Health Risks For Cystic Fibrosis Carriers

3 min read

Cystic fibrosis (CF) is a genetic disease caused by two mutated copies of a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). CF carriers have one mutated copy of CFTR. The non-mutated copy allows them to live without CF.^1,2

Most carriers do not have symptoms of CF. However, some say they have mild symptoms. New research shows CF carriers have a higher risk for CF-related issues. Because of this, CF screening is encouraged, especially for those with family members with CF or those wanting to start a family. Knowing your CF carrier status can help you understand your health risks so you can take care of yourself.^1-3

CF carrier genetics

Genes contain our genetic program. Each gene has two copies: one from your mom and one from your dad. Genes can mutate which causes them to malfunction. One mutated copy of a gene is not usually a problem as long as the other copy is normal. If both copies of CFTR are mutated, you have CF. If one copy is mutated, you are a CF carrier.²

Risks of being a CF carrier

A 2020 study compared 19,802 CF carriers to 99,010 healthy non-carriers. They assessed the risk for getting 59 different health problems. CF carriers have a higher risk for 57 of 59 conditions. Most of these are the same conditions that affect people with CF. However, the following higher-risk conditions for CF carriers were previously unknown:^1,2

Constipation
Type I and secondary diabetes
Gallstones
Failure to thrive (infants)
Jaundice
Scoliosis

CF carriers are also more likely to have health problems that affect more than one organ system.² The more common a CF condition is, the more common it is in CF carriers. For example, some people with CF may have diarrhea, but lung infections are more common. Therefore, the risk of lung infections in CF carriers is higher than for diarrhea.²

Risk versus probability

This study points out that CF carriers are somewhat more likely than non-carriers to have certain health issues. However, the probability that you will actually get one of these conditions is still very low. For example, the study shows CF carriers have a higher risk for pancreatitis. Yet, the number of CF carriers who actually get it is less than 1 in 100.²

Symptomatic CF carriers

Most CF carriers do not have symptoms, but some do. Symptoms are not as bad for carriers are they are for people with CF. Symptomatic CF carriers could feel any number of mild CF symptoms. This is because the CFTR gene can be mutated in 1,700 different ways. Different mutations can affect each organ system in unique ways.^1-4

Informed health decisions

The study highlights possible health risks for CF carriers. This can help CF carriers make more informed health decisions. Your doctor may do more health screenings. You may need to make lifestyle changes. For example, your CF carrier status may prompt your doctor to recommend dietary changes since you could have a higher risk for gall stones.²

Family planning and genetic counseling

If you are planning to start a family, the American College of Obstetrics and Gynecology (ACOG) recommends CF carrier screening. If you, your partner, or both of you carries a mutated CFTR gene, a genetic counselor may be assigned to help you understand what your baby’s risks are.⁵

CF carrier test

You will need a CF carrier test. Your doctor will either take a blood sample or swab the inside of your cheek. If you have a mutated copy of the CFTR gene, your doctor will be able to find it easily.

Learn more about what it means to be a CF carrier.

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CommunityMemberac9baf Member
I finding some articles about CF carriers experiencing some symptoms. Up until recently it was thought only those with two copies had symptoms. I’m 58 yo female carrier with a sibling with CF. In the last 18 months i dropped weight and stools were floaty and GI dr asked for stool sample. Result wasI lacked pancreatic enzymes. Cat scan clear. Colonoscopy and endoscopy clear. Random samples from those procedures came back clear. They tell me I have EPI. I’m wondering…could this really be from being a carrier or should we be digging deeper?
1. corenepettit Community Admin
 <inline-mention username="CommunityMemberac9baf" user-id="8613146"/> That's interesting! Thank you for sharing part of your story with us. It's always hard to know for sure since every person is different. I would encourage you to talk with your doctor more about it. Keep us posted! Warmly, Corene (team member)
Rainor885 Member
Me and my girlfriend have been trying for a baby they tested my sperm they told me 99 percent is dead and 1 percent is swimming slow and backwards, the dr said she’s 99 percent certain I carry the cf gene, she said I we conceive naturally and have a boy, he will have cf is this true, we’ve had 3 miscarriages in 7 months, she says it’s 50 50;if it’s a boy, and highly probable it will have it, is she correct
Gail Member
See, I don't quite agree with the statement "your doctor will be able to find it easily." I'm not a carrier, but I do have CF. The mutations that I have are polar opposites in terms of rarity; one is the most common, and the other has only 200 people in the world with it. When I was diagnosed, it took months for me to get diagnosed definitely, so I don't think that all carriers would easily be identified. Sorry for the mini rant. Stay Healthy <3
1. Beth.Huffman Community Admin
 <inline-mention username="Gail" user-id="8885653"/> Thanks for feeling comfortable and sharing with us. It sounds like you have been through so much with your CF journey. How are you feeling today? Please don't ever apologize for sharing or, as you called it, "ranting" our community is always here for you, and we're grateful you can share your experiences. Have you ever written and shared more with our members? Sending you positive thoughts and vibes! -Beth (Team Member)