CF

Question

Is CF only a hereditary disease or you can also get t after a certain age?

Answer

Cystic Fibrosis (CF) is a hereditary disease, which means that the disease is caused by errors (mutations) on our chromosomes (our genetic material). A patient with CF is born with the disease. "You either have the disease or you do not have the disease”. However, a patient with CF does not always have symptoms from birth. For some it may take a while before CF is diagnosed. CF is equally frequent in boys and in girls. The 'autosomes’ (type of chromosome other than the x and y chromosome) run in pairs; one autosome is inherited from the father and one inherited from the mother. Each individual thus has two copies of each inherited attribute coded on the autosomes. In CF, there is an error in the copy inherited from both the father and the mother.
CF is a disease that presents itself in different ways; however, in most patients we see a serious illness. These patients have symptoms early in life such as poor digestion (diarrhea, impaired growth, cramps) and/or respiratory infections (cough). There are mild forms of CF where symptoms start later in life. For half the patients known with CF in Belgium the diagnosis is made before the age of 1 year (often even before the age of 7 months). In 90% the diagnosis is made before the age of 14 years and 10% in adult age.
Most of the 10% of patients, whose diagnosis is confirmed after the age of 14 years, did not show notable respiratory or digestive problems as a child.
Some late diagnoses are described as ‘a-typical’, with mutations leading to less severe illness (more than 1500 mutations are known). It is often difficult to diagnose CF in ‘a-typical’ patients, especially due to the milder or incomplete presentation of symptoms. For example, in some men CF is diagnosed because of infertility problems: due to the absence of the vas deference (canal via which sperm is transported) in most male CF patients. However, these patients have no airway nor digestive problems. Diagnosis of CF in later life is not unusual, but CF is also for these patients a hereditary disease.
CF patients diagnosed in adulthood often have mild disease. Nevertheless, the diagnosis and follow-up of patients with ‘a-typical’ form of CF should be done in a CF centre with experience in the treatment of adults with CF.
Dr. M. Boon

29.12.2009