Understanding Cystic Fibrosis
Cystic fibrosis is a life-threatening, hereditary condition that affects more than 70,000 individuals around the world. An inherited genetic mutation causes a thick, sticky mucus to accumulate in many of the body’s organs, causing chronic health complications.
Who is at Risk of Inheriting Cystic Fibrosis?
Children born to parents who are both carriers of an abnormal CFTR gene have a 25% chance of inheriting cystic fibrosis. The CFTR gene is responsible for producing a protein called the cystic fibrosis transmembrane conductance regulator. This protein aids in the movement of water and salt between tissue cells responsible for the production of sweat, mucus, digestive enzymes, tears, and saliva by acting as a transportation channel.
When an individual inherits two copies of an abnormal CFTR gene, the function of this protein is compromised, causing mucus that is typically thin and free-flowing to become thick and very sticky. Thick mucus blocks airways and glands causing damage to many organs.
How Do I know if I’m a Carrier of Cystic Fibrosis?
According to the Cystic Fibrosis Foundation, 1 in 31 individuals in the US are symptomless carriers of cystic fibrosis. Because genetic carriers do not exhibit symptoms of the genetic condition, the only way to know if you are a carrier is to get tested.
Fortunately, parents who know that they have a family medical history of cystic fibrosis can choose to perform a genetic carrier screening. Genetic carrier screenings are conducted using a simple blood sample. This sample is used to detect more than 250 genetic disorders, including cystic fibrosis.
What are the Symptoms of Cystic Fibrosis?
It is important to note that the symptoms and the severity of the symptoms of cystic fibrosis vary for each individual. Not all individuals will experience the same symptoms or will experience the same symptoms to the same degree.
The most commonly reported symptoms of cystic fibrosis listed by the Cystic Fibrosis Foundation are:
● Persistent coughing (at times with phlegm) and wheezing and/or shortness of breath
● Salty-tasting skin
● Frequent lung infections including pneumonia or bronchitis
● Poor growth or weight gain in spite of a good appetite
● Difficulty with bowel movements, with stool being frequently greasy and bulky
● Male infertility
What are the Complications of Cystic Fibrosis?
Mucus typically serves as a protective agent against infections by lining the body’s organs. However, accumulation of thick mucus in the organs prevents this defense mechanism from functioning properly and causes serious, long-term health complications.
A buildup of mucus in the lungs constricts airways and fosters bacterial growth, which leads to infection. These complications eventually lead to respiratory failure. When mucus accumulates in the pancreas, it inhibits the release of digestive enzymes, affecting the body’s ability to properly break down food and absorb nutrients.
How is Cystic Fibrosis Diagnosed?
In the United States, all newborn children are tested for cystic fibrosis using either a genetic test that detects abnormalities in the CFTR gene or through a blood test that analyzes the functionality of the pancreas.
If either of these tests suggests that cystic fibrosis is present, doctors will then perform what is called a sweat test to confirm the diagnosis. This test is performed by triggering a sweat response on a small patch of skin. The sweat is collected and analyzed to measure the amount of salt present. A high amount of salt in the baby’s sweat will indicate cystic fibrosis.
If you or your partner have a family history of cystic fibrosis, speak to your doctor about the option of performing genetic carrier screening. Your doctor will be able to give you more information on genetic screening as well as what test results mean for you and your partner.