Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden

• Published in: Haematologica (Roma) 2022-02, Vol.107 (2), p.457-466
• Main Authors: Pincez, Thomas, Fernandes, Helder, Leblanc, Thierry, Michel, Gérard, Barlogis, Vincent, Bertrand, Yves, Neven, Bénédicte, Chahla, Wadih Abou, Pasquet, Marlène, Guitton, Corinne, Marie-Cardine, Aude, Pellier, Isabelle, Armari-Alla, Corinne, Benadiba, Joy, Blouin, Pascale, Jeziorski, Eric, Millot, Frédéric, Paillard, Catherine, Thomas, Caroline, Cheikh, Nathalie, Bayart, Sophie, Fouyssac, Fanny, Piguet, Christophe, Deparis, Marianna, Briandet, Claire, Dore, Eric, Picard, Capucine, Rieux-Laucat, Frédéric, Landman-Parker, Judith, Leverger, Guy, Aladjidi, Nathalie
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Anemia, Hemolytic, Autoimmune; Anemia, Hemolytic, Autoimmune - diagnosis; Anemia, Hemolytic, Autoimmune - therapy; Child; Child, Preschool; Follow-Up Studies; Human health and pathology; Humans; Infant; Life Sciences; Prospective Studies; Retrospective Studies; Thrombocytopenia; Young Adult
• ISSN: 0390-6078; 1592-8721
• DOI: 10.3324/haematol.2020.271106

Pediatric-onset Evans syndrome (pES) is defined by both immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA) before the age of 18 years. There have been no comprehensive long-term studies of this rare disease, which can be associated to various immunopathological manifestations (IM). We report outcomes of the 151 patients with pES and more than 5 years of follow-up from the nationwide French prospective OBS'CEREVANCE cohort. Median age at final follow-up was 18.5 years (range, 6.8-50.0 years) and the median follow-up period was 11.3 years (range, 5.1-38.0 years). At 10 years, ITP and AIHA were in sustained complete remission in 54.5% and 78.4% of patients, respectively. The frequency and number of clinical and biological IM increased with age: at the age of 20 years, 74% had at least one clinical IM (cIM). A wide range of cIM occurred, mainly lymphoproliferation, dermatological, gastrointestinal/hepatic and pneumological IM. The number of cIM was associated with a subsequent increase in the number of second-line treatments received (other than steroids and immunoglobulins; hazard ratio 1.4, 95% Confidence Interval: 1.15-1.60, P=0.0002, Cox proportional hazards method). Survival at 15 years after diagnosis was 84%. Death occurred at a median age of 18 years (range, 1.7-31.5 years), and the most frequent cause was infection. The number of second-line treatments and severe/recurrent infections were independently associated with mortality. In conclusion, long-term outcomes of pES showed remission of cytopenias but frequent IM linked to high second-line treatment burden. Mortality was associated to drugs and/or underlying immunodeficiencies, and adolescents-young adults are a high-risk subgroup.