Medical Q&As

Cystic fibrosis - mistaken diagnosis?

A friend in her thirties has just been diagnosed with cystic fibrosis. She has no symptoms of the disease. How could she have CF with no symptoms and also, what is the long-term prognosis?

I wonder if you have the right diagnosis because cystic fibrosis is usually diagnosed in childhood. I have never heard of it being diagnosed in a thirty year old. When I qualified in the late 1970s most people with cystic fibrosis did not survive beyond adolescence whereas today life expectancy is improving to the point that increasing numbers of people with cystic fibrosis are surviving into their thirties and forties. It is an inherited condition that is transmitted by a recessive gene, which means that both parents carry the gene and there is a one in four chance of recurrence of the condition in each subsequent pregnancy. The symptoms of the disease are varied and are attributed to the production of thick viscid mucous. This can result in intestinal obstruction, failure to thrive or recurrent infections of the lower respiratory tract. The condition usually presents in early childhood. The diagnosis rests largely on the demonstration of raised salt levels in the sweat. Some mothers have observed that the baby tastes salty when kissed. The respiratory problems tend to become progressively worse resulting in increasing levels of lung damage from the recurrent infections. The families of people with cystic fibrosis require a great deal of support. The parents are in need of genetic counselling and the entire family needs ongoing support through a long, demanding and at times most distressing illness. Given the scenario I have just outlined maybe you should recheck the diagnosis with your friend. Could she have some other condition containing the term “cystic”?