Cystic fibrosis (CF) is a genetic condition that causes damage to the lungs and the digestive system.
In somebody without CF, the mucus that is produced is wet and slippery. It acts as a lubricant to make the movement of substances in and around the organs easier.
However, in a person with CF, the mucus is thick and sticky. Excess mucus build-up in the lungs, which sticks to the lungs and blocks up the airways.
The mucus can also reduce the ability of the lungs to expand and lowers oxygen absorption in the body. It can also build up in other areas of the body, such as the digestive system and pancreas.
In this article, you’ll learn about the causes, symptoms, diagnosis, and treatment options for cystic fibrosis.
What Causes Cystic Fibrosis?
Cystic fibrosis is a genetic condition. It follows a recessive inheritance pattern, meaning that for somebody to have cystic fibrosis, both of her parents must carry the gene.
Somebody can be a carrier of CF but if they don’t have two faulty genes (one from their mother and one from my father), they will not present with the condition. Often, adults carry the cystic fibrosis gene until they have already had a child.
The faulty gene is called the CFTR gene. This gene is responsible for the production of the cystic fibrosis transmembrane conductance regulator protein.
When the CFTR gene is faulty, the CFTR protein that is produced is also faulty. Usually, this protein helps the movement of chloride and other ions in and out of the cells in the lungs.
In cystic fibrosis, mutations in the CFTR gene and protein disrupt chloride movement and result in excess sticky mucus production.
What Are the Symptoms of Cystic Fibrosis?
The symptoms of cystic fibrosis can vary in severity from person to person.
Many individuals with CF can live relatively normal lives. They can attend school and social events, and they can live a great quality of life. Nowadays, adults with CF can live well into their 40s and 50s.
The most common symptoms of cystic fibrosis are:
- Wheezing and difficulty exercising
- Persistent cough with thick mucus, known as sputum
- Frequent lung infections
- Difficulties with digestion and bowel movements
- Infertility, particularly in males
- Diabetes or reduced insulin sensitivity
- Difficulty gaining weight of growing
- Intestinal blockages in newborns (known as meconium ileus)
- Excess salt in the sweat
- Reduced immune function
How is Cystic Fibrosis Diagnosed?
The earlier cystic fibrosis is diagnosed, the earlier the treatment and the better the prognosis.
Every newborn gets tested for cystic fibrosis using three tests:
- Blood test to check the levels of a protein called immunoreactive trypsinogen (IRT), which is higher in those with CF.
- DNA test to check for mutations in the CFTR gene.
- Sweat test that measures the amount of salt in the sweat. It will be higher in somebody with cystic fibrosis.
What Are the Treatment Options for Cystic Fibrosis?
Although there is currently no cure for cystic fibrosis, there are treatments available to reduce the severity of symptoms.
Here are the main medications that are used in the treatment of cystic fibrosis:
- Immune-boosting drugs to boost the function of the immune system and break up sputum
- Antibiotics to reduce the risk of lung infections
- Anti-inflammatory medications, such as corticosteroids and ibuprofen
- Bronchodilator medications, such as respiratory anticholinergics and beta 2 agonists.
- CFTR modulators that help to improve the normal function of the lungs. Sometimes, two to three CFTR modulator medications are used in combination to improve their efficacy
Alongside medications, a CF patient might be given supplemental oxygen. For oxygen therapy, they might be called into the hospital at regular intervals. Some patients are given one of the best portable oxygen concentrators to take home with them or to help them stay healthy on long trips.
Other techniques that can be used to clear the airways and reduce mucus are:
- Chest therapy or chest percussion, which involves tapping gently on the chest to help move mucus out of the lungs
- Oscillating machines that vibrate the chest to loosen up thick mucus and clear the lungs
- Physical therapy, where the patient will perform certain exercises to improve breathing technique and promote the breakdown of thick mucus
Are There Any Complications with Cystic Fibrosis?
As with every medical condition, there are complications that come along with cystic fibrosis. It’s a condition that can affect multiple organs in the body, so complications can be widespread.
Some of the most common symptoms are associated with the following organs of the body:
- Pancreas – thick mucus can block the pancreatic ducts, making it difficult for the pancreatic digestive enzymes to move into the intestines or for insulin to be released from the pancreatic beta cells. This can lead to problems with digestion and insulin resistance.
- Bladder – excessive coughing can cause the muscles of the bladder to become weaker. This can worsen over time.
- Kidneys – CF carries an increased risk of kidney stones and kidney infections, which can be painful, and may lead to nausea and vomiting.
- Liver – as with the pancreatic ducts, the ducts that enter and exit the liver can also become blocked, leading to liver damage or cirrhosis.
- Intestines – due to the decreased digestive enzymes reaching the small and large intestines, they can get damaged over time.
- Reproductive organs – in both men and women, excess mucus can impact the reproductive organs, leading to problems with fertility. The thick mucus can block the fallopian tubes or vas deferens, making it harder for a couple to conceive.
- Bones – CF is associated with an increased risk of osteoporosis, which is a disorder that causes the bones to become thin and brittle.
- Blood vessels – due to the changes in chloride movement in CF, blood pressure can reach higher than normal levels. This can damage the blood vessels over time.