Cystic fibrosis is a genetic disorder that impacts around 35,000 individuals in the United States. Modern treatment options have increased life expectancy for those with cystic fibrosis, allowing them to live a regular lifestyle — which, for some, includes becoming a parent. In this article, we’ll explore how cystic fibrosis impacts fertility.
Key takeaways
- Cystic fibrosis is a recessive genetic disease that causes the body to produce thick, sticky mucus, impacting the respiratory, digestive, and reproductive symptoms.
- Most men with cystic fibrosis have a blocked or missing vas deferens, resulting in male-factor infertility.
- Individuals who want to have biological children can explore testicular sperm retrieval options to pursue in vitro fertilization.
What is cystic fibrosis?
Cystic fibrosis is a genetic disease that primarily affects the lungs but can also have a long-term impact on the digestive and reproductive systems. It is characterized by a buildup of thick, sticky mucus.
This disease affects the cells that produce mucus, sweat, and digestive juices. These fluids are usually thin and slippery, which allows them to serve as protection and a natural lubricant. However, for people with cystic fibrosis and the CFTR gene, these fluids are thick and sticky. As a result, they block important passageways in the body, leading to a host of symptoms.
What causes cystic fibrosis?
Cystic fibrosis is an inherited disease caused by a defective gene. Children with cystic fibrosis inherit the mutated CFTR gene from both parents. Because the CFTR gene is recessive, individuals who only inherit the defective CFTR gene from one parent do not develop cystic fibrosis. However, they can be a carrier and therefore pass the mutated gene on to their children in the future.
Mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause issues with the CFTR protein, which helps maintain the balance of salt and water in the body. The resulting imbalance is what leads to the characteristic thick, sticky mucus. Because there are many different ways the CFTR gene can mutate, the combination and severity of symptoms varies from person to person.
How cystic fibrosis affects the body
Cystic fibrosis most commonly affects the respiratory, digestive, and reproductive systems. There are some adjustments that individuals with cystic fibrosis can make to their lifestyle to address and minimize the impact of these symptoms.
Cystic fibrosis, eating, and nutrition
The mucus that clogs the airways can also block the tubes that carry important digestive enzymes from your pancreas to your small intestine. The digestive symptoms of cystic fibrosis include:
- Greasy, smelly stools
- Poor weight gain and growth
- Intestinal blockage
- Chronic constipation
When the enzymes needed for digestion are blocked, you are more likely to become malnourished. As a result, individuals with cystic fibrosis may need to consume a higher-calorie diet, eating frequently throughout the day to maintain a healthy weight. Vitamins can supplement food to provide many important and necessary nutrients.
Cystic fibrosis and exercise
Thick, sticky mucus, commonly clogs the tubes that transport air in and out of the lungs of cystic fibrosis patients, resulting in the following symptoms:
- Persistent cough
- Wheezing
- Exercise intolerance
- Repeated lung infections
- Stuffy nose
- Recurrent sinusitis
Maintaining a regular exercise routine can help to loosen the mucus that blocks the airways in your lungs, in addition to improving overall health of the heart and lungs. The impact of physical activity on mental health can also provide relief for the emotional challenges of having a chronic disease.
While maintaining an active lifestyle is recommended, individuals with cystic fibrosis should avoid certain sports, including scuba diving, skydiving, bungee jumping, and high-intensity exercise at high altitudes.
Cystic fibrosis and the immune system
White blood cells protect the body by launching an immune attack against any foreign invaders, including viruses, bacteria, parasites, and fungi. Inflammation occurs as part of the body’s immune response, which includes sending more blood to the affected tissue.
This inflammation can lead to more mucus than usual, which can cause additional challenges for individuals with cystic fibrosis. Those with cystic fibrosis may be at a higher risk of developing complications and infections from common viruses as the thick, sticky mucus traps the germs in the airways and lacks the same infection-fighting properties as normal mucus.
Cystic fibrosis and fertility
Roughly 98% of men with cystic fibrosis face male-factor infertility because the vas deferens — the tube that carries the sperm and connects the testes and prostate — becomes blocked or is completely absent.
While sperm production continues as usual in most individuals with cystic fibrosis, the sperm are unable to make it to the semen, resulting in azoospermia. Although most men are infertile, some do have sperm present in their ejaculate. Individuals should receive a semen analysis to confirm if they do or do not have sperm present.
How is cystic fibrosis treated and managed?
While there is currently no cure for cystic fibrosis, affected individuals are generally able to live normal lives. Proper treatment eases symptoms, thus reducing complications and improving quality of life.
Airway clearance techniques loosen the mucus that gets caught in the airways. These techniques can include special ways of breathing and coughing, using therapeutic devices that apply vibrations to loosen mucus, and physical therapy for the chest.
There are also several medications that individuals can use to manage their symptoms. These include antibiotics to treat and prevent lung infections, anti-inflammatories to reduce swelling in the airways, and mucus-thinning drugs to expel the thick mucus and improve lung and digestive functions. Stool softeners, enzymes, and acid-reducing drugs can also directly address digestive issues caused by cystic fibrosis.
In certain advanced cases, surgery can be recommended to alleviate symptoms. A lung or liver transplant may be required for those who have more acute damage and advanced lung disease, respiratory failure, or cirrhosis.
Trying to conceive with cystic fibrosis
As individuals with cystic fibrosis live longer due to medical advancements, many may want to plan to start a family. Assisted reproduction options are available for those who want to have biological children, since individuals with cystic fibrosis typically still produce sperm.
There are several procedures — microepididymal sperm aspiration (MESA), percutaneous epididymal sperm aspiration (PESA), and testicular sperm extraction (TESE) — that can extract the sperm directly from the testes to be used for in vitro fertilization.
Frequently asked questions about cystic fibrosis
Does cystic fibrosis cause infertility?
Yes, cystic fibrosis can lead to male-factor infertility. Infertility impacts 98% of men with cystic fibrosis due to missing or blocked vas deferens. A semen analysis can confirm if there are any sperm present in a semen sample.
How can I find out if I’m a carrier for cystic fibrosis?
Cystic fibrosis is an inherited disease. As a result, individuals with a history of the disease in their family may be interested in genetic testing for cystic fibrosis, to understand the risk of passing it onto their child. A simple blood test can screen for the most common CFTR gene mutations and determine whether you are a carrier.
I’m a cystic fibrosis carrier. What’s next?
A carrier is someone who only inherited one mutated CFTR gene and, as a result, it does not have any impact on their health. If you find out you carry a mutated CFTR gene through genetic testing for cystic fibrosis, your partner should also receive carrier screening to determine the chances of your child having cystic fibrosis. Genetic counseling can provide more detailed information to help you and your partner determine the best course of action.