Allogeneic haematopoietic stem cell transplantation for refractory perforating intestinal Behçet disease in a patient with aplastic anaemia: A case report
Xiuyun Rao, Xu Luo, Li Dai, Qian WangRationale:
Aplastic anemia (AA) rarely coexists with intestinal Behçet disease (iBD), and the post-partum period may further complicate its expression. Managing refractory iBD with recurrent perforation on a background of long-standing AA is challenging, and evidence on optimal treatment is limited.
Patient concerns:
A 42-year-old woman with non-severe aplastic anemia (NSAA) diagnosed in 2005 (AA duration ≈ 20 years) developed recurrent fever, oral ulcers, and penetrating ulcers of the ileocaecum and terminal ileum shortly after cesarean delivery in June 2019, with one episode of vulvar ulceration.
Diagnoses:
Histology showed transmural vasculitis with focal obliterative endarteritis, confirming iBD; HLA-B51 was negative. Pre-transplant marrow was markedly hypocellular without dysplasia, and karyotype (46,XX), flow cytometry, myelodysplastic syndrome/AML and myeloproliferative neoplasm gene panels, and paroxysmal nocturnal hemoglobinuria screening were all negative, supporting acquired AA rather than hypoplastic myelodysplastic syndrome.
Interventions:
Despite corticosteroids, tacrolimus, tofacitinib, and tocilizumab, she sustained 2 intestinal perforations (May and September, 2023). As iBD was refractory and AA had progressed to very severe AA, she underwent human leukocyte antigen (HLA)-matched sibling peripheral-blood allogeneic hematopoietic stem cell transplantation (allo-HSCT) in June 2024 with fludarabine/busulfan/cyclophosphamide/ anti-thymocyte globulin conditioning.
Outcomes:
Neutrophil and platelet engraftment occurred around D+11 and D+15, with 100% donor chimerism at D+16 and no acute or chronic graft-versus-host disease; only transient, self-limiting cytomegalovirus (CMV) and Epstein–Barr virus DNAemia occurred, without CMV disease or post-transplant lymphoproliferative disorder. Blood counts recovered progressively, with hemoglobin 127 grams/L and platelets 118 × 10 9 /L at the last follow-up (≈12 months), only mild residual cytopenia, transfusion independence, and sustained remission of iBD on maintenance immunosuppression. She then returned to work and was lost to follow-up.
Lessons:
This case suggests that allo-HSCT may be an effective option for selected patients with AA and refractory iBD, achieving sustained remission of both the marrow failure and the intestinal disease. As this is a single case with limited follow-up (≈12 months), longer follow-up and additional cases are needed.