Cryptogenic Fibrosing Alveolitis (CFA) is a relatively rare lung disease which has been in the news recently. The Corrs have spoken about their mother's death from CFA and of their determination to raise funds for further research into the disease. CFA is a classic example of opaque medical terminology. "Cryptogenic" means that the cause is unknown; "fibrosing" refers to the scarring of lung tissue that is one of the hallmarks of the disease; and "alveolitis" refers to the sponge-like appearance of the alveoli, the air sacs which make up the basic architecture of the lungs.
CFA occurs in up to 30 per 100,000 of the population, and is increasingly easy to recognise, thanks to the advent of high-resolution CT scans. It affects twice as many men as women and is more common in older people. But CFA can occur in all groups, from small children upwards.
It is especially prevalent in areas of heavy industry, which ties in with a known link between the disease and exposure to heavy metal dust. Some 20 per cent of cases are associated with exposure to either wood or metal dust, although no direct causal or pathological relationship has yet been shown to link the effects of CFA with these exposures.
A recently discovered association is with severe regurgitation of stomach acid. Patients with severe and untreated acid reflux may continuously swallow the acid down "the wrong way" so that it gets into the lungs and causes scarring over a period of time.
Dr Jim Egan, the newly appointed consultant respiratory physician at the Mater Hospital, Dublin, has a special interest in the condition and will have a crucial role in the State's imminent lung transplant programme. According to him, CFA can be likened to a multiple injury syndrome, by which the repeated insult of the dust or acid sets up a scarring reaction in the lungs. This also explains the link between CFA and conditions such as rheumatoid arthritis, a disease in which the body's immune system turns on itself and begins to destroy joint tissue.
Typical symptoms of CFA are a worsening shortness of breath and a dry cough. Although, as Dr Egan acknowledges, these could just as easily be signs of asthma or heart failure, the key difference is the rapid worsening of the breathlessness.
Dr Egan recalls Frank, a 60year-old retired civil engineer he treated. A fit man who played rugby until his mid-40s, Frank first noticed breathlessness while on holiday abroad. Climbing an average flight of stairs in the apartment block made him noticeably short of breath.
The first symptoms occurred in April, and by summer he was unable to rebuild a small wall in his back garden. He then got an upper respiratory infection which made him extremely breathless. He was seen first by a cardiologist, who could find no cause for his condition. A respiratory physician then speculated that Frank might have late-onset asthma, but a course of high-dose steroid therapy did not lead to an improvement. About 18 months after his symptoms first appeared, he was referred to Dr Egan, who diagnosed CFA after a CT scan. However, Frank's condition progressed beyond the point where lung transplantation was possible and he died six months later.
The case illustrates some of the difficulties facing both patients and doctors. Those CFA patients who respond to medical treatment are in a definite minority. For example, one group that responds very well to high-dose steroid treatment is women under the age of 60 with a "ground glass" appearance to their lungs on a CT scan. As soon as CFA is diagnosed, a specialist must decide whether a patient will respond to highdose immuno-suppressive treatment. This decision is made especially challenging by the fact that the same treatment can worsen CFA in some people.
Generally, elderly male patients are unlikely to respond to aggressive immune system suppression. So what can we offer these CFA patients? Dr Egan says treatment for this group is based on a rehabilitation programme, encompassing exercise and prompt treatment of infection, with the aim of prolonging a patient's survival.
As to lung transplantation, it must be offered as early as possible to younger CFA patients who are not amenable to drug treatment. Because CFA is a non-infectious disease, a single lung transplant is sufficient to improve symptoms.
At present, patients from the Republic must travel to the Freeman Hospital in Newcastle, England, for lung transplants. "A lung transplant service is being developed in the Mater to provide a service for these patients so that they do not have to travel abroad," Dr Egan says. "The service will be phased in over the next two years." He anticipates that 15 to 20 transplants a year will be carried out here by surgeons Mr Freddie Wood and Mr Jim McCarthy.
Are there any other new treatments on the horizon? The Mater Hospital is one of the participants in a study to assess whether interferon will work in the treatment of CFA. A major European multi-centre study is also currently examining the possibility of using anti-oxidant therapy to dampen the inflammatory response in CFA. It has the potential to suppress the genes that cause lung scarring.
Dr Egan is hopeful that the condition will be more commonly recognised in the future and that more patients from all over Europe will participate in treatment trials. In the not too distant future, the first Irish lung transplant may well be performed on a patient with CFA.
Dr Muiris Houston, Medical Correspondent, can be contacted at mhouston@irish-times.ie, or messages can be left on tel: 01- 6707711, ext 8511. He regrets he cannot reply to individual medical problems.