Pancreas

Question

In me, CF has manifested itself in the pancreas. What is my life expectancy? I am at present 57 years old.

Answer

Dear questioner,

CF is a hereditary disease caused by abnormalities in the CFTR gene. This gene is responsible for the production of the salt channel that works in most cells of our body. This specific salt channel takes care of normal transport of chloride and water in the airways, the pancreas, the liver...

More than 90% of people with CF have the classical severe disease. The disease starts early in life, in the first years and manifests itself by recurrent airway infection and poor weight gain due to malabsorption. These patients have 2 severe mutations in the CFTR gene so that hardly any CFTR protein is being made. In these people CF is a life shortening serious disease.
In the mean time we know that mild errors (mild mutations) in that same CFTR gene can cause milder disease symptoms. We then talk about atypical CF. At times disease symptoms are still related to the function of the CFTR protein but they are mild and these people don’t really strictly qualify for the diagnosis of CF. That is why for them the name CFTR related disorder was thought of. For some of disease errors or mistakes in the CFTR gene we don’t even know if they have a true significance. It is unclear if they are a variant of the normal or if they lead to decreased function of the protein. We thus advise you to read in the sections of genetics on mutation classes etc.

In some people very mild signs of CF or CF related disorders are detected at a later age. When for instance at the age of 57 one finds out that there are abnormalities in the pancreas this can be a consequence of mutations in the CFTR protein but also other causes occur. In these cases giving information about the life expectancy of such a person is absolutely impossible. Most important thing is however if a person has symptoms that seem related to CF that the lung condition of this persons is regularly checked. Because also persons with these mild CF variants can get seriously ill from CF lung disease. But there are also patients with mutations in the CFTR gene in whom the life expectancy will not be determined by CF but by causes that determine survival in the general population such as the occurrence of cancer or the occurrence of heart disease.

Best regards,

Prof. dr. K. De Boeck

04.08.2011