TY - JOUR T1 - Clinical phenotypes and outcomes of precapillary pulmonary hypertension of sickle cell disease JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00585-2019 SP - 1900585 AU - Laurent Savale AU - Anoosha Habibi AU - François Lionnet AU - Bernard Maitre AU - Vincent Cottin AU - Xavier Jais AU - Ari Chaouat AU - Elise Artaud-Macari AU - Matthieu Canuet AU - Grégoire Prevot AU - Christelle Chantalat-Auger AU - David Montani AU - Olivier Sitbon AU - Fréderic Galacteros AU - Gérald Simonneau AU - Florence Parent AU - Pablo Bartolucci AU - Marc Humbert Y1 - 2019/01/01 UR - http://erj.ersjournals.com/content/early/2019/08/29/13993003.00585-2019.abstract N2 - Rationale Precapillary pulmonary hypertension (PH) is a devastating complication of sickle cell disease (SCD). Little is known about the influence of SCD genotype on PH characteristics.Objectives To describe clinical phenotypes and outcomes of precapillary PH due to SCD according to disease genotype.Methods A nationwide multicenter, retrospective study including all patients with SCD-related precapillary PH from the French PH Registry was conducted. Clinical characteristics and outcomes according to SCD genotype were analysed.Results Fifty-eight consecutive SCD patients with precapillary PH were identified, including 41 homozygous for hemoglobin S (SS), 3 S-β0 thalassemia (S-β0 thal) and 14 hemoglobin SC disease (SC). When compared to SC patients, SS/S-β0 thal patients were characterised by lower 6-minute walk distance (p=0.01) and lower pulmonary vascular resistance (p=0.04). Mismatched segmental perfusion defects on lung scintigraphy were detected in 85% of SC patients and 9% of SS/S-β0 thal patients, respectively, and 50% of SS/S-β0 thal had heterogeneous lung perfusion without segmental defects. After PH diagnosis, 31 patients (53%) received medical therapies approved for pulmonary arterial hypertension and chronic red blood cell exchange was initiated in 23 patients (40%). Four patients were managed for chronic thromboembolic pulmonary hypertension by pulmonary endarterectomy (n=1) or balloon pulmonary angioplasty (n=3). Overall survival was 91%, 80% and 60% at 1, 3 and 5 years, respectively without influence of genotype on prognosis.Conclusions Patients with precapillary PH related to SCD have a poor prognosis. Thrombotic lesions appear as a major component of PH related to SCD, more frequently in SC patients.FootnotesThis manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.Conflict of interest: Dr. SAVALE reports grants, personal fees and non-financial support from Actelion, grants, personal fees and non-financial support from MSD, grants, personal fees and non-financial support from GSK, grants, personal fees and non-financial support from Bayer, outside the submitted work.Conflict of interest: Dr. HABIBI has nothing to disclose.Conflict of interest: Dr. LIONNET has nothing to disclose.Conflict of interest: Dr. MAITRE has nothing to disclose.Conflict of interest: Dr. Cottin reports personal fees and non-financial support from Actelion, grants, personal fees and non-financial support from Boehringer Ingelheim, personal fees from Bayer/MSD, personal fees from Gilead, personal fees from Novartis, grants, personal fees and non-financial support from Roche, grants from Sanofi, personal fees from Promedior, personal fees from Celgene, personal fees from Galapagos, personal fees from Astra Zeneca, outside the submitted work.Conflict of interest: Dr. JAIS reports grants, personal fees and non-financial support from Actelion, grants, personal fees and non-financial support from MSD, grants, personal fees and non-financial support from GSK, grants, personal fees and non-financial support from Bayer, outside the submitted work.Conflict of interest: Dr. CHAOUAT has nothing to disclose.Conflict of interest: Dr. ARTAUD MACARI has nothing to disclose.Conflict of interest: Dr. CANUET reports personal fees from Actelion, non-financial support from France oxygene, outside the submitted work.Conflict of interest: Dr. PREVOT has nothing to disclose.Conflict of interest: Dr. Chantalat-Auger has nothing to disclose.Conflict of interest: Dr. MONTANI reports grants and personal fees from Actelion, grants and personal fees from Bayer, personal fees from GSK, personal fees from MSD, personal fees from Pfizer, outside the submitted work.Conflict of interest: Dr. SITBON reports grants, personal fees and non-financial support from Actelion Pharmaceuticals, grants and personal fees from Bayer HealthCare, grants and non-financial support from Merck, grants, personal fees and non-financial support from GlaxoSmithKline, personal fees from Arena Pharmaceuticals, outside the submitted work.Conflict of interest: Dr. Galacteros has nothing to disclose.Conflict of interest: Dr. SIMONNEAU reports grants, personal fees and non-financial support from Actelion Pharmaceuticals, grants and personal fees from Bayer HealthCare, grants and non-financial support from Merck, grants, personal fees and non-financial support from GlaxoSmithKline, personal fees from Arena Pharmaceuticals, outside the submitted work.Conflict of interest: Dr. Parent has nothing to disclose.Conflict of interest: Dr. Bartolucci has nothing to disclose.Conflict of interest: Dr. Humbert reports personal fees from Actelion Pharmaceuticals Ltd, grants and personal fees from Bayer, grants and personal fees from GSK, personal fees from Pfizer, from United Therapeutics, during the conduct of the study; personal fees from Novartis, outside the submitted work. 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