Can you get symptoms from cystic fibrosis when you are already an adult?

Question

Can you get symptoms from cystic fibrosis when you are already an adult?

Answer

Dear,

Thank you for this interesting question.

As you know, CF is an hereditary disease. The main defect is the absence or dysfunction of the chloride channel in the cell membrane (for more detailed information check the questions in the archive). Patients with CF have an error in the genetic code for the CFTR channel. This error is present from birth on, but the complaints or symptoms will not always start from birth. They can sometimes become obvious only at a later age. The more severe the dysfunction of the chloride channel (e.g. it is completely absent), the earlier the symptoms usually start. CF can manifest itself from the first day of life by for instance meconium ileus (= complete obstruction of the small intestine by sticky stools) or by insufficient weight gain despite sufficient caloric intake. Both symptoms are the consequence of a poorly functioning pancreas. Also airway disease can already occur from young age on. In other cases however, the diagnosis of CF manifests itself only later. In 10% the disease will only be diagnosed during adulthood.

Until present, more than 1800 different mutations have been described. Some of these mutations cause very little change in the functioning of the chloride channel, so that the disease is milder. In these people the symptoms often only start at a later age. It may concern chronic sinusitis or relatively mild signs of bronchitis. In rare cases the diagnosis is made because of infertility even in the absence of any signs of sinusitis or bronchitis.

When the disease symptoms only start in adulthood, this does not mean that the patients only get the disease then. They do have the genetic defect of CF from birth on. It is just that the symptoms only start at a later age.

To directly answer your question: yes, you can only start having problems from CF at a later age. Most of the time these symptoms will then be milder and progress less fast than in the classical form of CF that starts in infancy.

If you need any personal advice of course you should go see your doctor or make an appointment in a CF centre.

Prof. Kris de Boeck

03.05.2012