Cystic fibrosis (CF) is a serious genetic condition that causes severe damage to the respiratory and digestive systems. This damage often results from a buildup of thick, sticky mucus in the organs.
The most commonly affected organs include the:
According to the Cystic Fibrosis Foundation, more than 30,000 people in the United States have cystic fibrosis, and another 1,000 people are diagnosed with it every year. CF is a progressive condition, so it gets worse over time.
Regular, daily care can help manage CF, but theres no one treatment plan that will work for everyone. With a treatment plan specific to your needs, you can still live a full life, attend school, and have a career.
In this article, we take a look at the symptoms, causes, diagnosis, and treatment of cystic fibrosis.
Cystic fibrosis affects the cells that produce sweat, mucus, and digestive enzymes. Normally, these fluids are thin and smooth like olive oil. They lubricate your organs and tissues, keeping them from getting too dry.
If you have CF, a genetic mutation increases the thickness of mucus and other body fluids. When this happens, the thicker fluids can interrupt the function of organs like the movement of air through your lungs. This can trap bacteria and lead to infections.
In more advanced cases, people with CF may have complications like respiratory failure and malnutrition.
Its critical to get treatment for CF right away. Early diagnosis and treatment can improve quality of life and lengthen ones life span.
Screening tests and treatment methods have improved in recent years, so many people with CF can now live into their 40s and 50s.
The symptoms of cystic fibrosis can vary depending on the person and the severity of their condition. The age at which symptoms develop can also differ.
Symptoms may appear at infancy, but for other children, symptoms may not begin until after puberty or even later in life. As time passes, the symptoms associated with the disease may get better or worse.
One of the first signs of CF is a strong, salty taste to the skin. Parents of children with CF have mentioned noticing this saltiness when kissing their children.
Other symptoms of CF result from complications that affect the:
The thick, sticky mucus associated with CF often blocks the passageways that carry air into and out of the lungs. This can cause the following symptoms:
The abnormal mucus can also plug the channels that carry the enzymes produced by the pancreas to the small intestine. Without these digestive enzymes, the intestine cant absorb the necessary nutrients from food. This can result in:
CF occurs as a result of a defect in whats called the cystic fibrosis transmembrane conductance regulator gene, or CFTR gene. This gene controls the movement of water and salt in and out of your bodys cells.
A sudden mutation, or change, in the CFTR gene causes your mucus to become thicker and stickier than its supposed to be.
This abnormal mucus increases the amount of salt in your sweat and builds up in various organs throughout the body, including the:
Different defects can affect the CFTR gene. The type of defect is associated with the severity of CF. The damaged gene is passed on to the child from their parents.
In order to have CF, a child must inherit one copy of the gene from each biological parent. If they only inherit a copy of the gene from one parent, they wont develop the disease. However, theyll be a carrier of the defective gene, which means they may pass the gene on to their own biological children.
How likely you are to inherit CF depends on several factors.
Anyone can inherit CF if their parents carry the gene. However, carriers usually have just one copy of a defective gene and may never experience symptoms or even know they carry the gene.
According to the Cystic Fibrosis Foundation, about 10 million people in the United States are carriers of the gene for CF, yet only about 30,000 have active disease.
Although carriers wont have active disease, the children of two carriers have a much higher risk. To be exact, if both your parents carry the cystic fibrosis gene, there is a:
In terms of ancestry or ethnic backgrounds, a 2019 study found that people of northern European descent have the highest rates of CF. The condition is less common in people from Hispanic or African American backgrounds, and even more rare in people of Asian descent.
People who have a family history of CF are also at an increased risk because its an inherited disorder.
The diagnosis of CF requires clinical symptoms consistent with CF in at least one organ system and evidence of CFTR dysfunction. This evidence is usually based on abnormal results from a sweat chloride test or the presence of mutations in the CFTR gene.
Clinical symptoms are not required for infants identified through newborn screening. Other diagnostic tests that may be performed include:
Although theres no cure for CF, there are various treatments available that may help relieve symptoms and reduce the risk of complications.
A lung transplant may be an option to improve and extend your life. However, the CF gene mutation will remain in your body, affecting other organs even after youve received new lungs.
There are also a number of things to consider when weighing transplantation as an option. Theres a risk of infection and rejection of the organ, and you will have to take medications that suppress your immune system for the rest of your life.
Chest therapy helps loosen the thick mucus in the lungs, making it easier to cough up. Its typically performed 1 to 4 times per day.
A common technique involves placing the head over the edge of a bed and clapping with cupped hands along the sides of the chest.
Mechanical devices may also be used to clear mucus. These include:
CF can prevent the intestines from absorbing necessary nutrients from food.
If you have CF, you might need more calories per day than people who dont the disease. You may also need to take pancreatic enzyme capsules with every meal.
Your doctor may also recommend antacids, multivitamins, and a diet high in fiber and salt.
If you have CF, its important to:
CF cannot be prevented. However, genetic testing should be performed for couples who have CF or have relatives with the disease.
Genetic testing can determine a childs risk of CF by testing samples of blood or saliva from each parent. Tests can also be performed on you if youre pregnant and concerned about your babys risk.
The outlook for people with CF has improved dramatically in recent years, largely due to advances in treatment. Today, many people with the disease live into their 40s and 50s, and even longer in some cases.
However, theres no cure for CF, so lung function will steadily decline over time. The resulting damage to the lungs can cause severe breathing problems and other complications.
If you or a loved one are believed to have CF, the first steps you should take are to confirm the diagnosis and to become educated on the condition.
A number of tests can be performed to confirm a diagnosis, and your doctor or healthcare professional should be able to discuss how advanced your condition is and what treatment plans will work best.
While theres no cure for CF, there are some facilities that provide more specialized CF care. Additionally, you will want to make sure to maintain your health and preserve your strength by doing things like:
It takes a whole team of healthcare professionals, a good support system, and the cooperation of employers, schools, and insurers to get people with CF the care they need.
There are a number of online resources and even online or local support groups that can help you or your loved ones cope the with demands of living with or caring for someone with CF.
Continued here:
Cystic Fibrosis: Causes, Diagnosis, and Treatment - Healthline
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