Cystic Fibrosis Overview
Cystic fibrosis (CF) is a potentially life-threatening disease that causes thick, sticky mucus to build up in the lungs and digestive tract, as well as the sinuses and sex organs. This build-up causes life-threatening lung infections and serious digestion problems. Read more in this patient education guide.
CF also causes loss of large amounts of salt in the sweat, which upsets the balance of minerals in the blood. This imbalance can lead to dehydration, increased heart rate, fatigue, weakness, low blood pressure, heat stroke, and death (rarely).
CF is an inherited disease. In the United States, CF is present in approximately 1 in 3500 births. It is most common among Caucasians of Northern European descent and least common among African Americans and Asians. Because CF is present at birth, it is typically diagnosed in children before age 2 years, but milder forms of the disease may not be diagnosed until early adulthood. CF has many different symptoms depending on age and the organs affected.
Symptoms in newborns:
- Delayed growth
- Not gaining weight at a normal rate during childhood
- No bowel movements within 24-48 hours after birth
- Skin that tastes salty
Symptoms in adulthood:
- Respiratory symptoms
- Men: infertility
- Women: difficulty getting pregnant
- Repeated episodes of pancreatitis (inflammation of the pancreas)
Symptoms related to bowel function:
- Severe constipation
- Stomach pain
- Gas, bloating, or a belly that appears swollen
- Poor appetite
- Stools that are pale or clay colored, foul smelling, have mucus, or that float
- Weight loss
- Lack of appropriate weight gain and growth in children
Respiratory symptoms (i.e. lungs and sinuses):
- Coughing or increased mucus in the sinuses or lungs
- Nasal congestion caused by nasal polyps
- Recurrent episodes of pneumonia
- Sinus pain or pressure caused by infection or polyps
Written by Laurie LaRusso, MS, ELSShow All
Doctors Who Treat Cystic Fibrosis
As cystic fibrosis (CF) is diagnosed, treated and managed, you may encounter the following team of doctors and specialists.
CF Specialist — A doctor who specializes in the complex medical care required to manage CF. CF specialists diagnose and treat the disease and monitor the ongoing care of people with CF.
Pediatrician — A doctor who specializes in the medical care of children. Children with CF may initially see a pediatrician before being referred to a CF specialist.
Respiratory Therapist — A licensed health care professional who specializes in preserving lung function to maintain overall health and quality of life. Respiratory therapists are involved in many aspects of CF care, including diagnostic testing, administering therapy, and patient and caregiver education.
Registered Dietitian — A nutrition professional who has passed a national exam to become a registered dietitian. Dietitians manage the nutritional therapy for people with CF.
Physical Therapist — A licensed health care professional who uses physical treatment techniques (e.g. exercises) to promote movement, reduce pain, restore function, and prevent disability. Physical therapists teach CF patients appropriate exercises to help their condition and monitor their exercise regimens.
How to Prepare for Your Cystic Fibrosis Doctor Visit
Because cystic fibrosis (CF) is an inherited disorder that is typically identified at or near birth, medical care begins in infancy and continues throughout life. When seeing a healthcare provider for CF, there are certain actions you can take to maximize the benefit of your doctor visit.
- Keep a diary of your or your child’s symptoms and the severity of the symptoms.
- Write down a list of current symptoms so that you can discuss them with the doctor or therapist.
- Write down a list of any other illnesses or symptoms you or your child has had.
- Make a list of all medications, vitamins and supplements that you or your child is taking, including the dosages of each.
- Make a list of questions you have for the doctor so you don’t forget to ask any of them.
- Be prepared to take a very active role in managing your or your child’s condition. CF is a very complex and life-threatening disease that requires ongoing therapy and active participation by patients and their parents or caregivers.
Questions to Ask Your Doctor About Cystic Fibrosis
From the initial diagnosis throughout your treatment and care, you will have questions about your or your child’s condition. Below is a list of questions to discuss with your doctor so you can make informed decisions about your or your child’s care.
Questions About My Diagnosis
- What causes cystic fibrosis?
- How is cystic fibrosis diagnosed?
- Are there specific tests for cystic fibrosis?
- Does having cystic fibrosis put my child at risk for other health problems?
- Will the disease get worse over time?
Questions About My Treatment
- How is cystic fibrosis treated?
- Will insurance pay for all of the visits to specialists?
- How often will we need to see a specialist?
- Will my child need to take medication for the rest of his/her life?
- Are there any new medicines or therapies for cystic fibrosis?
Questions About My Lifestyle & Family
- Will my child be able to attend a regular school? Will he or she need special assistance at school?
- Will my child be able to participate in sports, music and arts classes, and other childhood activities?
- Are there changes in diet or daily activities that can help relieve symptoms?
- What is the life expectancy for a person with cystic fibrosis?
- Is there a support group for people with cystic fibrosis and their families?
- Will I pass my CF on to my children?
Common Tests or Labs to Diagnose Cystic Fibrosis
Laboratory tests are used to diagnose cystic fibrosis (CF) and to diagnose and monitor lung and digestive problems related to the disease. Listed below are the most common tests to diagnose cystic fibrosis, why you need them, and what they can tell you about your condition.
|Test||Why Test?||What Happens?||Normal Result|
|Immunoreactive trypsinogen (IRT) test||A standard newborn screening test for CF||A blood sample is taken from an infant’s heel and a spot of blood is put onto filter paper. Or a blood sample is taken from a vein in the arm of older children or adults.||A high level of IRT suggests CF and indicates the need for further testing to confirm the diagnosis. The test also shows whether the pancreas is working properly.|
|CF gene mutation test||To look for variations in the CFTR gene known to cause CF||A blood sample is taken from an infant’s heel and a spot of blood is put onto filter paper. Or a blood sample is taken from a vein in the arm of older children or adults. Prior to birth, a sample can be taken from the fetus during an amniocentesis.||The results will show whether a person has faulty CFTR genes. It can also be used to determine if a person without CF is a carrier of a faulty CFTR gene.|
|Sweat chloride test||The standard diagnostic test for CF; typically used to confirm gene and blood tests||A sweat-producing chemical is rubbed on the skin of an arm or leg to trigger sweating. An electrode is used to provide a mild electrical current to the skin. Sweat is collected on a pad and analyzed.||A high level of salt in the sweat indicates CF.|
Because CF affects the function of the lungs, digestive system, and other body systems, it leads to other illnesses and medical complications. For this reason, people who have CF often undergo many other laboratory and imaging tests over the course of their lives. Below are some of the most common tests used to monitor illnesses and medical complications related to CF.
- Chest x-ray or CT scan to examine the lungs for problems such as inflammation, scarring or trapped air
- Lung function tests to measure breathing capacity and how well the lungs deliver oxygen to the blood
- Sputum culture to check for bacteria in mucus from the lungs and airways
- Sinus x-ray to look for signs of sinusitis
- Fecal fat test to estimate the percentage of dietary fat not absorbed by the body
- Trypsinogen blood test to assess function of the pancreas
- Trypsin and chymotrypsin stool test to assess function of the pancreas
- Secretin stimulation test to measure the pancreas’s response to the hormone secretin, which releases enzymes that digest food
- Upper GI and small bowel x-ray series to examine the esophagus, stomach, and small intestine
Common Medications and Treatments for Cystic Fibrosis
Currently, there is no cure for CF. Treatment focuses on preventing and managing complications and illnesses that arise from CF, including lung infections, blockages in the intestines, dehydration, and malnutrition. People with CF are monitored and treated by CF specialist physicians at CF specialty clinics. Comprehensive treatment and regular follow-up care are essential for improving quality of life and prolonging life.
Treatment for Lung Problems
Treatments for the lungs are aimed at loosening and removing thick, sticky mucus from the lungs and treating or preventing lung infections. The table below describes the common medications and therapies for lung problems.
|Drug or Therapy||How it works|
|DNAse enzyme therapy||
|Hypertonic saline solutions||
|Chest physical therapy (CPT)||
Treatment for Digestive Problems
Treatments for the digestive system are aimed at preventing or treating dehydration, malnutrition, and blockages in the intestines. Nutritional therapy can improve physical strength and strengthen the immune system to help fight of lung infections. In children, nutritional therapy can help improve growth and development.
The table below describes the common therapies used to treat digestive complications.
|Drug or Therapy||How it works|
|Enemas and mucus-thinning medicines||
In addition to medical treatments for lung and digestive problems, people with CF and their caregivers need to take the following steps to maintain good health:
- Avoid smoke, dust, dirt, fumes, household chemicals, fireplace smoke, and mold or mildew.
- Cough up mucus from the airways one to four times a day.
- Do chest percussion and postural drainage to help keep the airways clear.
- Drink plenty of fluids, especially in hot weather, when having diarrhea or loose stools, and during physical activity.
- Exercise two or three times a week.