Adult CF: Understanding Cystic Fibrosis
Cystic fibrosis (CF) is a long-term (chronic) genetic disorder. You were born with it, even if you have only recently started to have symptoms.
CF affects the glands that make mucus and sweat. CF causes secretions like mucus, tears, sweat, saliva, and digestive juices to become thicker. They then don’t flow as freely.
In the lungs, thickened mucus can trap bacteria. This can lead to serious infections. In the digestive system, the enzymes that break down food may be blocked. Without them, the intestines can’t fully absorb fats and proteins. CF can lead to vitamin deficiency and malnutrition.
CF may also affect the level of chloride in your body. Chloride is found in your sweat. The sweat chloride level is high in people with CF. Your body needs a certain amount of salt. Salt contains chloride, sodium, and other minerals. With CF, you may lose a lot of salt when you sweat. This can cause an imbalance. It can lead to health problems, such as dehydration, heat stroke, and an irregular heartbeat.
There is no cure for CF. It gets worse over time.
What causes cystic fibrosis?
CF is caused by a change (mutation) in the CFTR gene. CFTR stands for cystic fibrosis transmembrane conductance regulator. This causes a problem with the CFTR protein that controls the flow of water and certain salts in and out of the body’s cells. In a person with CF, this protein doesn’t work right. So mucus and other secretions become thickened.
The CFTR gene can have many problems that lead to CF. The type of problem may play a role in how mild or severe your symptoms are.
Symptoms of cystic fibrosis
CF may affect many systems in the body. These include those for breathing, digestion, and reproduction. So the disease can cause a lot of symptoms. They can range from mild to severe. They often get worse over time.
These are some of the most common respiratory symptoms:
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Thick mucus in lungs
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Frequent coughing, wheezing, or shortness of breath
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Coughing of thick, sometimes bloody mucus
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Chronic lung or sinus infections
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Fleshy growths in the nose (nasal polyps)
Some common digestive symptoms are:
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Intestinal blockages. These are found in babies soon after birth.
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Chronic diarrhea with greasy, foul-smelling, large stools.
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Belly (abdominal) cramping or pain.
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Being underweight.
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Swelling (inflammation) in the pancreas (pancreatitis).
You may also have these other symptoms:
People with CF also tend to develop health problems such as diabetes, liver disease, and osteoporosis.
How is cystic fibrosis diagnosed?
CF is often diagnosed in children by age 2. Newborns are now routinely screened for the disease. But such testing was not done in all U.S. states until 2010. As a result, CF may not be found until adulthood. Sometimes its symptoms may be mistaken for other health problems, such as asthma.
Your health care provider will diagnose CF based on your symptoms and certain tests. You’ll first need a blood test to screen for CF. It may find problems in the CFTR gene. If this test is positive, you’ll then have a sweat chloride test. People with CF tend to have high levels of chloride in their sweat.
These tests may not always be accurate. Plus, some people may have a rare genetic defect not found through regular testing. So, you may need other tests, such as:
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Blood tests to measure levels of vitamins and minerals or to check liver function.
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Chest X-rays to view the lungs.
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Lung (pulmonary) function tests to check breathing.
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Sputum cultures to check for lung infection.
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Stool assessments to see how your body absorbs fat.
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DNA tests to confirm diagnosis, if needed.
How is cystic fibrosis managed?
The goal of treatment is to control symptoms and slow the progress of the disease. To manage CF, you will likely need:
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Medicine to prevent or treat infections, reduce swelling, open airways, or thin mucus.
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Pancreatic enzymes to help you absorb nutrients.
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Certain vitamins.
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Changes in diet, such as adding extra calories, salts, and fluids.
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Exercise.
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Airway clearance techniques. These include chest physical therapy, special ways of breathing and coughing, and using mouth devices and vibrating vests. They help loosen and clear mucus. This lowers your risk of infection and helps you breathe better.
Your care team will include social workers, respiratory therapists, psychologists, physical therapists, pharmacists, nurses, genetic counselors, and cystic fibrosis specialists. Your team also will include nutritionists and dietitians and health care providers who specialize in diabetes, the digestive system, and the lungs.
Some people are given CFTR modulator therapies. These are only for people with very specific gene changes. For severe or advanced conditions, you may need surgery. One kind of surgery is a lung transplant. This addresses the lung disease but not the effects on other parts of the body.
Living with CF
Better treatments have extended the lives of people with CF. Many people with CF can now expect to live into their 30s to 40s, and beyond. You will need regular health care for life. You will need to stay in touch with all your health care providers. You may be able to use the services of a cystic fibrosis center, where there are providers trained in treating this disease.
As with many chronic diseases, CF can seem to take over your life and that of your family. Make sure to get support to help you cope. Ask your care team or check online for CF support groups. And especially at the beginning, focus on getting through one day at a time. Talk with a professional counselor about ways to help you and your family manage the financial, emotional, and medical issues that can go along with this disease.