A Clinical Approach to Rare Lung Diseases

  • Ralph J. Panos
Part of the Respiratory Medicine book series (RM)


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 ( 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.


rare lung disease respiratory history respiratory physical examination chest imaging 


  1. 1.
  2. 2.
  3. 3. aspx Accessed December, 2007.
  4. 4.
    Tobin MJ. Dyspnea: pathophysiologic basis, clinical presentation, and management. Arch Intern Med 1990;150:1604–13.CrossRefPubMedGoogle Scholar
  5. 5.
    Gillespie EJ, Staats BA. Unexplained dyspnea. Mayo Clin Proc 1994;69:657–63.PubMedGoogle Scholar
  6. 6.
    Pratter MR, Curley FJ, Dubois J, Irwin RS. Cause and evaluation of chronic dyspnea in a pulmonary disease clinic. Arch Intern Med 1989;149:2277–82.CrossRefPubMedGoogle Scholar
  7. 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. 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. 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
  10. 10.
    Lynch DA, Travis WD, Mueller NL, et al. Idiopathic interstitial pneumonias: CT features. Radiology 2005;236:10–21.CrossRefPubMedGoogle Scholar
  11. 11.
    Lichtenstein DA. Ultrasound in the management of thoracic disease. Crit Care Med 2007;35:S250–S61.CrossRefPubMedGoogle Scholar
  12. 12.
    Feller-Kopman D. Therapeutic thoracentesis: the role of ultrasound and pleural manometry. Curr Opin Pulm Med 2007;13:312–8.CrossRefPubMedGoogle Scholar
  13. 13.
    Goerg C. Transcutaneous contrast-enhanced sonography of pleural-based pulmonary lesions. Eur J Radiol 2007;64:213–21.Google Scholar
  14. 14.
    Eber E. Antenatal diagnosis of congenital thoracic malformations: early surgery, late surgery, or no surgery? Semin Respir Crit Care Med 2007;28:355–66.CrossRefPubMedGoogle Scholar
  15. 15.
    Sheski FD, Mathur PN. Endobronchial ultrasound. Chest 2008;133:264–70.CrossRefPubMedGoogle Scholar
  16. 16.
    Carbone R, Bossone E, Bottino G, et al. Secondary pulmonary hypertension-diagnosis and management. Eur Rev Med Pharmacol Sci 2005;9:331–42.PubMedGoogle Scholar
  17. 17.
    Dooms C, Vansteenkiste J. Positron emission tomography in nonsmall cell lung cancer. Curr Opin Pulm Med 2007;13:256–60.CrossRefPubMedGoogle Scholar
  18. 18.
    Albouaini K, Egred M, Alahmar A, Wright DJ. Cardiopulmonary exercise testing and its application. Heart 2007;93:1285–92.PubMedGoogle Scholar
  19. 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
  20. 20.
    Milani RV, Lavie CJ, Mehra MR, Ventura HO. Understanding the basics of cardiopulmonary exercise testing. Mayo Clin Proc 2006;81:1603–11.CrossRefPubMedGoogle Scholar
  21. 21.
    Kakkar RK, Hill GK. Interpretation of the adult polysomnogram. Otolaryngol Clin North Am 2007;40:713–43.CrossRefPubMedGoogle Scholar
  22. 22.
    Culebras A. Who should be tested in the sleep laboratory? Rev Neurol Dis 2004;1:124–32.PubMedGoogle Scholar
  23. 23.
    Arand D, Bonnet M, Hurwitz T, et al. The clinical use of the MSLT and MWT. Sleep 2005;28:123–44.PubMedGoogle Scholar
  24. 24.
    Cepelak I, Dodig S. Exhaled breath condensate: a new method for lung disease diagnosis. Clin Chem Lab Med 2007;45:945–52.CrossRefPubMedGoogle Scholar
  25. 25.
    Fireman E, Lerman Y. Induced sputum in interstitial lung diseases. Curr Opin Pulm Med 2006;12:318–22.CrossRefPubMedGoogle Scholar
  26. 26.
    Brightling CE. Clinical applications of induced sputum. Chest 2006;129:1344–8.PubMedGoogle Scholar
  27. 27.
    Hunt J. Exhaled breath condensate: an overview. Immunol Allergy Clin North Am 2007;27:587–96.Google Scholar
  28. 28.
    Balbi B, Pignatti P, Corradi M, et al. Bronchoalveolar lavage, sputum and exhaled clinically relevant inflammatory markers: values in healthy adults. Eur Respir J 2007;30:769–81.CrossRefPubMedGoogle Scholar
  29. 29.
    Tournoy KG, DeRyck F, Vanwalleghem LR, et al. Endoscopic ultrasound reduces surgical mediastinal staging in lung cancer: a randomized trial. Am J Respir Crit Care Med 2008;177:531–5.PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Ralph J. Panos
    • 1
  1. 1.Department of Internal MedicineUniversity of Cincinnati School of Medicine, Cincinnati VA Medical CenterCincinnatiUSA

Personalised recommendations