It is estimated about 40,000 people in the United States live with cystic fibrosis. This article will review the diagnosis of cystic fibrosis, who gets it, and how it can be diagnosed.
Cystic Fibrosis Overview
In cystic fibrosis, mucus in the body is much thicker and stickier than it is supposed to be, because of a genetic mutation in the CFTR gene. This gene prevents sodium from moving through the cells like it is supposed to, which also affects how water moves.
Because of this, the cells that line organs such as the lungs, pancreas, and intestines have mucus that is thick rather than thin and slippery. Thick mucus can cause blockages and clog the organs. This prevents the organs from functioning normally, leading to:
Difficulty breathing Frequent lung infections Permanent lung damage Pancreatic failure Diabetes (a chronic condition of high blood sugar) Gastrointestinal problems such as diarrhea, weight loss, malnutrition Fertility problems
Cystic fibrosis is often diagnosed in childhood. The complications from cystic fibrosis can lead to decreased life expectancy.
How Common Is Cystic Fibrosis?
In the United States, one in 4,000 babies are born with cystic fibrosis, most commonly among people of Northern European heritage. The incidence has decreased, possibly due to increased screening for cystic fibrosis and genetic testing that allows people to assess the risk to their offspring and make reproductive decisions.
Cystic Fibrosis by Ethnicity
Cystic fibrosis is most often diagnosed in those of European descent. There are some areas of the United States, specifically an Amish community in Ohio, where the incidence of cystic fibrosis is diagnosed in 1 out of every 569 births.
More statistics from a 2020 paper are included in the following table, which reflects how prevalent it is in different populations.
It is diagnosed equally in people of any sex. However, studies have found that females have a more aggressive course with cystic fibrosis than males do, though the reason for this is not fully understood.
Causes of Cystic Fibrosis
Cystic fibrosis is caused by a mutation in the cystic fibrosis transmembrane receptor (CFTR) gene protein. The condition is present at birth.
Its inheritance is in an autosomal recessive pattern. Autosomal means the gene mutation is on a chromosome other than X or Y, while recessive means it takes two copies of the mutated gene to produce cystic fibrosis. Neither parent may have the condition themselves because they have only one copy of the mutated gene, and the other copy is functional.
The gene alters the way sodium, and thereby water, is regulated in the cells of the body. When this happens, the mucus that is supposed to be thin and watery is instead thick and sticky. This then causes dysfunction in multiple areas of the body.
What Are the Mortality Rates for Cystic Fibrosis?
There is no cure for cystic fibrosis. Those living with cystic fibrosis will likely have a reduced life expectancy because of it. However, life expectancy has increased significantly as there has been better screening and understanding of the disease, as well as improved treatment options, including drugs that address problems caused by the faulty CFTR gene.
Previously, cystic fibrosis was often fatal during the first year of life. In 2016, those living with cystic fibrosis in the United States had an average life expectancy of 47.7 years, and this is expected to increase. The main cause of death related to cystic fibrosis is progressive lung disease and respiratory failure.
Screening and Early Detection
Cystic fibrosis testing is done as part of the newborn screening program that babies in the United States undergo. However, it was not a routine screening test until 2010, and some may be diagnosed outside of infancy.
If the newborn screening test is positive for cystic fibrosis, additional testing will likely be done. These tests can include sweat chloride testing as well as a blood test to specifically check for the genetic mutation.
Adults without cystic fibrosis can have a genetic test to detect the cystic fibrosis gene. Couples who each have one copy of the gene may consider this in their reproductive options. Each child would have a 25% chance of being born with cystic fibrosis and a 50% chance of having one copy of the gene.
Summary
Cystic fibrosis is a disease in which a genetic mutation causes a change in the normal process of sodium transport in the cells of the body. This causes the mucus in the body to become thick and sticky, causing build-up and eventual damage to the organs.
Routine newborn screening tests include cystic fibrosis so it can be detected early and treated. Though there is no cure, treatment advances have significantly improved the life expectancy of those living with cystic fibrosis.
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