmozyme®) is often prescribed to loosen mucus secretions. This makes it easier for the patient to cough up mucus from the lungs. Side effects may include airway irritation and sore throat.
• Smoking cessation: CF patients should not smoke or be around people who smoke because it may worsen symptoms.

B

Good scientific evidence

• Music therapy
  : Music is an ancient tool of healing that was recognized in the writings of Pythagoras, Aristotle, and Plato. Today, music is used to influence physical, emotional, cognitive, and social well-being, as well as to improve the quality of life for healthy, disabled, or sick people. It may involve either listening to or performing music, with or without the presence of a music therapist. Routine chest physiotherapy (CPT) is a component of preventative therapy in children with cystic fibrosis, which requires significant time and energy. There is some evidence that music therapy may be of benefit in children's tolerance and enjoyment of physiotherapy for cystic fibrosis. Music therapy is generally known to be safe.

C

Unclear or conflicting scientific evidence

• Beta-carotene
  : Beta-carotene is a member of the carotenoids, which are very colorful (red, orange, yellow) fat-soluble compounds. They are naturally found in many fruits, grains, oil, and vegetables, such as green plants, carrots, sweet potatoes, squash, spinach, apricots, and green peppers. Individuals with cystic fibrosis may be deficient in beta-carotene and vitamin E and it has been suggested that they may be more susceptible to oxidative damage. Theoretically, these patients may benefit from beta-carotene supplementation. Further research is needed before a conclusion can be drawn.
• Avoid if sensitive to beta-carotene, vitamin A, or any other ingredients in beta-carotene products.
• Borage seed oil
  : Borage (Borago officinalis) is an herb native to Syria that has spread throughout the Middle East and Mediterranean. Borage flowers and leaves may be eaten and borage seeds are often pressed to produce oil that is very high in gamma-linolenic acid (GLA). Preliminary study suggests that borage oil may have some benefits for patients with cystic fibrosis. Although there are also some preliminary studies using other types of oils (e.g. fish oil), more research is needed to truly evaluate the benefits of using supplemental oils in this patient population.
• Avoid if allergic or hypersensitive to borage, its constituents, or members of the Boraginaceae family. Use cautiously with bleeding disorders or if taking warfarin or other anticoagulant or anti-platelet (blood thinning) agents. Use cautiously with epilepsy or if taking anticonvulsants. Avoid in patients with compromised immune systems or similar immunological conditions. Avoid if pregnant because borage oil may be contraindicated in pregnancy given the teratogenic and labor-inducing effects of prostaglandin E agonists, such as borage oil's GLA. Avoid if breastfeeding.
• Massage
  : Early evidence suggests that parent-administered massage may benefit mood and air flow in children with cystic fibrosis.
• Avoid with bleeding disorders, low platelet counts, or if on blood-thinning medications (such as heparin or warfarin/Coumadin®). Areas should not be massaged where there are fractures, weakened bones from osteoporosis or cancer, open/healing skin wounds, skin infections, recent surgery, or blood clots. Use cautiously with a history of physical abuse or if pregnant or breastfeeding. Massage should not be used as a substitute for more proven therapies for medical conditions. Massage should not cause pain to the client.
• Nasal irrigation
  : Nasal irrigation is used to clear the sinuses. Yoga enthusiasts have used nasal irrigation for thousands of years to clear both the sinus cavity and the mind. It can be performed by the patient at home or by a professional up to twice daily. There are three forms of nasal irrigation therapies. Saline lavage uses a warm liquid solution, while large-particle nebulized aerosol therapy uses aerosolized saline solution. A humidified warm air lavage (hyperthermia) may also be used. Occasionally, antibiotics are added to the solution. Chronic rhinosinusitis and progressive lung disease are extremely common in patients with cystic fibrosis. Case studies support the usage of nasal irrigation to improve lung function in cystic fibrosis patients. Another study suggests that nasal irrigation may be beneficial for cystic fibrosis patients who undergo endoscopic surgery. However, further research is needed before to confirm these findings.
• Nasal irrigation is generally well tolerated. Use cautiously with a history of frequent nosebleeds. If the irrigation liquid is hot, the nose may become irritated.
• Omega-3 fatty acids, fish oil, alpha-linolenic acid
  : Omega-3 fatty acids are found in fish oil and certain plant/nut oils. It remains unclear whether or not omega-3 fatty acids are beneficial for patients with cystic fibrosis. Further research in this area is warranted.
• Avoid if allergic to fish, omega-3 fatty acid products that come from fish, nuts, linolenic acid, or omega-3 fatty acid products that come from nuts. Avoid during active bleeding. Use cautiously with bleeding disorders, diabetes, low blood pressure, or if taking drugs, herbs, or supplements that treat any such conditions. Use cautiously before surgery. The Environmental Protection Agency (EPA) recommends that fish intake be limited in pregnant and breastfeeding women to a single six-ounce meal per week and less than two ounces per week in young children. For farm-raised, imported, or marine fish, the U.S. Food and Drug Administration (FDA) recommends that pregnant or breastfeeding women and young children avoid eating types with higher levels of methylmercury and less than 12 ounces per week of other fish types. Women who might become pregnant are advised to eat seven ounces or less per week of fish with higher levels of methylmercury or up to 14 ounces per week of fish types with about 0.5 parts per million (such as marlin, orange roughy, red snapper, or fresh tuna).
• Physical therapy
  : The goal of physical therapy is to improve mobility, restore function, reduce pain, and prevent further injury. Many techniques, including exercises, stretches, traction, electrical stimulation, and massage, are used. A technique called chest physical therapy (postural drainage, percussion, and vibration) has been used for clearance of bronchial secretions in cystic fibrosis, with or without mechanical devices, such as the Flutter valve. However, well-designed studies are lacking. Additional research is needed in this area
• Not all physical therapy programs are suited for everyone and patients should discuss their medical histories with their qualified healthcare professionals before beginning any treatments. Based on the available literature, physical therapy generally appears safe when practiced by a qualified physical therapist. However, complications are possible. Physical therapy may aggravate pre-existing conditions. Persistent pain and fractures of unknown origin have been reported. Physical therapy may increase the duration of pain or cause limitation of motion. Pain and anxiety may occur during the rehabilitation of patients with burns. Both morning stiffness and bone erosion have been reported in the physical therapy literature, although causality is unclear. Erectile dysfunction has also been reported. All therapies during pregnancy and breastfeeding should be discussed with a licensed obstetrician/gynecologist before initiation.
• Safflower
  : In the United States, safflower oil has been frequently substituted for oils with higher saturated fat content because it may have a beneficial effect on the risk of coronary heart disease. Safflower oil may be taken by mouth, injected into a vein, or applied to the skin. Cystic fibrosis patients are frequently deficient in fatty acids due to reduced absorption of nutrients. Results from studies using safflower oil supplements are mixed. Additional study is needed.
• Avoid if allergic or hypersensitive to safflower, Carthamus tinctorius, safflower oil, daisies, ragweed, chrysanthemums, marigolds, or any related constituents. Use parenteral safflower oil emulsions cautiously in newborns. Use cautiously if taking anticoagulants (blood thinners) or anti-platelet drugs, immunosuppressants, or pentobarbital. Use cautiously with diabetes, hypotension, inadequate liver function, hypercoagulability, and skin pigmentation conditions. Use cautiously if pregnant or breastfeeding.
• Selenium
  : Selenium is a mineral found in soil, water, and some foods. Early research suggests that selenium supplements may help treat cystic fibrosis. However, further research is needed before a firm conclusion can be drawn.
• Avoid if allergic or hypersensitive to products containing selenium. Avoid with a history of non-melanoma skin cancer. Selenium is generally regarded as safe for pregnant or breastfeeding women. However, animal research reports that large doses of selenium may lead to birth defects.
• Taurine
  : Taurine is found in high abundance in the tissues of many animals, especially sea animals, and in much lower concentrations in plants, fungi, and some bacteria. Taurine has been suggested as a possible treatment for cystic fibrosis because it may increase the effects of ursodeoxycholic acid (UDCA), as well as nutritional status. However, results are mixed. More research is needed to drawn a firm conclusion in this area.
• Because taurine is an amino acid, it is unlikely that there are allergies related to this constituent. However, allergies may occur from multi-ingredient products that contain taurine. Use cautiously with high VLDL cholesterol, hypertriglyceridemia, a history of low blood pressure, coagulation disorders, potential for mania, or epilepsy. Use cautiously if taking hypolipidemic medications, or hypotensive, hypoglycemic, anti-platelet or anticoagulant medications. Avoid consumption of energy drinks containing taurine, caffeine, glucuronolactone, B vitamins, or other ingredients and then consuming alcohol or exercising. Use cautiously if pregnant or breastfeeding; taurine is a natural component of breast milk. Taurine at a concentration of five millimolars per liter has been shown to support the development of human embryos (blastocyte stage) in vitro.

D

Fair negative scientific evidence

• zinc
  : Zinc formulations have been used since ancient Egyptian times to enhance wound healing. Zinc supplements do not seem to affect overall health, growth velocity, or lung function in cystic fibrosis in children.
• Zinc is generally considered safe when taken at the recommended dosages. Avoid zinc chloride since studies have not been done on its safety or effectiveness. While zinc appears safe during pregnancy in amounts lower than the established upper intake level, caution should be used since studies cannot rule out the possibility of harm to the fetus.

• There is currently no known method of prevention for cystic fibrosis (CF) because the condition is genetically inherited.
• Patients who have cystic fibrosis may wish to receive genetic counseling to learn about the risk of passing the disease onto their children.