How Common Is Cystic Fibrosis?

Cystic fibrosis (CF) is a genetically inherited disease that causes persistent lung infections and makes it difficult to breathe. While primarily affecting the lungs, it can also impact the digestive system, including the pancreas, liver, intestines, and kidneys. CF may also affect the ears, nose and sinuses, sex organs, and the bones and joints.^1,2

How common is cystic fibrosis?

Cystic fibrosis is one of the most common genetic disorders in white people in the United States, occurring in one of every 3,200 live births. It is less common in African Americans (1 in 17,000), Asian Americans (1 in 31,000) and Native Americans. While still unusual in Hispanics, it is increasing in prominence over time (1 in 4,000 to 10,000).^3,4

• More than 30,000 children and adults in the United States are living with CF.
• Another 70,000 people with CF live in other countries.
• CF occurs equally in men and women.
• Approximately 1,000 new cases of CF are diagnosed each year.

Who gets cystic fibrosis?

People with CF have inherited two copies of a mutated CF gene, meaning each parent was a carrier for CF. In the U.S., one in every 31 carries a mutation of the CF gene.⁵ Called the cystic fibrosis transmembrane conductance regulator (CFTR) gene, this mutation prevents the CFTR protein from working properly. There are more than 1,700 known mutations of the disease.⁶

People with only one copy of the defective CF gene are called carriers, and they do not have the disease. Each time two CF carriers have a child, the chances are:

• 25 percent (1 in 4) the child will have CF
• 50 percent (1 in 2) the child will be a carrier but will not have CF
• 25 percent (1 in 4) the child will not be a carrier and will not have CF⁶

Life expectancy has increased substantially in the last 20 years, rising from age 31 in 1997 to age 44 in 2017. As of 2017, the U.S. states with the largest numbers of people living with CF are California (2,386), Texas (2,048), New York (1,644), and Florida (1,599).⁶

Cystic fibrosis is most common among Caucasians. In the U.S., the chances of being a carrier of a CFTR mutation are:

• 1 in 29 Caucasian-Americans
• 1 in 46 Hispanic-Americans
• 1 in 65 African-Americans
• 1 in 90 Asian-Americans

The cystic fibrosis population

The Cystic Fibrosis Foundation estimates that:

• More than half of people with CF are age 18 or older.
• More than 75 percent of people with CF are diagnosed by age 2.
• 51 percent of adults with CF hold down jobs.
• 31 percent of adults with CF have a college degree.⁶

The history of CF

As early as 1595, writings suggested that there were children who likely had CF. The salty skin of babies with CF is so distinctive that an ancient folk saying from Northern Europe is: “Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.”⁷

In the 1930s, doctors in Switzerland the U.S. described “cystic fibrosis of the pancreas” and cystic fibrosis was officially recognized as a disease. In the 1950s, life expectancy averaged a few months. Today, people with CF who reside in developed countries live into their 40s and longer.⁸

The future of CF

The general public generally believes many myths and misconceptions about cystic fibrosis, including that it impacts mostly boys or that people with CF die as children. By improving airway mucus clearance and controlling lung infections, cystic fibrosis has changed from being mostly a childhood disease to a predominantly adult disorder. This is not because it is becoming more common, but because people with cystic fibrosis are living longer than ever before.

In fact, the number of adults with CF in Europe is predicted to increase by about 70 percent by 2025.⁸