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So-called orphan diseases are those conditions that attract little interest by physicians and scientists, which are not widely researched, and where specific treatments are lacking. Orphan diseases are nevertheless characterized by particularly high needs and expectations from patients, who feel abandoned in the world of health care and expect their treating physician to make every possible effort to help them by managing at best their disease. However, as one cannot expect physicians to be knowledgeable with each of the 6000–8000 orphan diseases, they generally lack experience of most orphan diseases and are left with insufficient knowledge to manage these patients. Indeed, most orphan diseases are rare, at least in Europe and North America. Not all orphan diseases are rare, however, and especially neglected tropical infectious diseases are endemic in Africa, Asia, and the Americas, affecting one billion people worldwide and causing tremendous morbidity and mortality. Rare diseases are defined numerically. In Europe, a disease is rare if it affects fewer than 1 person in 2000. In the USA, a rare disease is a disease that affects fewer than 200,000 people or that affects more than 200,000 but for which there is no reasonable expectation to be economically profitable, with the cost of drug development and availability for such a disease to be recovered from sales. Overall, given the plethora of different conditions, rare diseases are a major health-care burden worldwide. Regarding lung medicine alone, it is estimated that 1.5–3 million Europeans and 1.2–2.5 million Americans are affected by a rare lung disease. Despite the many difficulties and obstacles, the new millennium witnessed an astonishing gain in the momentum to improve our understanding and the management of many rare diseases, some of which are, therefore, no longer orphan. Interest in rare diseases has increased greatly worldwide. Patients with orphan diseases have joined associations providing them with a previously unknown sense of community, unprecedented awareness, and strong advocacy for more research and better treatments. A steadily increasing number of international organizations and websites contribute to education, support, and research. Governments and agencies have introduced incentives to encourage the pharmaceutical industry to invest in research despite the small target populations. Specialized centers and clinical networks are now developing and have been identified in many countries: This crucial step provides up-to-date management to patients, allows basic and clinical research, establishes registries, interacts with regulatory agencies, and supports patient associations. Novel conditions and syndromes are discovered. The genetic determinants of many diseases and their underlying pathophysiology are progressively better understood. An increasing number of drug candidates are identified and may be granted an orphan drug designation with more clinical trials completed, thereby leading to the approval and licensing of drugs in diseases heretofore considered not treatable. Diseases such as pulmonary arterial hypertension and idiopathic pulmonary fibrosis, formerly devoid of any treatment, are now treatable although they are still deadly severe and not curable. In this context, diagnosing and managing patients with orphan pulmonary diseases is an increasing challenge to pulmonologists and internal medicine specialists as it is increasingly difficult to keep up to the current pace of growth of knowledge, especially in basic science. To witness the evolution of this field is tremendously stimulating since progress made in pathophysiology, organization of care, and management rapidly translates into clinical practice for the benefit and better-being of patients. As progress continues, it is sure that additional diagnostic instruments and treatment options will soon be available. We, as doctors, should not let our patients miss any opportunity to get the correct diagnosis (avoiding unnecessary procedures) and the best management. Our goal in this book is to provide synthesized and easily accessible information about the main orphan lung diseases. Although some literature is available through original articles and review articles, it is often difficult to find in a timely manner the answers to questions that clinicians caring for patients are facing. They will find here information oriented toward clinical practice, especially the diagnostic approach (including manifestations suggesting the disease, methods for diagnostic confirmation, diagnostic criteria, and differential diagnosis). The reader will understand that although comprehensive and covering most rare and orphan pulmonary diseases, this textbook is not fully exhaustive in an attempt to keep its size reasonable.