Table of ContentsView AllTable of ContentsCystic FibrosisHow Common Is It?By EthnicityBy Age and GenderCausesMortality RatesScreening
Table of ContentsView All
View All
Table of Contents
Cystic Fibrosis
How Common Is It?
By Ethnicity
By Age and Gender
Causes
Mortality Rates
Screening
Cystic fibrosisis a genetic disorder in which a faulty gene causes the mucus in the body to become thick and sticky, not slippery like it is supposed to be. The thick mucus can build up in organs in the body, which can cause many problems.
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.
Kemal Yildirim / Getty Images
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 theCFTRgene. 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:
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 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.
Cystic fibrosis screenings are done as part of the newborn screening program, so infants are diagnosed shortly after birth if they have the gene mutation.
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
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.
What Are the Mortality Rates for Cystic Fibrosis?
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 thenewborn screening programthat 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.
6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cystic Fibrosis Foundation.About cystic fibrosis.MedlinePlus.Cystic fibrosis.Scotet V, L’Hostis C, Férec C.The changing epidemiology of cystic fibrosis: incidence, survival and impact of the cftr gene discovery.Genes (Basel). 2020;11(6):589. doi:10.3390/genes11060589Somayaji R, Chalmers JD.Just breathe: a review of sex and gender in chronic lung disease.European Respiratory Review. 2022;31(163). doi:10.1183/16000617.0111-2021Turcios NL.Cystic fibrosis lung disease: an overview.Respiratory Care. 2020;65(2):233-251. doi:10.4187/respcare.06697Cystic Fibrosis Foundation.Carrier testing for cystic fibrosis.
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Cystic Fibrosis Foundation.About cystic fibrosis.MedlinePlus.Cystic fibrosis.Scotet V, L’Hostis C, Férec C.The changing epidemiology of cystic fibrosis: incidence, survival and impact of the cftr gene discovery.Genes (Basel). 2020;11(6):589. doi:10.3390/genes11060589Somayaji R, Chalmers JD.Just breathe: a review of sex and gender in chronic lung disease.European Respiratory Review. 2022;31(163). doi:10.1183/16000617.0111-2021Turcios NL.Cystic fibrosis lung disease: an overview.Respiratory Care. 2020;65(2):233-251. doi:10.4187/respcare.06697Cystic Fibrosis Foundation.Carrier testing for cystic fibrosis.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Cystic Fibrosis Foundation.About cystic fibrosis.MedlinePlus.Cystic fibrosis.Scotet V, L’Hostis C, Férec C.The changing epidemiology of cystic fibrosis: incidence, survival and impact of the cftr gene discovery.Genes (Basel). 2020;11(6):589. doi:10.3390/genes11060589Somayaji R, Chalmers JD.Just breathe: a review of sex and gender in chronic lung disease.European Respiratory Review. 2022;31(163). doi:10.1183/16000617.0111-2021Turcios NL.Cystic fibrosis lung disease: an overview.Respiratory Care. 2020;65(2):233-251. doi:10.4187/respcare.06697Cystic Fibrosis Foundation.Carrier testing for cystic fibrosis.
Cystic Fibrosis Foundation.About cystic fibrosis.
MedlinePlus.Cystic fibrosis.
Scotet V, L’Hostis C, Férec C.The changing epidemiology of cystic fibrosis: incidence, survival and impact of the cftr gene discovery.Genes (Basel). 2020;11(6):589. doi:10.3390/genes11060589
Somayaji R, Chalmers JD.Just breathe: a review of sex and gender in chronic lung disease.European Respiratory Review. 2022;31(163). doi:10.1183/16000617.0111-2021
Turcios NL.Cystic fibrosis lung disease: an overview.Respiratory Care. 2020;65(2):233-251. doi:10.4187/respcare.06697
Cystic Fibrosis Foundation.Carrier testing for cystic fibrosis.
Meet Our Medical Expert Board
Share Feedback
Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit
Was this page helpful?
Thanks for your feedback!
What is your feedback?OtherHelpfulReport an ErrorSubmit
What is your feedback?
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts.Cookies SettingsAccept All Cookies
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts.
Cookies SettingsAccept All Cookies
