Cystic fibrosis affects over 30,000 people in the U.S and over 70,000 all over the world. It is a progressive lung and digestive disease that can be life threatening. Many people refer to the term “CF” and require lifelong treatment for the disease. The majority of cystic fibrosis cases only survive into their teens to 20’s, but a small amount of people with CF may live up mid-life. Read on to learn more about cystic fibrosis and how it is managed.
Cystic fibrosis is a genetic disease that causes excess mucus production in the lungs and digestive system. The genetic defect makes the mucus thicker than normal and it tends to stick and clog airways and drainage ducts in the body. It mostly affects the pancreas and the lungs, but other areas of the body can be affected.
The most common affected organ is the lungs. The thick and sticky mucus can block the airways making it hard for sufferers to breathe. There is always trapped bacteria resulting in frequent infections. This can damage lung tissue and the most common cause of death due to respiratory failure.
Secondly, the pancreas is affected because thick mucus blocks the ability to secrete needed enzymes that aid with digestion and absorption of nutrients. This often leads to delayed growth in children due to malnourishment.
The known cause of cystic fibrosis is a genetic defect in the CFTR gene. This gene is responsible for the CFTR protein that helps your body move salt and water through the cells. When this gene is defective, the salt is moved to the skin and less is deposited inside the body. Salt attracts water, therefore not enough gets into the secretions and this causes them to become very thick and sticky.
Symptoms of Cystic Fibrosis
The biggest clue to cystic fibrosis is salty skin. This is because the disease causes the body to deposit more salt in the sweat than normal. The other common symptoms include:
Chronic Cough and Wheezing. Cystic fibrosis causes the mucus to become very thick and sticky. It clogs up the airways and is very hard to clear.
Stuffy Nose. Both thickened mucus and polyps in the sinuses and nose can cause a chronically stuffy nose and increased cases of sinus infections in CF.
Frequent Respiratory Infections. Thick mucus can trap bacteria in the respiratory tract leading to more upper and lower respiratory tract infections in CF sufferers.
Shortness of Breath. This is due to the airways getting clogged with mucus and reducing the airflow to and from the lungs.
Reduced Exercise Tolerance. Not only does reduced lung function affect the ability to exercise, but also increased inflammation and muscle weakness. While this is a symptom, exercise is still important to CF patients.
Fatty, Foul-Smelling Stools. This is due to a lack of digestive enzymes normally secreted by the pancreas.
Slow Weight Gain and Slow Growth. Not enough digestive enzymes, plus mucus in the intestines reduces nutrient absorption.
Constipation and Intestinal Blockage. These symptoms have a few different factors. First, the thick intestinal mucus slows down the movement of stool through the intestines. Next, pancreatic supplements are strongly believed to be constipating. Lastly, people with CF have high levels of inflammation in the intestines.
There are some common risk factors for cystic fibrosis including:
Race. CF is found more often in Caucasians from Northern Europe, Native Americans, and Hispanics. It is not seen as often in African American and Asian populations.
Family History and Genetics. The defective gene for CF runs in families. Cystic fibrosis is inherited when both parents have one copy of the defective gene. If the child inherits only one they are considered a carrier and can pass the gene on to their children. If the child inherits both copies, one from each parent they will develop cystic fibrosis.
The good news is that hospitals check babies at birth for CF. The hospital will check for trypsinogen, a chemical that comes from the pancreas. In CF, the levels are high. This test can be abnormally elevated, so other tests will be ran to confirm the diagnosis including:
Salt Testing. The skin is checked for abnormal levels of salt in the sweat. This test is usually run when the baby is around one-month of age in order to be accurate since newborns do not sweat much.
Genetic Tests. The parents and baby can be swabbed on the inside of the mouth or blood tests to look for the defective CFTR gene.
Regular Testing For CF Patients
After the diagnosis of cystic fibrosis is made, you will need to have regular testing to see how your body is doing. The following tests are performed on a regular basis:
Tests for infection (blood and sputum)
Blood testing for pancreas function
Lung function testing (Spirometry that tests how much air you can move in and out of the lungs, Total lung volume, and residual volume)
Blood tests for liver function
Diabetic testing after the age of 10 (This is due to the pancreas not making enough insulin due to cystic fibrosis. Screening is important because CF patients often do not have any symptoms of diabetes.)
The treatment for cystic fibrosis involves keeping the airways clear, preventing and treating infection, and improving nutrient absorption. These treatments include:
Keeping Airways Clear. Known as “airway clearance techniques” or ACT. This helps to keep the airways clear of thick mucus. Postural drainage and percussion is taught to patients and their caregivers. It involves cupping the hand and “clapping” on the back. They can also prescribe a mechanical vest that vibrates the mucus to help loosen it.
Inhalers. Bronchodilator medications that are inhaled can help open up the airways for easier breathing. They are usually given via metered dose inhaler or a nebulizer machine. There are also inhaled medications that can help thin out thick mucus.
Antibiotic Therapy. These may be used to treat active infections via oral or intravenous. They can also be given via nebulizer treatment. Some patients may require a special intravenous line for antibiotics called a, PICC line. This will help preserve delicate veins when multiple treatments are needed.
Digestive Enzymes. Pancreatic enzymes may need to be given to help aid in the digestion and absorption of food.
Dietary Changes. A dietitian may need to design a special diet to make sure children get enough calories and nutrition for proper growth. This may even require a feeding tube.
Cystic fibrosis can be easily managed with healthy lifestyle changes including:
A healthy nutritious diet
Stay away from cigarette smoke
Prevent infection with good hand washing
Get Regular exercise
Drink plenty of fluids
Researchers have found that CF patients benefit from increased supplementation of antioxidants. Both food sources and supplements have proven to be helpful to the quality of health. Lungs that have CF do not contain enough antioxidants so supplementation may help decrease the inflammation and number of infections. There are ongoing studies on the antioxidant, glutathione.
Make sure you check with your doctor before using any alternative medicine remedy for cystic fibrosis.
Cystic fibrosis, even with good treatment can result in complications including:
Pneumothorax (collapsed lung)
Coughing up blood
Nasal and sinus polyps
Children that have CF can usually lead normal lives until they are adults. With proper treatment, many go to school and participate in many activities. As they get older, some can even go to college and even work.
The disease is most severe during the 20’s and early 30’s as the lungs become damaged. On average, most CF sufferers live to about age 37. The cause of death from CF is most often complications with the lungs.
Currently, the stem cell researchers associated with Harvard are looking into developing a drug for CF. This involves stem cells from the patient with CF that they can possibly make into a drug that bypasses the genetic defect and helps the lungs form healthy tissue. Research is ongoing.
Some studies have shown that non-steroidal anti-inflammatory drugs may be helpful in reducing inflammation in CF patients. While the chronic use of these drugs can have side-effects, doctors are looking into the benefits outweighing the risks. Studies are ongoing to see if this will be an effective treatment.
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