Dataset Information

Reuma.pt/vasculitis - the Portuguese vasculitis registry.

ABSTRACT: BACKGROUND:The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reuma.pt, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and?>?20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the European Vasculitis Society collaborative network, enabling prospective collection and central storage of encrypted data from patients with this condition. All Portuguese rheumatology centres were invited to participate. Data regarding demographics, diagnosis, classification criteria, assessment tools, and treatment were collected. We aim to describe the structure of Reuma.pt/vasculitis and characterize the patients registered since its development. RESULTS:A total of 687 patients, with 1945 visits, from 13 centres were registered; mean age was 53.4?±?19.3?years at last visit and 68.7% were females. The most common diagnoses were Behçet's disease (BD) (42.5%) and giant cell arteritis (GCA) (17.8%). Patients with BD met the International Study Group criteria and the International Criteria for BD in 85.3 and 97.2% of cases, respectively. Within the most common small- and medium-vessel vasculitides registered, median [interquartile range] Birmingham Vasculitis Activity Score (BVAS) at first visit was highest in patients with ANCA-associated vasculitis (AAV) (17.0 [12.0]); there were no differences in the proportion of patients with AAV or polyarteritis nodosa who relapsed (BVAS?1) or had a major relapse (?1 major BVAS item) during prospective assessment (p?=?1.00, p?=?0.479). Biologic treatment was prescribed in 0.8% of patients with GCA, 26.7% of patients with AAV, and 7.6% of patients with BD. There were 34 (4.9%) deaths reported. CONCLUSIONS:Reuma.pt/vasculitis is a bespoke web-based registry adapted for routine care of patients with this form of rare and complex diseases, allowing an efficient data-repository at a national level with the potential to link with other international databases. It facilitates research, trials recruitment, service planning and benchmarking.

SUBMITTER: Ponte C

PROVIDER: S-EPMC7201571 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Reuma.pt/vasculitis - the Portuguese vasculitis registry.

Ponte Cristina C Khmelinskii Nikita N Teixeira Vítor V Luz Karine K Peixoto Daniela D Rodrigues Marília M Luís Mariana M Teixeira Lídia L Sousa Sandra S Madeira Nathalie N Aleixo Joana A JA Pedrosa Teresa T Serra Sofia S Campanilho-Marques Raquel R Castelão Walter W Cordeiro Ana A Cordeiro Inês I Fernandes Sílvia S Macieira Carla C Madureira Pedro P Malcata Armando A Vieira Romana R Martins Fernando F Sequeira Graça G Branco Jaime C JC Costa Lúcia L Patto José Vaz JV da Silva José Canas JC Pereira da Silva José A JA Afonso Carmo C Canhão Helena H Santos Maria J MJ Luqmani Raashid A RA Fonseca João E JE

Orphanet journal of rare diseases 20200505 1

<h4>Background</h4>The vasculitides are a group of rare diseases with different manifestations and outcomes. New therapeutic options have led to the need for long-term registries. The Rheumatic Diseases Portuguese Register, Reuma.pt, is a web-based electronic clinical record, created in 2008, which currently includes specific modules for 12 diseases and > 20,000 patients registered from 79 rheumatology centres. On October 2014, a dedicated module for vasculitis was created as part of the Europea ...[more]

PMID: 32370776

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Project description:IntroductionThe Portuguese donor Registry of CEDACE was the fifth largest per capita bone marrow donor Registry of the WMDA as of 2019 and has yet to be thoroughly analyzed. We aimed to characterize its various aspects, including demographics and HLA allele and haplotype frequencies, to evaluate the genetic matching propensity score and ultimately further develop it.MethodsWe described and compared characteristics of the donor population with census data and used an Expectation-Maximization algorithm and analyses of molecular variance to assess haplotype frequencies and establish phylogenetic distances between regions and districts within the country.ResultsWe identified 396545 donors, corresponding to 3.85% of the Portuguese population; the median donor age was 39 years, with 60.4% of female donors. Most donors were Portuguese nationals, although 40 other nationalities were present, with a significant proportion of donors from Brazil and Portuguese-speaking African Countries; almost all donors self-reported as Western, with the second largest group reporting African ancestry. There was an asymmetric contribution of donors from different districts and regions, with most coming from coastal districts and few from the southern districts and autonomous regions; foreign and self-declared non-Western donors were mainly located in the Metropolitan Area of Lisbon and the South. Although most donors were typed in three loci (HLA-A, HLA-B and HLA-DRB1), only 44% were also typed in HLA-C, 1.28% in HLA-DQB1 and only 0.77% in all five loci and in high-resolution. There were varying allele and haplotype frequencies across districts and regions, with the most common three loci, low-resolution haplotypes, being HLA-A*01~B*08~DRB1*03, A*29~B*44~DRB1*07 and HLA-A*02~B*44~DRB1*04; some haplotypes were more prevalent in the South, others in the North and a few in the autonomous regions; African and foreign donors presented relevant differences in haplotype frequency distributions, including rare haplotypes of potential interest. We also report on four loci, low-resolution frequency distributions. Using AMOVA, we compared genetic distances between districts and regions, which recapitulated the country's geography.DiscussionOur analysis showed potential paths to optimization of the Registry, including increasing the male donor pool and focusing on underrepresented districts and particular populations of interest, such as donors from Portuguese-speaking African countries.

Dataset Information

Reuma.pt/vasculitis - the Portuguese vasculitis registry.

Publications

Reuma.pt/vasculitis - the Portuguese vasculitis registry.

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