Orphan diseases interleukin
Nearly 2 centuries have passed since Laënnec wrote the first clinical description of a patient with bronquiectasis, 1 more than 80 years since bronchography became the standard diagnostic method, and more than half a century since Reid used histological findings and bronchography to describe and classify the diverse types of bronchiectasis approximately as they are known today.2 Bronchiectasis is currently defined as the irreversible and sometimes progressive dilatation and destruction of the bronchial wall caused by a vicious pathogenic circle of impaired local defense mechanisms, infection, and airway inflammation.3 All types of bronchiectasis are characterized by predominately neutrophilic and mononuclear inflammation with scores of cellular mediators that modulate both acute and chronic inflammatory response and perpetuate the bronchial lesion.4, 5 The characteristic clinical picture is chronic purulent sputum, functional impairment in the form of air flow obstruction, multiple exacerbations of an infectious type that occasionally involve atypical microorganisms, 6 and dyspnea in advanced stages of the disease-all of which cause progressive deterioration of the patient's quality of life.1, 7 To this day, the etiology of bronchiectasis is unknown in half the cases.8 The present editorial is devoted to types of bronchiectasis that cannot be attributed to cystic fibrosis, an entity which is normally studied separately due to its special characteristics.
From the perspective of epidemiology, bronchiectasis has passed through various stages in its bicentennial history. Before antibiotics, the prevalence of the disease and the associated mortality rate were high: patients died before 40 years of age. The high prevalence kept pace with that of other infectious diseases that led to bronchiectasis, such as tuberculosis and necrotizing pulmonary processes.9 Later, prevalence dropped as a result of the development of preventive medicine, especially immunizations and the antibiotic arsenal.10 Scientific and commercial attention to the disease relaxed during this period of relative epidemiological calm, in which bronchiectasis was thought to be a thing of the past, condemned to extinction. At the end of the 1980s, Barker warned the scientific community in an update on the subject11 by referring to bronchiectasis as "an orphan disease, " the term established by Brewer a few years earlier for diseases abandoned by science and marketplace interests, especially with regard to the development of new treatments, as a consequence of a supposed decline in prevalence.12
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Do patient support groups have a special role to play in research of orphan diseases ?
One of the main aims of patient support groups is to help patients and their families to come to terms with the psychological and practical aspects of their illness, as well as to raise awareness among doctors and researchers to improve diagnosis and treatment care of the disease. This is of special importance in the field of orphan diseases, as methods of diagnosis and treatments are at present greatly lacking.