How would I benefit from the diagnosis of CF?

Question

Hello,
my physician assumes an atypical CF. I have an exocrine pancreatic insufficiency for years (elastase: 65), partly increased blood sugar. Even after removal of the gall bladder I still had gallbladder sludge in the bile duct. Now a fat liver has to be added, even if I do not eat food rich in fat nor in carbohydrates (due to the pancreas) or have otherwise any risk factors. In addition, I have a problem with salt. I have to eat enough salt at each day, now in the summer have to take additional salt tablets, as I am doing very bad otherwise. In addition, I have constipation regularly. Until now a chronic pancreatitis has been suspected. I am 40 years old, female, BMI 19.2. Medication: Pangrol® 40.000 (containing amylase, lipase, protease) at each meal, ursodeoxy cholic acid 400: 3x1, tramadol if needed, at the moment salt tablets.
I have been in hospital two weeks ago, due to strong upper abdominal pain. My physician in charge there said, that I should see a human genetic specialist, due to suspicion of atypical CF. At a rehabilitation two years ago the doctors there also expressed this suspicion.
My question: What is the good of the diagnosis atypical CF for me? As as far as I read, this cannot be treated (except for the drugs I already take) and I know that this genetic test is very expensive for the health insurance.
Many thanks for your efforts!
Best regards,
Maria G.

Answer

Dear questioner,

a suspicion of CF can and should primarily be verified with a sweat test. The second step is the human genetic investigation. You ask, which advantages would bring a verification of a CF-diagnosis for you. Firstly it has to be said, that the illness that you have will probably get a "name". Due to this, probably the different symptoms, results and changes in your body can be interpreted and treated better. Organ systems that could be affected by the illness in case of CF, could be monitored better in order to assess changes early and to react to them adequately.
An example from the area of antibiotic therapy can also show the advantages of an ascertainment of the diagnosis: in general, CF patients need higher antibiotic dosages, in order to get a efficiency. Antibiotic dosages, that are given in non-CF patients, could be ineffective in CF-patients.
In the era of individualized therapy it comes in addition, that in case of CF already the first mutation specific drug has become market authorization. This means, that patients with a certain mutation can be treated correspondingly more targeted. Research activities in this field promise new drugs, that can be used successfully depending on the underlying mutation.
Last but not least it has to be pointed out in connection to your question that CF as a genetic disease can indeed have a meaning in case of family planning.
Independently of all above mentioned points the sweat test and a human genetic analysis (probably with an additional measurement of the potential difference of the nasal mucosa and probably a rectum biopsy) could exclude the illness of CF in your case, or as very improbable confirm it. For this possible result the diagnostics seem to be very sensible in my opinion.
Yours sincerely,
Dr. Christina Smaczny

19.08.2013