Late detection

Question

Hello,
My brother has been found to have cystic fibrosis. He is 48 years old. He seems to have a liver problem with a high value of gamma GT. Is this possible? What is his life expectancy? Is there a cure? Where can he be well be treated (he lives near Lorient in Brittany)? Should we be tested (siblings, our children, his children ...)?

Answer

Hello,
Yes it is possible to diagnose cystic fibrosis at a late age, especially when the pancreas is working. The diagnosis is then often made because of recurrent bronchitis and the discovery of bronchiectasis. I don’t know if this is the case with your brother.
The liver damage is common in cystic fibrosis, due to a thickening of secretions in the small bile ducts of the liver. This is what may reflect the increase in gamma GT, which is not a problem to a certain level. A very small proportion of patients with CF (6-8%) have a more severe hepatic disease with cirrhosis of the liver, but in general this cirrhosis is diagnosed before adulthood. The medical team who will take care of your brother for his CF will be able to give him more explanations after performing blood tests and an ultrasound of the liver.
It is important that your brother be referred to a specialized center for cystic fibrosis (French CRCM). There are 49 CRCM in France and the closest to Lorient are located in Vannes and Roscoff.
When the medical team of the CF center will have an update with your brother, he will be explained his form of cystic fibrosis and given advice for treatment. It's hard to give you much information without knowing his symptoms and health status. It is likely that he will have to practice regular chest physiotherapy. If there is bronchial infection, it is likely that antibiotics will be prescribed.
I cannot either answer on life expectancy without results of his respiratory and general status. But with proper care, he should be able to improve his health and live many more years.
Finally, you ask about genetic testing in the family. I suggest that you talk with the doctor at the CF center who will take care of your brother and will be aware of your brother’s CF mutations in the CF gene (or CFTR gene). He may also refer you to a genetic counseling consultation. The siblings of a patient have 50% risk to be "healthy carriers" of a CF mutation. Those who are carriers then have a 50% chance to transmit this CF mutation to their children.
Best regards.
Dr Dominique Hubert

02.05.2012