Cystic fibrosis, often abbreviated as CF, is a serious genetic condition that causes severe damage to the respiratory and digestive systems. The damage caused by cystic fibrosis typically results in a buildup of mucus that is thick and sticky in and around the organs. For most people with cystic fibrosis, affected organs include the lungs, pancreas, liver, and intestines.
In this article, we’ll take a closer look at cystic fibrosis, and examine the symptoms, causes, and treatments available for current patients.
What Is Cystic Fibrosis?
Cystic fibrosis, as previously mentioned, is the result of a genetic mutation. According to the Centers for Disease Control and Prevention (CDC), about 30,000 people in the United States have cystic fibrosis, or about 1 in 2,500, with another 1,000 people diagnosed each year. This makes cystic fibrosis the single most common life-limiting recessive genetic disorder.
The mutation that causes cystic fibrosis affects the cells in your body that produce sweat, mucus, and digestive enzymes. In someone without cystic fibrosis, these fluids are thin and smooth and help keep your organs and tissues from drying out.
In someone with cystic fibrosis, the mutation increases the thickness of mucus and other bodily fluids. When this happens, the increased thickness of these fluids can disrupt the normal function of organs, such as the movement of air through your lungs. This blockage can trap bacteria and lead to infections down the road.
If you have cystic fibrosis, it’s crucial to seek treatment immediately. In more advanced stages, cystic fibrosis can cause serious complications like respiratory failure and malnutrition. Early diagnosis and treatment can improve quality of life and lengthen one’s life span.
Symptoms of Cystic Fibrosis
In the U.S., due largely to newborn screening, cystic fibrosis is usually diagnosed within the first month of life. However, for those who may have been born before newborn screening became available, or who may not have had access to screening, cystic fibrosis may not be diagnosed until symptoms arise.
One of the first signs of cystic fibrosis is a strong, salty taste on the skin. Parents who have children with cystic fibrosis have reported noticing this saltiness when kissing their children.
The signs and symptoms of cystic fibrosis vary depending on the severity of the disease. Even within the same person, symptoms may become worse as time passes. Some people with cystic fibrosis may not experience any symptoms until their teenage years or early adulthood.
As previously mentioned, cystic fibrosis typically affects the respiratory and digestive systems. As a result, the majority of people with cystic fibrosis experience symptoms involving these areas of the body.
The thick and sticky mucus associated with cystic fibrosis can clog the tubes that carry air in and out of your lungs. This can cause a host of problems, and cause some of the following symptoms:
- Recurrent sinusitis
- Repeated lung infections
- A persistent cough that produces thick mucus (sputum)
- Exercise intolerance
- Inflammation of the nasal passages or a stuffy nose
The same thick mucus that builds up in the lungs can also block tubes that carry digestive enzymes from your pancreas to your small intestine. When this happens, your intestines are not able to receive all of the enzymes they need to digest food properly. As a result, some of the following symptoms may appear:
- Poor weight gain and growth
- Intestinal blockage, typically observed in newborns
- Foul-smelling, greasy stools
- Chronic or severe constipation
What Causes Cystic Fibrosis?
Cystic fibrosis is the result of a mutation in the “cystic fibrosis transmembrane conductance regulator” gene or CFTR gene for short. The CFTR gene is responsible for the movement of water and salt in and out of your cells.
A mutation in this gene causes your mucus to become thicker and more viscus than it’s supposed to be. This thicker mucus causes the salt levels in your sweat to rise and can build up in your organs.
Several mutations can affect your CFTR gene. The type of mutation you carry is associated with the severity of your cystic fibrosis. Typically, this mutation is passed on from your parents.
To develop cystic fibrosis, you need to inherit one copy of the mutated gene from each parent. If you only have one copy, you won’t develop cystic fibrosis. However, you will be a carrier of the mutated gene and could pass it on to your children.
Who Is Most At Risk for Cystic Fibrosis?
Because cystic fibrosis is an inherited genetic disorder, it runs in families, which makes family history one of the biggest risk factors. Anyone can inherit the mutated gene that causes cystic fibrosis, however, not all who are carriers will develop the condition.
According to the Cystic Fibrosis Foundation, about 10 million people in the U.S. are carriers of the gene for cystic fibrosis, yet only about 30,000 have the disorder.
While carriers of the gene for cystic fibrosis won’t develop an active case of the disease, the children of two carriers will have a significantly higher risk. If both of your parents are carriers of the gene, you have a:
- 25 percent chance of developing cystic fibrosis
- 25 percent chance of not being a carrier or developing cystic fibrosis
- 50 percent chance of being a carrier with no active disease
Another risk factor for cystic fibrosis is ethnicity. Although the disease occurs in all races, it has been observed in higher numbers among people of Northern European ancestry. The condition is less common in people from Hispanic or African American backgrounds, and even more rare in people of Asian descent.
Treating Cystic Fibrosis
Unfortunately, there is currently no known cure for cystic fibrosis. With that said, there are various treatments available that can help relieve symptoms and reduce your risk of further complications. With the right treatment plan specific to your needs, you can manage your cystic fibrosis and live a full, fulfilling life.
What treatment works best for you is a decision that your doctor can help you make. Typically, your doctor will likely prescribe one of two treatment methods: medications or surgical procedures. Depending on your symptoms and the severity of your cystic fibrosis, your doctor may even prescribe a combination of the two.
Several different medications can help manage cystic fibrosis symptoms. These can include:
- Antibiotics: Your doctor may prescribe antibiotics to help your body get rid of infections or prevent future infections. These are typically given orally, in liquid or tablet form, but can be administered intravenously in more severe cases.
- Bronchodilators: Bronchodilators relax the muscles surrounding the tubes that carry air to your lungs. This can help increase airflow and help you breathe easier. Typically, bronchodilators are given through an inhaler or a nebulizer.
- Mucus-thinning medications: These medications can make the mucus that builds up in your body thinner and less sticky. They can also help you cough up the mucus, which can help clear it from your lungs.
- Nonsteroidal anti-inflammatory drugs (NSAIDs): NSAIDs are a class of medications that include ibuprofen, which can play a limited role in reducing inflammation around your airway. The Cystic Fibrosis Foundation recommends the use of high-dose NSAIDs in children between the ages of 6 and 17 who have good lung function. NSAIDs are not recommended for people with more severe cystic fibrosis, or who are over the age of 18.
- Cystic fibrosis transmembrane conductance regulator (CFTR) modulators: CFTR modulators are a type of drug that aims to improve the function of your CFTR gene. To see if you are a fit for CFTR modulators, you will need to undergo CFTR gene studies to determine if you carry one of the mutations approved for CFTR modulator drugs.
Should medications not work, or if your doctor recommends it, surgery is sometimes needed to help treat cystic fibrosis. There are a few surgeries that can help, which include:
- Feeding tube: Since cystic fibrosis can interfere with your digestive system, a feeding tube may sometimes be required to help supply nutrition directly to your stomach.
- Bowel surgery: Typically reserved for more severe cases of cystic fibrosis, this emergency surgery involves removing a section of your bowels.
- Double lung transplant: When trying to manage your cystic fibrosis through medications fails, a double lung transplant can help improve the length and quality of your life.
Life with cystic fibrosis requires a team of a dedicated healthcare professionals, the right resources, and a solid support system to help you get the care you need.
Many online resources can help you or your loved ones deal with the demands of living with cystic fibrosis. One such resource is the Pain Resource Community, an online support group dedicated to helping people with chronic pain connect with others, share their stories, and build their support network.
As always, if you have more questions about cystic fibrosis, or if you’d like to learn more about specific symptoms or conditions, visit our Pain A-Z page to find exactly what you’re looking for.
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