Really CF???

Question

Dear expert team,
I am 30-years-old and suffer (allegedly) since my 17. birthday from therapy-resistant asthma. I have about two pneumonias every year without all the other infections. Now several times Pseudomonas has been detected and one speaks about a chronic colonization.
Now I have been at a university hospital (pneumology) to have a sweat test done. This has been positive two times. What shall I do? The pneumologist at the hospital said, a CF specific therapy would now begin for me. Should I really suffer from CF? What does Pseudomonas mean for my prognosis? I mean I am 30 years old and not a child anymore. Can a CF still be diagnosed at my age?

Openly speaking, I am really afraid of the diagnosis. One always hear about CF patients, who are undergoing a lung transplantation and depend on oxygen. Can one suffer from therapy-resistant asthma and CF?

Best regards,

Answer

Dear questioner,

you sound really worried and one can understand this, as you now do not know "what's going on". Your question comprises many little questions and is over all too difficult, so that it can not be totally and satisfyingly answered via the internet. Therefore, you should make an appointment soon at a CF-center for adults, in order to clarify in detail, what your findings mean for you. The recommendation to make this appointment soon, has primarily nothing to do that we were worried about the severity of your illness, however it is important to address your questions as soon as possible, so that you can calm down again and if necessary you could get a corresponding therapy and medical care.
In general it is like this, that in case of a positive sweat test result the patient is invited in parallel to the information about the result at a CF center to have a clarifying talk. At this talk, the result of the sweat test is chekced for validity, the CF physician gets informed about all results and decides about the necessity of further diganostics and makes himself a picture of the overall situation after he got personally in contact with the patient. Only then the diagnosis can be made and a decision can be made about the ongoing procedures.
I hope, that you can get such a personal informational talk, soon, so that you are not left alone with your worries and that they can be solved again. "At night, all cats are black", however if one brings light into the ignorance, one can see clearer again.

Nevertheless I would like to make comments on some of your questions concretely:
1. You ask, what you should do, after the sweat test had been positive two times. I already gave you an answer on this above. Here I repeat: a soon appointment at a CF center for adults is very important. As I do not know where you life, I can not recommend you a specific CF center, however you can find addresses on the internet page of the German patient organization Muko.eV. Here is the link:
muko.info/leben-mit-cf/adressen.html
2. You want to know, if you are really suffering from CF and if the diagnosis can also be made at your age of 30 years. The first part of the question can not be answered via the internet unambiguously. However, it is like this, that the sweat test is the gold-standard for the diagnosis of CF. In cases of doubt, the result of the sweat test is confirmed by a mutation analysis (genetic testing from the blood, as CF is a genetic disease). The answer to the second part of the question is: yes, the diagnosis of CF can also be made at adult age, even if one has the disease from birth on due to the genetic origin. As there is no CF-screening in Germany up to now (screening of all newborns for CF), the diagnosis can sometimes be made only at older age, especially in case of less severe cases.
3. You ask, if now a CF therapy is going to be initiated. The therapy depends on the symptoms and on the results. An adequate therapy could be of advantage for you and could relieve your complaints.
4. You want to know, which meaning the germ Pseudomonas aeruginosa (PA) has for your prognosis. Every germ and also the PA can lead to a worsening of the course of the illness due to recurrent infections. The PA germ is quite a typical germ for CF, especially at adult age (about 85% of all adult CF patients have PA chronically in the lung). With a targeted antibiotic therapy, that has improved dramatically during the last years (not only oral and intravenous but also inhalative antibiotic therapies) the inflammation due to PA can be in generally be controlled. This has as a consequence the stabilization of the health status and the improvement of the longterm prognosis. Also here it can come to an improvement of your course of the illness due to a targeted therapy of the PA infection.
5. At the end your wanted to know, if one could have two diseases, asthma and CF. This is possible but often it is like this that an illness had a false name for many years. If one has finally come to the right name of the illness (reassurement of the diagnosis) the chances for a successful therapy are of course much better.

I hope to have helped you with my remarks,
Yours sincerely,
Dr. med. Christina Smaczny

17.04.2015