ABSTRACT

Pulmonary hypertension (PHT) is an unusual and unknown illness but with high morbi-mortality. It shown different etiology and comorbidity so it’s studied by many specialities, this is a reason for existing experts about this pathology and a lot of complementary test for doing a correct diagnosis. We suggest a systematic study, following the actual practical clinical guidelines, about patients less than 75 years old with severe PHT (PBPS › 60 mmHg) with echocardiography from January 1995 through August 2007 in area 3 of Aragones Health Service. We compiled 58 cases of severe PHT with suspected diagnosis based only in clinical details. Later we realize tests recommended in guidelines and in a second interview we report the results and give them a definitive diagnosis if we would have achieved it. In 54 patients we had a final diagnosis (93.1%) and it wasn’t possible in 4 (6.9%). In 42 cases (70.7%) was confirmed the initial suspect, but in 17 patients (29.3%) the final diagnosis was different than the initial. The more frequent etiology was PHT associated to left heart illness, mainly valve disease in 50% of them.

KEYWORDS

Pulmonary hypertension, etiology, diagnosis, practical clinical guidelines, BMPR2 mutations.

REFERENCES

1. 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.

2. McLaughlin VV, Presberg KW, Doyle RL, et al. Prognosis of Pulmonary Arterial Hypertension: ACCP Evidence-Based Clinical Practice Guidelines. Chest, Jul 2004; 126: 78S-92S.

3. Galiè N, Torbicki A, Barst R, et al. Guías de Práctica Clínica sobre el diagnóstico y tratamiento de la hipertensión arterial pulmonar. Rev Esp Cardiol 2005; 58: 523-66.

4. Barberá JA, Escribano P, Morales P, et al. Estándares asistenciales en hipertensión pulmonar. Documento de consenso elaborado por la Sociedad Española de Neumología y Cirugía Torácica (SEPAR) y la Sociedad Española de Cardiología (SEC). Arch Bronconeumol 2008; 44: 87-99.

5. McGoon M, Gutterman D, Steen V, Barst R, McCrory DC, Fortin TA, Loyd JE. Screening, Early Detection, and Diagnosis of Pulmonary Arterial Hypertension: ACCP Evidence-Based Clinical Practice Guidelines Chest, 2004; 126: 14S-34S.

6. Machado RD, Alfred MA, James V, et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006; 27(2): 121-132.

7. Morse JH. Bone morphogenetic proteína receptor-2 mutations in pulmonary hypertension. Chest 2002; 121: 50-3.

8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.

9. Müllenbach R, Lagoda R, Welter C. An efficient salt-chloroform extraction of DNA from blood and tissues. Trends Genet 1989; 5: 391.

10. Vahanian A, Baumgartner H, Bax J, Butchart E, Dion R, et al. Guidelines on the management of valvular heart disease: The task force on the management of valvular heart disease of the European Society of Cardiology. Eur Heart J 2007; 28: 230–68.

11. Machado RD, Pauciulo MW, Thomson JR, et al. BMPR2 haploinsufficiency as the inherited molecular mechanism for the primary pulmonary hypertension. Am J Hum Genet 2001; 68: 92-102.

12. Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T. BMPR2 mutations found in japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat 2004; 23: 632.

13. D‘Alonzo GE, Barst RJ, Ayres Sm, Bergofsky EH, Brundage BH, Detre KM. Survival in patients with primary pulmonary hypertension. Results from a national prospective registry. Ann Intern Med 1991; 115: 343-9.

14. Rich S, Dantzker DR, Ayres SM, Bergofsky EH, Brundage BH, Detre KM, Fishman AP, Goldring RM, Groves BM, Koerner SK, Levy PC, Reid LM, Vreim CE, Williams GW. Primary pulmonary hypertension: a national prospective study. Ann Intern Med 1987; 107: 216-23.

15. Humbert M, Sitbon O, Chaocuat A, et al. Pulmonary arterial hypertension in France. Results from a National Registry. Am J Respir Crit Care Med 2006; 173: 1023-1030.

16. Thenappan T, Shah S J, Rich S and Gomberg-Maitland M. A USA-based registry for pulmonary arterial hypertension: 1982-2006. Eur Respir J 2007; 30: 1103-1110.

17. McKenna SP, Doughty N, Meads DM, Doward LC, Pepke-Zaba J. The Cambridge Pulmonary Hypertension Outcome Review (CAMPHOR): a measure of health-related quality of life and quality of life for patients with pulmonary hypertension. Qual Life Res 2006; 15: 103-15.

18. Zagolin B, Mónica, Wainstein G, Eduardo, Uriarte G De C, Polentzi, et al. Caracterización clínica, funcional y hemodinámica de la población con hipertensión pulmonar arterial evaluada en el Instituto Nacional del Tórax. Rev Med Chile Mayo 2006; 134(5): 589-595. ISSN 0034-9887.

19. Delgado JF. Evaluación hemodinámica del paciente con hipertensión pulmonar. En: Hipertensión Arterial Pulmonar. Documento de Consenso. Meditext 2002: 49-55.

20. Rich S, et al. Primary pulmonary hypertension. Executive Summary from the World Symposium. Primary Pulmonary Hypertension. World Health Organization, 1998.

21. Huffmer JL, Nemergut EC. Respiratory dysfunction and pulmonary disease in cirrhosis and other hepatic disorders. Respir Care 2007; 52(8): 1030-1036.

22. Hadengue A, Benhayoun MK, Lebrec D, et al. Pulmonary hypertension complicating portal hypertension: prevalence and relation to splanchnic hemodynamics. Gastroenterology 1991; 100: 520-8.

23. Rodriguez-Roisin R, Krowka MJ, Herve P, Fallon MB. Pulmonary-hepatic vasculars disorders (PHD). Eur Respir J 2004; 24: 861-80.

24. Fedullo PF, Auger WR, Kerr KM, et al.. Chronic thromboembolic pulmonary hypertension. N Engl J Med 2001; 345: 1465-72.

25. Rich S, Lvitsky S, Brundage BH. Pulmonary hypertension from chronic pulmonary thromboembolism. Ann Intern Med 1988; 108: 425-430.

26. Pengo V, Lensing WA, Prins MH, Marchiori A, Davidson BL, Tiozzo F, Albanese P, Biasiolo A, Pegoraro C, Iliceto S, Prandoni P. Incidence of chronic thromboembolic pulmonary hypertension after pulmonary embolism. N Engl J Med 2004; 350: 2257-2264.