Cystic Fibrosis (CF) is the most common genetically determined disease in Britain. Each year about 400 infants are born with the disorder and of these probably less than 25 per cent will survive into their 30s.
It is not historically clear when the study of CF began. While the American National Cystic Fibrosis Foundation (1971) maintains that the first descriptions of the disease were recorded in 1905 by Landsteiner and in 1912 by Garrod, it also acknowledges that the disorder was not described as a discrete entity until the 1930s. Numerous clinical manifestations associated with the disease and the varying degree of severity between patients probably caused confusion with other diseases for a considerable period of time.
The first year that cystic fibrosis (or cystic fibrosis of the pancreas as it was then called) was distinguished from other diseases with similar clinical manifestations is claimed to be 1934.
During the short history of the disease, the prognosis for CF has shown a marked improvement. Whereas survival was measured in months when the disease was first described, most patients in developed countries now survive childhood, with a mean life span in specialist CF centres of between 20 and 25 years. The reasons for this improvement reflect a consortium of factors: earlier diagnosis, the availability and appropriate use of effective antibiotics and improved patterns of health care. They have not only been effective in prolonging life but equally important, advances in these areas of management of the disease have resulted in notable improvements in the quality of life for CF patients.
Much has been learned about the disease over the past fifty years but many fundamental problems remain unsolved. The precise biochemical fault that causes CF is still unknown, there is no known cure for the disease and until recently there was no reliable method suitable for routine use to diagnose the disease at an early stage (that is in utero). Furthermore, the increase in life expectancy enjoyed by CF patients has inevitably brought new problems and, challenges for the sufferers themselves and those involved with them. In recent months, however, scientists and researchers have announced a significant discovery, namely the identification of the location of the gene defect causing CF. This information raises new hope for those affected by the disease and their families.
This paper looks at the nature and management of CF, the improvement in prognosis, the possibilities for prevention and social and economic considerations.