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By Dr Hetty van Dijk, IPCRG web editor
May 2004
Cystic fibrosis is caused by absence or malfunction of a protein called cystic fibrosis transmembrane conductance regulator. Already more than 1000 different mutations in the gene coding for this protein are known. A patient with CF carries two mutations: one on each of his two 'CF genes'. Few of these mutations are associated with a milder disease course with later onset of symptoms, preservation of pancreatic function, less progression of lung disease and better outcome overall. Many mutations have been described in a few patients only and therefore it is not known if they cause mild, or severe disease. Of course parents and doctors are eager to get this information. The mutation G85E is more common in the Mediterranean countries but patients with this mutation are living in all parts of Europe. There has been discussion whether it is associated with mild or severe disease. Kris de Boeck from University of Leuven and collaborators across Europe have therefore joined forces. They compared the disease severity in a large group of CF patients with this Mediterranean mutation with that in a group of patients with the classical form of the disease as well as a group with the mild form of the disease. They conclusively show that the Mediterranean mutation leads to classic severe disease. This implies that these patients need strict follow up and early and aggressive treatment. Snoring increases mortality in heart disease
Sleep apnoea is a condition in which breathing pauses occur, often with snoring, frequently during sleep. It occurs in about 50% of the patients with heart failure, which is three- to five-fold greater than in the general middle-aged population. Heart failure has a high mortality, approximately 50% in 5 years, which is similar to many cancers. Matthew T. Naughton and colleagues from Melbourne, Australia, explored whether the presence of sleep apnoea influenced survival. The authors state that the presence of sleep apnoea caused a reduction in the 1-,5-year survival, however not in the 6.8-year survival (the length of the study). The team concludes that sleep apnoea does increase mortality in patients with heart failure at the 1-2 year mark, but that the long term effects are minimal. The long-term "disappearance" of the apnoea effect on mortality may be due to apnoea treatment, strict treatment of the heart failure, or the effect of transplantation and multidisciplinary clinics (cardiac rehabilitation, nurse practitioners). Further studies are required into the relationship between apnoea and heart failure. Steroid puffers and emphysema
Usefulness of inhaled corticosteroids in the treatment of emphysema and chronic bronchitis (COPD) is controversial. Samy Suissa from Montreal, Canada and his team identified 4455 patients initiating treatment for COPD. There were 995 first exacerbations of disease, as identified by hospitalisation for this condition or by treatment with an antibiotic and oral corticosteroid together. Dispensing of inhaled corticosteroids was associated with an increase rather than a decrease in the risk of having an exacerbation of the disease and the risk increased with increasing doses of these medications. This increase in risk is unlikely to be a consequence of using these medications but rather reflects their use among the patients with more severe disease. The authors were unable to show any benefit of inhaled corticosteroids in preventing exacerbations of COPD, even among patients who had not had a prior exacerbation anden might be thought to be in an earlier stage of their disease and therefore more likely to benefit from such medication. These results suggest that the frequent use of inhaled corticosteroids in COPD may not be warranted. Following guidelines goes hand-in-hand with better quality of life in asthma
Asthma patients who are treated according to evidence based guidelines have better quality of life in daily practice, a Dutch study from Flora Haaijer-Ruskamp and her team, shows. Still, only half of patients are treated according to these guidelines. Before this study it was already known that asthma patients receiving guideline recommended drug therapies have less hospital admissions and better lung function than patients not treated according to the guidelines. The present article also suggests a beneficial effect on the quality of life, which relates to the way asthma affects a patient's life; in particular, symptoms and trouble from exposure to environmental stimuli such as bad weather conditions and cigarette smoke. 146 Asthma patients in general practice were observed who overall had a high quality of life (5.5 out of max. 7). Patients who were not treated according to the guidelines however had a significant lower quality of life than those who were (5.3 versus 5.7). An important shortcoming was that many patients were not prescribed relief medication (bronchodilator, i.e. short-acting beta-agonists), even though all patients should at the very least have this medication available in case of serious shortness of breath. A second problem was lack of anti-inflammatory treatment (inhaled corticosteroids) in patients who needed this. The author emphasises the relevance of the use of evidence-based treatment guidelines in daily medical practice.
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