Cystic Fibrosis

Cystic fibrosis (CF) [SIS-tic fye-BRO-sis] is a genetic disease, which means a disease that is inherited, or passed from parents to a child. Most of the time, CF affects the mucus [MEW-kuhs] lining in your liver, intestines, lungs, pancreas, sinuses, and sex organs. CF affects your mucus and sweat glands, making your mucus thick and sticky.

Mucus helps protect the body. Healthy mucus is usually slippery, but slightly thicker than water.

In people who have CF, their mucus can become so thick that it clogs the lungs, making it hard to breathe. People that have CF can also have frequent lung infections, which can cause lung damage.

The thick mucus can also block the tubes in your pancreas, which prevents enzymes from getting to your intestines, making it difficult to absorb nutrients such as fats and proteins from the food that you eat.

Although it can affect a few different organs, the thick mucus that CF creates usually has the biggest effects on how you breathe and digest food. 

Symptoms can be very different from person to person. Sometimes symptoms show up at birth, and sometimes they show up later. Also, in some cases, you may have few symptoms, or very mild symptoms when you are younger, but get more or worse symptoms when you get older. Sometimes you may have few symptoms, and other times your symptoms may be more severe. 

If CF is developed from birth, some of the first symptoms of CF include:

• A baby that does not have a bowel movement shortly after being born
• A salty taste on the skin
• Other CF symptoms tend to happen later in life, and may include respiratory, digestive, or other symptoms.

Respiratory symptoms may include:

• Lung infections, typically caused by unusual or uncommon germs that don’t respond to regular antibiotics
• Frequent, persistent cough that brings up thick mucus that is sometimes bloody
• Frequent cases of sinusitis [sahy-nuh-SAHY-tis], which is an inflammation of the sinuses
• Frequent bouts of bronchitis [bron-KAHY-tis]
• Regular cases of pneumonia [noo-MOH-nee-ah]

Digestive symptoms may include:

• Frequent foul-smelling, greasy stools, or ongoing diarrhea
• Severe constipation
• Stomach pain and discomfort
• Gas or bloating
• Poor weight gain and growth

Reproductive symptoms may include:

• Infertility in males, as they are born without a normal vas deferens
• Difficulty getting pregnant in females due to mucus blocking the cervix or other complications
• Once pregnant, women with CF may be at a higher risk of developing gestational diabetes

CF may also cause clubbing, which is when the tips of the fingers become wider and rounder as the lungs are not moving enough oxygen into your bloodstream due to the mucus blockages. Clubbing usually develops later in life.

CF may also cause >low bone density, which could lead to osteoporosis or other bone problems.

Other signs and symptoms of CF are generally due to an imbalance of nutrients and minerals in the blood. CF causes your sweat to become very salty, which causes you to lose a lot of salt when you sweat. You may become dehydrated more easily than other people.

It is important for you to see a doctor if you suspect you have CF so that you can begin treatment as soon as possible. It is important to start treatment as soon as possible because CF can have serious complications, and may also develop into, or cause, more severe conditions such as:

• Pancreatitis
• Diabetes
• Liver disease
• Gallstones
• Lung damage

CF is an inherited disease, which means it is passed from parents to a child. Even if you do not have the symptoms of CF, or have been diagnosed with CF, you can still be a carrier for the disease and pass CF on to your child.

You can get tested to find out if you have the genes that cause CF, which may help as you think about having children. If you and your partner are both carriers of CF, it is more likely that your children will have CF.

If you and your partner both have CF, your child will have CF.  There are two types of tests that can help you find out if you are a carrier of CF, both of which are safe to take during pregnancy.

To find out if you are a carrier of CF, your doctor can:

• Take a blood sample, which will be tested for CF
• Take a swab sample of the cells inside your cheek, which will be tested for CF
• If you find that you or your partner have CF, or are a carrier of CF, you can talk to your doctor about getting a prenatal test to find out if your baby will have CF or be a CF carrier.  

There are many different ways to test for CF. These tests include:

• Blood tests. Also called newborn tests because they are often done when a child is born. This test will show if a newborn’s pancreas is working properly.
• Gene test. A gene test is also often performed at childbirth, and shows whether a newborn has the mutation (genetic, or inherited, change) that causes CF. 
• Sweat tests. If the newborn blood test or genetic test suggests CF, a baby’s doctor will use a sweat test to confirm the diagnoses. A sweat test takes a sample of your sweat and measures the amount of salt in it. A sweat test may be performed at any age, and does not only happen in newborns.

Monitoring tests

If you test positive for CF, you doctor may order other tests to monitor the progression of the illness. These other tests may include:

• Lung function tests, which will measure how much air you can breathe in and out, how strong your lungs are, and how fast they bring oxygen to the blood
• Chest x-rays, which will create a picture of your lungs and show whether the lungs are inflames, scarred, or trapping air
• Sinus x-rays, which will show if the sinuses are inflamed
• Sputum (spit) cultures, which your doctor will test for bacteria
• Sweat chloride test, which is the gold standard for CF diagnosis. Patients with CF have a higher amount of chloride in their sweat.

Although there is no cure for CF, there are many different treatments to help ease your symptoms, depending on the severity of your CF.

It is important to catch CF as early as possible so that you can begin treatment early.

Treatment goals

Treatment goals include:

• Getting rid of mucus in the lungs and other organs
• Stopping infections in the lungs and sinuses
• Giving your child a special diet and oral enzymes since they might not absorb nutrients from food the right way
• Preventing intestinal blockages and treating them as needed

Treatment options

Treatment options include:

• Medications, such as antibiotics, anti-inflammatories, and enzymes to help your digestive tract absorb nutrients
• Physical therapy to help loosen the mucus in the lungs
• Respiratory therapy for breathing techniques to help loosen the mucus in the lungs so you can cough it out, improve oxygen, and strengthen the lungs. Respiratory therapy can also strengthen the muscles used for breathing as well as involve inhaled medicines during treatment to help make breathing easier.
• Pulmonary rehabilitation programs, which are programs that can help reduce your symptoms with healthy lifestyle choices
• Vest therapy, which is where you wear a vest that vibrates to help loosen the mucus in the lungs
• Oxygen therapy, where you are given pure oxygen to inhale to help prevent high blood pressure in the lungs
• Bronchoscopy, which is where your doctor inserts a tube into your lungs to suck out the mucus
• In some cases, surgery may be needed if you get a severe intestinal blockage, or have nasal polyps that stop you from breathing
• In very severe cases, a lung transplant may be required. CF does not come back in the transplanted lung. If you have other symptoms, such as sinus infections or digestive problems, they might still remain after a lung transplant.

Because CF is a genetic disorder, there are no known prevention methods at this time. However, you may be able to have yourself tested to find out if you are a carrier of the disease, which will tell you whether or not you could pass this on to your child.

Cystic fibrosis [SIS-tic fye-BRO-sis] is a genetic disease that causes the mucus in the body, which is normally thin and slippery, to be thick and sticky. This can create problems with breathing and digestion. Although there is currently no cure, excellent treatment options exist.