Scripties UMCG - Rijksuniversiteit Groningen
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Distribution of HLA Subtypes in Giant Cell Arteritis and Polymyalgia Rheumatica in Relation to Disease Activity

(2018) Brand, L.M. (Liv Marit)

Objective. Giant cell arteritis (GCA) and polymyalgia rheumatica (PMR) are closely associated syndromes that mainly affect elderly people. The cause of both disorders remains not fully understood. Many reports of familial aggregation with (partly) sharing of human leukocyte antigen (HLA) haplotype in both GCA and PMR indicate a genetic component in the pathogenesis. An association between GCA and PMR and the HLA-DRB1*04 allele is described most frequently. The aim of this prospective study was to determine whether the HLA-DRB1*04 allele in GCA and PMR patients is associated with disease activity. Outcomes for disease activity are inflammation markers (CRP, ESR and IL-6), occurrence of relapse, glucocorticoid dosage and ischemic symptoms (among which vision loss).
Methods. Ninety-three patients were included and genotyped: 35 newly-diagnosed GCA patients, 30 newly-diagnosed PMR patients and 28 GCA/PMR patients who already received glucocorticoids at baseline. We also genotyped 74 aged-matched healthy controls.
Results. In the GCA group 56% carried the HLA-DRB1*04 allele, which is significantly higher than the 32% in the healthy controls. The percentage of DR4 positive PMR patients was not significant different (44%). No differences were found regarding inflammation markers between the DR4 positive and DR4 negative patients. During the first year after diagnosis DR4 positive GCA patients tend to relapse more often compared to DR4 negative patients (p=0.07). Also DR4 positive PMR patients appear to need a higher dose of glucocorticoids (GC) after one year of disease. However, the cumulative GC dose after one year in these patients was not higher. With regard to ischemic symptoms no significant differences were found.
Conclusion. These Dutch data confirm that the HLA-DRB1*04 allele is more frequent in GCA. We found a small trend that HLA-DB1*04 is associated with more severe disease activity.

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