Características clínicas y marcadores genéticos de susceptibilidad de la arteritis de células gigantes de fenotipo extracraneal

Resumo

Giant cell arteritis (GCA) is a large-vessel vasculitis that is the most common vasculitis among patients over 50 years of age in our setting. Two different clinical patterns of GCA have been described: the classic cranial phenotype and the more recently described extracranial phenotype. Compared with cranial GCA, patients with the extracranial GCA phenotype are often younger and more commonly present with refractory polymyalgia symptoms associated with constitutional syndrome and atypical manifestations such as predominant pelvic girdle involvement, inflammatory low back pain and limb claudication. These differences suggest that a different genetic susceptibility may exist in cranial and extracranial GCA. The study carried out reveals that cranial and extracranial GCA share the same association with HLA class II and class I genes; specifically with HLA-DRB1*04:01 and HLA-B*15:01. These alleles additively increase the risk of GCA, regardless of the clinical phenotype. VEGF haplotypes (CGC and CGT) are related to an increased risk of severe ischemic complications in both cranial and extracranial GCA but have no effect on the clinical phenotype expression of GCA.