Cystic Fibrosis Symptom Checker
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What Is Cystic Fibrosis?
Cystic fibrosis (CF) is a genetic disease that can affect many parts of the body, most commonly the lungs, the intestines, and other glands. A person with cystic fibrosis has received an abnormal gene from each of their parents. This genetic mutation affects the way in which the body transports important molecules, including water and sodium. This eventually leads to body fluids becoming stickier and thicker than normal, which can lead to many problems. Your body might also have a hard time making the adequate enzymes it needs to digest and absorb nutrients, as well as enough insulin to absorb and transform sugars into energy .
Newborns in the United States are screened for cystic fibrosis in their first few days of life. This allows doctors to diagnose the disease early and prevent complications down the line. Currently, most people with CF are diagnosed before they are one year of age, although there is still a small percentage of people who might not be diagnosed until they are young adults . Even though the disease cannot be cured at this time, there are many treatments that can help people with cystic fibrosis improve their quality of life. This might require frequent check-ins with your doctor to make sure your health is prioritized.
If you believe your child has cystic fibrosis, you should consult your physician. He or she can provide a diagnosis as well as the best options for symptom management.
Cystic Fibrosis Symptoms
Not everyone with cystic fibrosis is affected in the same way. Sometimes the symptoms are noticed at birth. For others, the symptoms do not develop until their teens or young adulthood.
- Salty sweat: People with cystic fibrosis have difficulty transporting salt and water in their body, this leads to an extra loss of salt in their sweat .
- Inability to pass stool: This is usually noticed in a newborn that is unable to pass meconium, a dark and sticky substance that is the first stool of a newborn. Most newborns that have this problem are diagnosed with cystic fibrosis, but not all people with cystic fibrosis will experience this issue .
Symptoms of cystic fibrosis are most commonly localized to the respiratory system.
- Cough: People with cystic fibrosis may frequently have a cough, which is your body's way of trying to get rid of extra phlegm. Since in cystic fibrosis, the mucus the lungs make is thicker and stickier, your body might often be trying to get rid of extra phlegm.
- Difficulty breathing: The damage that cystic fibrosis causes to the lungs usually progresses over time. This might make it difficult to take deep breaths or to feel like you get enough air when you are doing a more intense activity.
- Lung infections: The changes in your mucus might make it harder for your lungs to stay clear. If sticky and thick mucus is causing blockages in the lungs, your body might not be able to clear out bacteria. This can lead to infections inside your lungs.
- Sinus problems: Your sinuses are spaces within your skull that can create mucus. In cystic fibrosis, the mucus made in your sinuses is extra thick and sticky. This might make it harder to clear out your sinuses and can cause discomfort including congestion, sinus pressure, headaches, and even sinus infections.
The digestive system is also commonly affected in people with cystic fibrosis. Male infertility is another possibility.
- Low weight: People with cystic fibrosis might have a difficult time making enough enzymes to digest their food. This makes it hard to absorb enough nutrients to grow well.
- Greasy stools: Without the right enzymes to digest your food, all of the fats and proteins that your body cannot absorb will be found in your stool.
- Constipation: Constipation is common in people with cystic fibrosis.
- Male infertility: Most men with cystic fibrosis are missing the tubes (vas deferens) that carry sperm to the ejaculate. This means that they would be unable to get a woman pregnant through having intercourse. However, most men with cystic fibrosis make normal sperm. This means that if you and your partner are trying to have a child, you might be able to use assisted reproductive technology to get the sperm where they need to go .
Cystic Fibrosis Causes
Cystic fibrosis is a genetic disease. This means that someone with cystic fibrosis has inherited abnormal genes from their parents. In cystic fibrosis, you need two copies of the gene (one from the mother and one from the father) to develop the disease. If you only inherit one copy of the abnormal gene, you will not have cystic fibrosis, but you might pass this abnormal gene copy onto your offspring.
The specific gene responsible in cystic fibrosis is known as the cystic fibrosis transmembrane conductance regulator, also known as CFTR gene. The CFTR gene is responsible for making a protein that helps move liquid, chloride, and sodium molecules in your body. When the gene is faulty, the changes in how these molecules move causes problems with how your body functions. For example, in your lungs, there might be less liquid than is necessary to help your body produce the right type of mucus to protect your body from bacteria and other air particles .
In the pancreas, the thick mucus that your body produces might keep enzymes from being released. Enzymes are substances that help your body digest foods and absorb the right nutrients. Without these enzymes, your body will not be able to maintain a healthy weight or benefit from the nutrients in your food. You might also experience greasy stools since your body is not absorbing the fats you are eating. The thick mucus can also cause damage to the cells in the pancreas that produce insulin. Eventually, your body might not be able to produce enough insulin to absorb the sugars you eat and to help turn sugars into energy. This is often known as cystic fibrosis-related diabetes [7,8].
Cystic Fibrosis Symptom Checker
Take a quiz to find out if your symptoms point to Cystic Fibrosis
Treatment Options, Relief, and Prevention for Cystic Fibrosis
Standard treatment options
The goal of treatment for cystic fibrosis is to improve your quality of life and avoid complications. Cystic fibrosis has no cure, but working closely with your doctor and following the recommended treatments will help keep you as healthy as possible. As with anyone else, regular exercise, staying up-to-date with immunizations, regular hand-washing, and avoiding smoke and other air contaminants will help prevent unwanted complications. Other recommendations might include:
- Chest physical therapy: This often involves tapping on the front and back of your chest to help loosen mucus. There are some devices, like vibrating vests, that have the same goal of loosening the mucus in your body. By loosening up the thick mucus in your airways you might be able to cough it out and keep your lungs clear of bacteria and particles that get trapped when you breathe.
- Mucus-thinning medications: These medications help keep your lungs clear since it is easier for you to cough out thinner mucus.
- Inhalers: Different types of inhalers help improve the way air moves in your lungs. Some inhalers can also decrease the inflammation in your airways. You might have to use several inhalers to help your breathing.
- Nutrition counseling: People with cystic fibrosis need to be sure that they are getting all the right nutrients to help keep their body as healthy as possible. This might require counseling and education to help you figure out how to meet your nutritional needs. It is also important to drink plenty of fluids to help thin the mucus in your body.
- Enzymes: Since cystic fibrosis can cause problems with your pancreas, the organ that produces enzymes and insulin for your body, you might need to take extra enzymes (in pill form) or insulin, to replace what your body is missing.
- CFTR Modulators: These medications help fix the abnormal protein that is made in certain mutations of the CFTR gene, which is the gene that can lead to cystic fibrosis. Since not all people have the same exact mutation, these medications might not work for everybody. The first step is knowing what cystic fibrosis mutation you have .
When your cystic fibrosis symptoms are more active than usual or if your cystic fibrosis is progressing, you might need additional treatments to help your body feel better .
- Antibiotics: Antibiotics can help treat or prevent infections in your lungs.
- Anti-inflammatory medications: When your symptoms are more active, it might be necessary to take medications to decrease the amount of inflammation in your airways.
- Oxygen: As your cystic fibrosis progresses, you might find it harder to breathe normally. In some situations, extra oxygen through an oxygen tank or another machine might be necessary to help you feel more comfortable.
- Feeding tube: In situations where your body is not absorbing enough nutrients, your doctor might recommend that you use a feeding tube to give you extra help with nutrition. Feeding tubes are usually long tubes that can reach the stomach, placed through your nose, giving you the ability to receive extra food when you're not eating.
- Intestinal surgery: People with cystic fibrosis are at risk of blockages in their intestines. When this happens, surgery might be necessary to remove the blockage.
- Endoscopy: Sometimes your doctor might recommend that you undergo a procedure where mucus is suctioned out of your airways with a special tool, called an endoscope. This is usually only done when your airways are blocked and other treatment options are not working well.
- Lung transplant: For people who have many lung complications from cystic fibrosis, lung transplant might be considered. After a lung transplant, you would not have more symptoms of cystic fibrosis in your lungs; however, it would not change the effect of cystic fibrosis in other parts of your body.
When to Seek Further Consultation for Cystic Fibrosis
People with cystic fibrosis should see their doctor on a regular basis. Outside of your usual appointments, you should seek help if you are having any new symptoms, including fever, worsening cough, difficulty breathing, abdominal pain, or other issues that concern you.
- About cystic fibrosis. Cystic Fibrosis Foundation. CFF Link
- Newborn screening for CF. Cystic Fibrosis Foundation. CFF Link
- Mishra A, Greaves R, Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev. 2005;26(4):135-153. NCBI Link
- Carlyle BE, Borowitz DS, Glick PL. A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. Journal of Pediatric Surgery. 2012;47(4):772-781. J Ped Surg Link
- Congenital bilateral absence of the vas deferens. Genetics Home Reference. Published December 11, 2018. GHR Link
- Davies JC, Alton EW, Bush A. Cystic fibrosis. BMJ. 2007;335(7632):1255-9. NCBI Link
- Enzymes. Cystic Fibrosis Foundation. CFF Link
- Cystic fibrosis-related diabetes. Cystic Fibrosis Foundation. CFF Link
- CFTR modulator therapies. Cystic Fibrosis Foundation. CFF Link
- Cystic fibrosis. Mayo Clinic. Published Oct. 13, 2016. Mayo Clinic Link