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A familial case of takayasu arteritis: HLA-related genetic susceptibility and efficacy of anti-TNFα treatment in two italian siblings

Myriam Facchinetti, Pierantonio Ostuni & Gabriella Cardinale

The aetiology of Takayasu Arteritis (TA) remains poorly understood. An autoimmune origin is the main hypothesis, suggesting an abnormal immune response against unknown antigens present on vessel walls. The genetic contribution is also considered relevant in the TA pathogenesis and is mainly supported by the association with specific patterns of HLA. In Japan and other Asian countries the allele B5, and its split B52, is the most frequent and associates with a severe disease and worse prognosis. Other possible alleles of susceptibility are B39, DRB1*0405 and non-HLA loci, related to cytokine expression (IL6 and IL12 and TNFα). Most of reported familial studies concern Asian patients.

Here we describe the case of a young Italian woman and his brother, both affected by TA, who shared similar clinical features and the same HLA pattern, especially the haplotype HLA-B52 and other alleles (A2, B44, DRB1-14 and DRB1-16). They were both treated with infliximab, after the failure of standard therapy with methotrexate and corticosteroids, achieving a remission of the disease, confirmed by imaging. This familial case may contribute to remark the importance of genetic pattern in the onset of the disease and the efficacy of anti-TNFα treatment in TA patients.