Cystic fibrosis (patient information)
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shaghayegh Habibi, M.D.[2]
Overview
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What are the Symptoms of cystic fibrosis?
- Skin tastes salty
- Baby doesn't pass stool when first born
Pulmonary symptoms:
- Pulmonary infections (cause frequent coughing that brings up thick sputum that is sometimes bloody)
- Nasal polyps (growths in the nose)
Digestive System:
- Diarrhea or bulky, foul-smelling, greasy stools (mucus can block ducts in pancreas and prevents enzymes from reaching the intestines. As a result, intestines can't fully absorb fats and proteins.
- Stomach pain and discomfort (because of too much gas or severe constipation)
- Poor weight gain and growth (because of the lack of enzymes to help absorb fats and proteins)
- Rectal prolapse (frequent coughing or problems passing stools may cause rectal tissue from inside to move out of rectum)
What Causes cystic fibrosis?
- The CFTR gene makes a protein that controls the movement of salt and water in and out of the cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work well. This causes thick, sticky mucus and very salty sweat.
- More than a thousand defects are known that can affect the CFTR gene. The type of defect may affect the severity of cystic fibrosis.
Who is at Highest Risk?
- Every person inherits two CFTR genes, one from each parent. Children who inherit two faulty CFTR genes from both parents will have CF.
Diagnosis
Newborn Screening
- All States screen newborns for CF 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.
Sweat Test
- If a genetic test or blood test suggests CF, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing CF. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg, rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of CF.
Other Tests
- Genetic tests to find out what type of CFTR defect is causing your CF.
- A chest x ray can show whether your lungs are inflamed or scarred, or whether they trap air.
- A sinus x ray may show signs of sinusitis, a complication of CF.
- Lung function tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood.
- A sputum culture which your doctor will take a sample of your sputum (spit) to see whether bacteria are growing in it. If you have bacteria called mucoid Pseudomonas, you may have more advanced CF that needs aggressive treatment.
Prenatal Screening
- If you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis and chorionic villus sampling (CVS).
- In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus and removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal.
- In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. and removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has CF.
Cystic Fibrosis Carrier Testing
- People who have one normal CFTR gene and one faulty CFTR gene are CF carriers. CF carriers usually have no symptoms of CF and live normal lives. However, carriers can pass faulty CFTR genes on to their children. If you have a family history of CF or a partner who has CF (or a family history of it) and you're planning a pregnancy, you may want to find out whether you're a CF carrier.
- A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect faulty CF genes in 9 out of 10 cases.
Treatment Options
Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include:
- Preventing and controlling lung infections
- Loosening and removing thick, sticky mucus from the lungs
- Preventing or treating blockages in the intestines
- Providing enough nutrition
- Preventing dehydration (a lack of fluid in the body)
Treatment for Lung Problems
- The main treatments for lung problems in people who have CF are chest physical therapy (CPT), exercise, and medicines. Your doctor also may recommend a pulmonary rehabilitation (PR) program.
Chest Physical Therapy
CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs.
Exercise
Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition.
However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood.
Medicines
If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oralmedicine ivacaftor (approved for people with CF who are 6 years of age and older).
- Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral, inhaled, or intravenous (IV) antibiotics. Oral antibiotics often are used to treat mild lung infections. Inhaled antibiotics may be used to prevent or control infections caused by the bacteria mucoid Pseudomonas. For severe or hard-to-treat infections, you may be given antibiotics through an IV tube (a tube inserted into a vein). This type of treatment may require you to stay in a hospital.
- Anti-inflammatory medicines can help reduce swelling in your airways due to ongoing infections. These medicines may be inhaled or oral.
- Bronchodilators help open the airways by relaxing the muscles around them. These medicines are inhaled. They're often taken just before CPT to help clear mucus out of your airways. You also may take bronchodilators before inhaling other medicines into yourlungs.
- Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms.
Treatments for Advanced Lung Disease
- If you have advanced lung disease, you may need oxygen therapy.
- If other treatments haven't worked, a lung transplant may be an option if you have severe lung disease. A lung transplant is surgeryto remove a person's diseased lung and replace it with a healthy lung from a deceased donor.
Pulmonary Rehabilitation
Pulmonary rehabilition is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems.
PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include:
- Exercise training
- Nutritional counseling
- Education on your lung disease or condition and how to manage it
- Energy-conserving techniques
- Breathing strategies
- Psychological counseling and/or group support
Treatment for Digestive Problems
- Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs.
- Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins
- Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can't absorb
- High-calorie shakes to provide you with extra nutrients
- A high-salt diet or salt supplements that you take before exercising
- A feeding tube to give you more calories at night while you're sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you'll attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep.
- Sometimes surgery is needed to remove an intestinal blockage.
- Medicines to reduce your stomach acid and help oral pancreatic enzymes work better.
Where to find Medical Care for Cystic fibrosis?
Medical care for cystic fibrosis can be found here.
Prevention
- There is no known way for the primary prevention of cystic fibrosis.
What to Expect (Outlook/Prognosis)?
Possible Complications
Lung involvement:
- Pulmonary infections.
- Sinusitis (inflammation of sinuses)
- Airway obstruction
- Hemoptysis
- Respiratory failure
Gastrointestinal involvement:
- Maldigestion and malabsorption of nutrients, followed by sequelae of malnutrition (permanent stunting of stature, cognitive dysfunction and more rapid decline in pulmonary function)
- Pancreatitis (inflammation of pancreas)
- Gastroesophageal reflux disease
- Obstipation/constipation
- Cholelithiasis (gallstone)
- Malabsorption
Reproductive system involvement:
- In cystic fibrosis 98% of men are infertile.
Endocrine system:
- Diabetes mellitus
- Osteoporosis
- Delayed sexual development