Br J Haematol. 2024 Aug 18. doi: 10.1111/bjh.19701. Online ahead of print.

M Gilton ¹, H Fernandes ², C Martinez ³, G Leverger ⁴, W Abou Chahla ⁵, V Li Thiao Te ⁶, M Deparis ⁷, C Armari Alla ⁸, N Garnier ⁹, J Benadiba ¹⁰, A Marie-Cardine ¹¹, F Rieux-Laucat ¹², C Picard ¹³, N Aladjidi ², T Leblanc ¹⁴

Author information

¹Department of Paediatric Haematology-Oncology, Robert-Debré University Hospital, AP-HP, Pairs, France.

²CEREVANCE, Paediatric Haemato-Immunology, CIC1401, INSERM CICP, Bordeaux University Hospital, Bordeaux, France.

³Department of Paediatric Gastroenterology, Robert-Debré University Hospital, AP-HP, Paris, France.

⁴CEREVANCE, Paediatric Oncology Immunology Haematology Unit, Armand-Trousseau University Hospital, AP-HP, Paris, France.

⁵Department of Paediatric Haematology, Jeanne de Flandre Hospital, Lille University Hospital, Lille, France.

⁶Department of Paediatric Haematology/Oncology, Amiens University Hospital, Amiens, France.

⁷Paediatric Oncology-Haematology Unit Department, Caen University Hospital, Caen, France.

⁸Paediatric Haematology-Oncology Department, Grenoble University Hospital, Grenoble, France.

⁹Institute of Paediatric Haematology and Oncology, Hospices Civils de Lyon, Lyon, France.

¹⁰Department of Haematology-Oncology Paediatrics, Nice University Hospital, Nice, France.

¹¹Department of Paediatric Haematology and Oncology, Rouen University Hospital, Rouen, France.

¹²Imagine Institute Laboratory of Immunogenetics Pediatric Auto-Immune Diseases, Necker Hospital for Sick Children, AP-HP, Paris University, Paris, France.

¹³Study Center for Primary Immunodefiencies, Necker Hospital for Sick Children, AP-HP, Paris University, Paris, France.

¹⁴CEREVANCE, Paediatric Haematology Unit, Robert-Debré University Hospital, Assistance Publique-Hôpitaux de Paris and Université Paris-Cité, Paris, France.

Abstract

The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has been reported in small series, but the incidence of and risk factors for IBD in children with AIC are not known. One thousand six hundred nine children with chronic immune thrombocytopenic purpura, autoimmune haemolytic anaemia or Evans syndrome from the prospective OBS'CEREVANCE cohort are included in this study. Overall, 15 children were diagnosed with IBD, including 14 who developed IBD after AIC diagnosis (median delay: 21 months). The only risk factor for IBD development is age at AIC over 10 years. Out of 10 children genetically tested, germline variants associated with autoimmune disorders were identified in three (CTLA4: two, DOCK11: one). In children and adolescents monitored for AIC or past history of AIC, especially children over 10 years, gastro-intestinal (GI) symptoms (recurrent abdominal pains, GI bleeding, chronic diarrhoea, weight loss) should suggest IBD and deserve specific work-up and genetic studies. Identification of a causal germline variant will allow targeted therapy.