Intestinal Behçet disease associated with myelodysplastic syndrome accompanying trisomy 8 successfully treated with abdominal surgery followed by hematopoietic stem cell transplantation

Abstract

Rationale: Intestinal Behçet disease (BD) with myelodysplastic syndrome (MDS) is a rare condition that is resistant to various immunosuppressive therapies. Several cases in which hematopoietic stem cell transplantation (HSCT) was effective for intestinal BD with MDS accompanying trisomy 8 have been reported. Patient concerns: We report an 18-year-old female with a 7-year history of BD. Colonoscopy demonstrated a huge ulcer in the cecum. Chromosomal examination revealed a karyotype of trisomy 8 in 87% of cells. Bone marrow examination revealed dysplastic cells in multilineages. Diagnoses: A diagnosis of intestinal BD associated with MDS accompanying trisomy 8 was made. Interventions: The patient underwent ileocecal resection due to microperforations of ileocecal ulcers; she then underwent allogeneic peripheral blood stem cell transplantation (PBSCT) with her mother as a donor. Outcomes: After the PBSCT, the patient's symptoms due to BD (fever, oral aphthae, abdominal pain, and genital ulcers) completely disappeared, with no severe adverse events. Lessons: The present case demonstrates that HSCT including PBSCT might be an effective new therapeutic option for refractory intestinal BD with MDS when immunosuppressive therapy has achieved insufficient efficacy.

Successful allogeneic bone marrow transplantation after massive gastrointestinal bleeding in a patient with myelodysplastic syndrome associated with intestinal Behçet-like disease

“…This is the first report of allo-HSCT recipient with BLD who experienced post-transplant life-threatening GI bleeding, to the best of our knowledge. Among the previously reported 18 cases of allo-HSCT for MDS or acute myeloid leukemia with myelodysplasia-related changes with BLD [4] , [5] , [6] , [7] , [8] , 16 patients had GI lesions, with 10 of those patients receiving allo-HSCT with active GI lesions. Myeloablative conditioning was performed in 8 patients.…”

“…Several reports have highlighted the potential efficacy of azacytidine [3] , but its clinical evaluation has yet to be determined. Allo-HSCT has been reported to control both MDS and BLD in some cases [3] , [4] , [5] , [6] , [7] , [8] . However, there have been limited reports of complications related to allo-HSCT for MDS with BLD.…”

Understanding and managing anti-MDA 5 dermatomyositis, including potential COVID-19 mimicry

“…Anti-MDA5 antibody can be detected using IP (gold standard), line immunoassay or ELISA with a good agreement amongst the assays [ 5 , 13 , 72 ]. Associated Ro-52 antibodies are described in up to 60% of patients, and may pose a greater risk for RP ILD and cutaneous vasculopathy [ 48 – 50 , 73 , 74 ].…”

Intestinal Behçet’s disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report

“…Gastrointestinal involvement in BD, called intestinal BD, results in higher morbidity and mortality [ 2 ]. Myelodysplastic syndrome (MDS) with trisomy 8, a hematological disorder, may also be associated with intestinal BD [ 3 – 6 ]. Intestinal BD associated with trisomy-8-positive MDS is refractory to various immunosuppressive treatments, including tumor necrosis factor (TNF) inhibitors, and some patients require hematopoietic stem cell transplantation to achieve complete remission [ 5 – 7 ].…”