Usefulness of Adalimumab for Treating a Case of Intestinal Behçet's Disease With Trisomy 8 Myelodysplastic Syndrome

Abstract

Behçet's disease (BD) is a systemic vasculitis, while myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic disorders characterized by ineffective hematopoiesis. Some studies suggest a relationship between MDS and BD, especially intestinal BD, and trisomy 8 seems to play an important role in both diseases. There are several reports on patients with BD comorbid with MDS involving trisomy 8 that frequently have intestinal lesions refractory to conventional medical therapies. Tumor necrosis factor (TNF)-α is strongly involved in the pathophysiology of several autoimmune diseases such as rheumatoid arthritis, inflammatory bowel disease, and BD. In addition, TNF-α plays an important role in the pathophysiology of MDS by inhibiting normal hematopoiesis and inducing the programmed cell death of normal total bone marrow cells and normal CD34+ cells. Recent clinical reports demonstrate the favorable effect of TNF-α antagonists in patients with refractory intestinal BD and in those with MDS. We present the case of a patient with intestinal BD and MDS involving trisomy 8 who was successfully treated with adalimumab.

Trisomy 8-Associated Intestinal Behcet’s Disease That Achieved Complete Remission With Mesalazine

“…Anti-TNF-α antagonists, azacytidine and bone marrow transplantation have been reported to be effective for these in- tractable cases [13][14][15]. However, in the present case, the GI involvement successfully responded to mesalazine at 3,000 mg. To our best knowledge, this was the first case of mesalazine therapy for a patient with intestinal BD associated with MDS and positivity for trisomy 8.…”

“…Patients with intestinal BD have been demonstrated to respond effectively and safely to adalimumab and infliximab [11,12], but most of them who associated MDS and concomitant trisomy 8 have experienced refractoriness to conventional treatment [13]. For these intractable cases, adalimumab and azacytidine were reportedly effective as treatment for the MDS [14,15]. However, no information is currently available regarding the achievement of complete remission with mesalazine for intestinal BD associated with MDS and concomitant trisomy 8.…”

Updated treatment strategies for intestinal Behçet’s disease

“…At weeks 52 and 100, 12 of 20 patients (60%) and eight of 20 patients (40%) showed marked improvement, while four of 20 patients (20%) and three of 20 patients (15%) showed complete remission, respectively ( Table 2 ) [ 46 ]. In addition, Kimura et al [ 95 ] reported that a patient with intestinal BD and MDS successfully improved in GI symptoms, CRP levels, leukocytopenia, and anemia 4 months after starting adalimumab.…”

The burden of autoimmunity in myelodysplastic syndromes

“…This condition is usually described in patients showing a specific genetic pattern such as trisomy 8 but can be also observed in subjects with different chromosomal or molecular lesions . Some studies specifically focused on the treatment outcome, showing a general refractoriness of the BD in MDS patients, while more recently a possible efficacy of the anti‐Tumor Necrosis Factor (TNF) antibody adalimumab was suggested . Interestingly, the characteristics of this disorder in the MDS population were comprehensively evaluated in a cohort of Japanese patients.…”

“…[65][66][67][68][69] Some studies specifically focused on the treatment outcome, showing a general refractoriness of the BD in MDS patients, 70 while more recently a possible efficacy of the anti-Tumor Necrosis Factor (TNF) antibody adalimumab was suggested. 71 Interestingly, the characteristics of this disorder in the MDS population were comprehensively evaluated in a cohort of Japanese patients. The average age at onset was 42.6 years, which was 6.9 years later than for all patients with BD.…”