High Incidence of Gastrointestinal Ulceration and Cytogenetic Aberration of Trisomy 8 as Typical Features of Behçet’s Disease Associated with Myelodysplastic Syndrome: A Series of 16 Consecutive Chinese Patients from the Shanghai Behçet’s Disease Database and Comparison with the Literature

Received Jan 11, 2018; Revised Feb 24, 2018; Accepted Mar 4, 2018

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1. Introduction

Behçet disease (BD) is a multisystem inflammatory disorder with mucocutaneous, articular, gastrointestinal, neurologic, and vascular manifestations [1–3]. It typically presents with recurrent oral and genital ulcers and relapsing uveitis [1–3]. BD was first comprehensively described by the dermatologist Hulusi Behçet in 1937. The disease has high prevalence in countries lying along the ancient Silk Road, a route of travel and commerce, extending from the eastern Mediterranean to East Asia [2]. The incidence is higher in East Asia (13.5–20 per 100,000) than in the US and UK (0.12–0.64 per 100,000) [4, 5]. Gastrointestinal (GI) BD is characterized by GI ulcerations. The prevalence of GI BD varies from 3% to 25% in different populations [2, 6–8]. These differences in regional involvement could be due to differences in criteria used to diagnose GI BD and to differences in genetics among various populations [9, 10]. GI involvement can result in life-threatening emergencies such as intestinal perforation and massive bleeding [11].

Myelodysplastic syndrome (MDS) is a blood disorder characterized by impaired generation and maturation of hematopoietic cells in the bone marrow, leading to peripheral blood cytopenia [12]. It may also transform into acute leukemia [12]. Previously, BD and MDS were thought to be two different diseases, but it is now believed that there may be some connection between them since MDS patients can develop autoimmune diseases such as BD or systemic lupus erythematosus, rheumatoid arthritis, relapsing polychondritis, and vasculitis [13–16]. Indeed, most patients with BD or MDS have GI ulcers [17, 18]. In addition, it is unclear whether immunosuppressive agents could play a role in this association [19].

Analysis of a number of case reports has shown an association between trisomy 8 and intestinal BD with MDS [18, 20]. Indeed, trisomy 8 in BD and MDS has been reported in 87% of the patients [18], compared with 7–9% of patients with primary MDS, but without BD [21, 22]. Trisomy 8 with BD but without MDS has also been reported [23, 24].

Many studies have been published...