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American Journal of Respiratory and Critical Care Medicine Vol 174. pp. 228, (2006)
© 2006 American Thoracic Society

Correspondence

The Need for National Registries in Rare Diseases

To the Editor:

Humbert and colleagues, in their recent article, have published results from the national registry of pulmonary arterial hypertension (PAH) in France (1). Beyond the interesting data regarding the demographics and functional characteristics of the patients enrolled in the study, allowing the comparison with the national registry from the United States, which was published in the early 1990s by D'Alonzo and coworkers (2), the proportion of the different disease subtypes (i.e., idiopathic, associated with connective tissue diseases, or related to portal hypertension) indicates a key feature of national registries in rare diseases: the data raise the possibility of better allocation of medical and research resources. One clear example of this is the prevalence of pulmonary hypertension in association with schistosomiasis in developing countries. For example, a recent study from two reference centers in Brazil (3, 4), which included schistosomiasis-related pulmonary hypertension together with other causes of PAH, found that about 30% of the cases of PAH could be associated with schistosomiasis. This astonishing proportion, besides being a clear consequence of social conditions in many parts of the country, should, more importantly, draw the attention of researchers and clinicians to a regional characteristic that needs to be addressed and also that needs to be considered when extrapolating diagnostic and treatment algorithms to particular populations (5, 6). This merit of Humbert and coworkers' article could be extrapolated to many other rare or orphan diseases whose regional distribution or characteristics should be considered at the time of the implementation of health policies.

Rogério Souza, Carlos Jardim and Carlos Carvalho

University of São Paulo Medical School, São Paulo, Brazil

FOOTNOTES

Conflict of Interest Statement: None of the authors has a financial relationship with a commercial entity that has an interest in the subject of this manuscript.

REFERENCES

  1. Humbert M, Sitbon O, Chaouat A, Bertocchi M, Habib G, Gressin V, Yaici A, Weitzenblum E, Cordier J-F, Chabot F, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 2006;173:1023–1030.[Abstract/Free Full Text]
  2. D'Alonzo GE, Barst RJ, Ayres SM, Bergofsky EH, Brundage BH, Detre KM, Fishman AP, Goldring RM, Groves BM, Kernis JT, et al. Survival in patients with primary pulmonary hypertension. Results from a national prospective registry. Ann Intern Med 1991;115:343–349.[Medline]
  3. Lapa MS, Ferreira EM, Jardim C, Martins B, Arakaki JSO, Souza R. Clinical characteristics of pulmonary hypertension patients in 2 reference centers in Sao Paulo. Rev Assoc Med Bras (In press)
  4. Lapa MS, Ferreira EM, Jardim C, Martins B, Arakaki JSO, Souza R. Pulmonary hypertension in two reference centers in Brazil: the importance of schistosomiasis as a differential diagnosis [abstract]. Proc Am Thorac Soc 2006;3:A418.
  5. Barst RJ, McGoon M, Torbicki A, Sitbon O, Krowka MJ, Olschewski H, Gaine S. Diagnosis and differential assessment of pulmonary arterial hypertension. J Am Coll Cardiol 2004;43:40S–47S.[Abstract/Free Full Text]
  6. Galie N, Torbicki A, Barst R, Dartevelle P, Haworth S, Higenbottam T, Olschewski H, Peacock A, Pietra G, Rubin LJ, et al. Guidelines on diagnosis and treatment of pulmonary arterial hypertension. The Task Force on Diagnosis and Treatment of Pulmonary Arterial Hypertension of the European Society of Cardiology. Eur Heart J 2004;25:2243–2278.[Free Full Text]



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