A Clinical Approach to Rare Lung Diseases
The National Institutes of Health Office of Rare Diseases (ORD) defines a rare or orphan disease as a disorder with a prevalence of fewer than 200,000 affected individuals within the United States whereas in Europe, rare diseases are defined as those disorders that affect 1 or fewer individuals per 2,000 persons. Several consortia exist for the compilation of rare lung disorders: the British orphan lung disease (BOLD) registry, the British pediatric orphan lung disease (BPOLD) registry, the French Groupe d’Etudes et de Recherche sur les Maladies Orphelines Pulmonaires (GERM”O”P”) database, and the Rare Lung Disease Consortium (RLDC) in the United States. The National Organization for Rare Diseases (http://www.raredisease.org) is a nongovernmental federation of organizations to assist individuals with rare diseases that seeks to expand recognition and treatment of individuals with these rare illnesses. This chapter presents an approach to pulmonary medicine that aims to go beyond the usual respiratory disorders to examine the evaluation and understanding of rare lung diseases that have provided extraordinary insights into not only lung function in health and disease but also human biology in general. The respiratory history, physical examination, chest imaging, and related studies are reviewed. The emphasis of this chapter is the formulation of a differential diagnosis that encompasses rare noninfectious, nonmalignant lung diseases of adults and is based on the presence or absence of associated signs and symptoms.
Keywordsrare lung disease respiratory history respiratory physical examination chest imaging
- 1.http://www.zebracards.com/a-intro_inventor.html Accessed November, 2006.
- 2.http://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN Acces-sed December, 2007.
- 3.http://rarediseases.info.nih.gov/AboutUs aspx Accessed December, 2007.
- 7.Irwin RS, Baumann MH, Bolser DC, Boulet LP, Braman SS, Brightling CE, Brown KK, Canning BJ, Chang AB, Dicpinigaitis PV, et al. Diagnosis and management of cough: ACCP evidence-based clinical practice guidelines. Chest 2006;129(suppl 1):1S–23S.Google Scholar
- 8.Banerjee D, Kuschner WG. Diagnosing occupational lung disease a practical guide to the occupational pulmonary history for the primary care practitioner. Comp Ther 2005;31(1):2–11.Google Scholar
- 9.Mueller NL. Computed tomography and magnetic resonance imaging: past, present, and future. Eur Respir J Suppl 2002;35:3 s–12 s.Google Scholar
- 13.Goerg C. Transcutaneous contrast-enhanced sonography of pleural-based pulmonary lesions. Eur J Radiol 2007;64:213–21.Google Scholar
- 19.Task Force ERS, Palange P, Ward SA, et al. Recommendations on the use of exercise testing in clinical practice. Eur Respir J 2007;29:185–209.Google Scholar
- 27.Hunt J. Exhaled breath condensate: an overview. Immunol Allergy Clin North Am 2007;27:587–96.Google Scholar