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Diagnosis cystic fibrosis in case of long-lasting irritable colon?

Question
Hello,
I am 26 years old, female and have since about 8 years strong and increasing complaints concerning the digestion. These are getting more and more worse and express themselves in chronic obstipation, which is hard to treat inspite of the use of Macrogol and MCP (Metoclopramid) and I have strong flatulences. Furthermore, in the last years additionally phases with strong bowel obstruction occurred, that expressed themselves with pain, a strongly distended abdomen and retention of stool and they partly persisted for weeks. I am a bit underweight for still a long time, at the moment my BMI is 16,8. My sister also has problems with her digestion. Our blood-related cousine died of cystic fibrosis, our father could be a potential genetic carrier. Until now, my diagnosis is called simply irritable colon syndrome, however I am more and more worried and ask myself, if I should be tested for CF or if the diagnosis is very, very improbable.
Answer
Dear questioner,
like you describe your case, one should, in my opinion, also consider the illness of CF (cystic fibrosis) as a differential diagnosis (searching for the reasons for your complaints), at least in order to narrow down the possible causes and to exclude CF.
For this, as a first step a sweat test has to be performed and as a second step if applicalbe also a human genetic investigation. Both investigations are not burdensome for you and can be performed at short notice. The sweat test, however, should be performed at a certified CF-center that also offers a certified performance of the sweat test. There, also a decision about the second diagnostic step, namely the genetic analysis, can be taken together with you. For the performance of the sweat test, you need in general a letter of referral from your general practitioner.
[The following paragraph was not translated, as specific regional information about the available CF-centers in Germany was given, not relevant for the central English Archive].
Yours sincerely,
Yours
Dr. Christina Smaczny
15.08.2013