CF????

Question

Hello, I have a question. CF was detected in our family. I know I could be a carrier and I want to have that tested. My GP is aware of the problem. I asked him if it is possible that I could still get CF. I am 28 years old now and I have never had a complaint that is typical for CF. Now he says I can’t get it because I’ve never had any symptoms. Is that correct?

Answer

Dear Ecorn user,
When CF is detected in a family, other persons in the family should indeed be tested. Certainly all brothers and sisters of the patient and other family members who have complaints that may be a consequence of CF should be tested. In children the diagnosis should be excluded by performing a sweat test. Family members in the’ fertile age category’ should be tested for carrier status. If a carrier is detected it is important that his partner is being tested because in our countries the standard risk of being a carrier is rather frequent (in the order of 1/25 to 1/35 persons).
Your second question concerns if it is possible that you would still get CF at the age of 28 years if you didn’t have any symptom so far. CF is a congenital, hereditary disorder and you thus always have it since birth or you do not have it at all. In most patients symptoms occur from early age on but that is not uniformly so. In milder forms of the disease symptoms can only appear in young adults. It would however be uncommon to discover CF at the age of 28 years in a person who has never had any symptom suggestive of CF. There is one exception: you should know that there is a very specific form of CF in males that is only manifested by infertility because of absence of the vas deferens.
K. De Boeck, M. Proesmans, J. Dankert-Roelse

16.02.2009