SUMMARYWe report two cases of siblings presenting coexisting non-radiographic axial spondyloartrhritis and joint hypermobility syndrome, complaining of back pain with morning stiffness, enthesitis, peripheral arthralgia, high erythrocyte sedimentation rate and C-reactive protein level and positive HLA-B27. The association of these two conditions is rare, but especially interesting in view of their contrasting features, one causing axial skeleton stiffness, the other a wider range of peripheral joint movements. Coexistence of these two opposite disorders causes confusion in diagnosis and management, resulting in lower quality of life for patients, as they are in pain from the early stages. Therefore, this association is suspected in young individuals with back pain and physical exam findings of peripheral joint hypermobility and axial skeleton loss of mobility.
Key words:Non-radiographic axial spondyloarthritis; Spondyloarthritis; HLA-B27; Hypermobility; Joint hypermobility syndrome. Reumatismo, 2017; 69 (3): 126-130 n INTRODUCTION T he term non-radiographic axial spondyloarthritis (nrAxSpA) was created to designate patients suffering from early stages of ankylosing spondylitis (AS), which is a chronic inflammatory disease that affects the axial skeleton, peripheral joints and extra articular structures, characterized by sacroiliitis, enthesitis, uveitis, psoriasis, structural and functional impairments, causing low quality of life. It affects people younger than 45 years old with a ratio of roughly 2 to 1 in favor of males (1, 2). Strong familiarity of AS over three generations was demonstrated in a study and the molecule HLA B27, first described over 40 years ago, is the most important gene predisposing to axial spondyloarthritis (AxSpA). However, no consensus has been reached to date about the role of HLA B27 (1-3). The joint hypermobility syndrome (JHS) was first described in 1967 by Kirk et al. (4), who defined it as an increased range of movement of one or more joints seen in childhood, and declining in adulthood (5, 6). It is more frequently found in women and more prevalent among people of Asian and African descent, compared to Caucasians (6, 7). Also known as benign joint hypermobility syndrome (BJHS), this condition requires a clinical diagnosis that is carried out according to Brighton criteria, which include generalized joint hypermobility, resulting in recurrent joint dislocation, chronic limb and joint pain and skin involvement (8). Type III EhlersDanlos syndrome (EDS) is characterized by joint hypermobility, lax skin, a hereditary family pattern and may be associated with dysautonomia and fatigue (5). Some authors consider BJHS and EDS as synonyms (8, 9). The coexistence of SpA and JHS is rare, with few reports in the literature, evidencing how difficult diagnosis may be, as these