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Epidemiologia, Fatores de Risco e Agregação Familiar da Osteoartrose Avançada da Anca e Joelho: a Realidade da Ilha Terceira
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Abstract(s)
Das doenças músculo-esqueléticas, a osteoartrose (OA) é a mais prevalente, sendo uma das principais causas de incapacidade nos adultos. Em média, as pessoas começam a apresentar sintomas de dor e diminuição da mobilidade e função articular aos 55 anos, implicando uma diminuição da qualidade de vida e produtividade. O tratamento da OA consiste apenas no controlo da dor e, na doença avançada, na substituição articular (artroplastia), não existindo atualmente medicamentos capazes de modificar a doença.
Desenhámos um estudo observacional de avaliação - transversal, de base hospitalar, com o objetivo geral de caracterização demográfica, epidemiológica e clínica da OA avançada da anca e do joelho na população da ilha Terceira. A amostra foi constituída por doentes naturais e residentes na ilha Terceira, com diagnóstico de OA avançada da anca e/ou do joelho. Um total de 254 doentes, 58 doentes com OA avançada da anca e 196 doentes com OA avançada do joelho, foram avaliados em consulta. Foi aplicado um formulário de recolha de dados sociodemográficos e clínicos e avaliados exames de imagem e parâmetros analíticos. Estes dados permitiram fazer uma caracterização demográfica, de fatores de risco e morfológica dos doentes, assim como uma definição de fenótipo: “lesão de cartilagem”, “remodelação óssea”, “inflamação”, “dor”. A análise de agregação familiar também foi efetuada. Por se ter identificado uma distribuição geográfica não uniforme no risco de desenvolvimento destas doenças na ilha, foram criados e comparados clusters de doentes, com base nesse risco (OR normal, aumentado e diminuído).
Encontrámos na ilha Terceira uma prevalência de OA avançada da anca de 0,51/1000 habitantes e uma prevalência de OA avançada do joelho de 1,64/1000 habitantes, valores superiores aos identificados em Portugal, a partir de dados do estudo EpiReumaPT. Ser natural de Agualva, Vila Nova, Fontinhas, Vila de S. Sebastião ou Santa Bárbara aumenta o risco de desenvolver OA; ser natural de Santa Luzia, São Pedro, São Bento, Terra Chã, Santa Cruz da Praia da Vitória ou Porto Matins diminui o risco de desenvolver OA; ser natural das restantes freguesias da ilha acarreta um OR semelhante ao valor médio verificado na ilha Terceira. Tanto na OA avançada da anca como na OA avançada do joelho confirmámos que os fatores de risco estão presentes numa proporção muito significativa de doentes e sobrepõem-se àqueles identificados por outros autores, nomeadamente o excesso de peso/obesidade, a sobrecarga articular derivada de atividades profissionais ou desportos de alto impacto e as alterações morfológicas causadoras de incongruência articular. No que se refere às características morfológicas na OA da anca e na OA do joelho encontrámos uma proporção significativa de doentes com doença bilateral, associada a poliosteoartrose e a calcificações peri-articulares. O fenótipo mais frequentemente encontrado na OA da anca foi a associação entre lesão da cartilagem e remodelação óssea (41,4%); na OA do joelho os fenótipos mais frequentes foram a remodelação óssea (23,0%), a degradação da cartilagem (22,4%) e a remodelação óssea com inflamação (23,5%).
Na comparação entre os três grupos com base no OR para desenvolvimento da doença evidenciou-se, no grupo de doentes das freguesias com OR aumentado, uma idade ao início de sintomas significativamente mais precoce, padrões de fatores de risco específicos, características morfológicas e fenotípicas particulares e maior agregação familiar. Isto levou-nos a ponderar que nestas freguesias poderá haver uma contribuição genética mais significativa para o aparecimento da OA, por maior frequência de variantes de risco, o que poderá estar eventualmente relacionado com algum isolamento geográfico. As características morfológicas encontradas, com envolvimento de várias articulações, remodelação óssea predominante e calcificações ectópicas, sugerem eventual presença de variantes genéticas de risco relacionadas com aspetos da formação e remodelação do osso e da cartilagem. A proporção muito alta de doentes com poliosteoartrose e calcificações ectópicas exuberantes, nas freguesias com OR aumentado, leva-nos a concluir que pode haver uma relação com os achados de Bruges-Armas e colegas relativos a outras patologias reumáticas prevalentes na ilha e com apresentações atípicas (condrocalcinose e hiperostose esquelética idiopática difusa).
Como perspetivas futuras, que derivam deste estudo, consideramos relevante um estudo de base populacional, de âmbito regional (multicêntrico), para caracterização epidemiológica detalhada destas doenças na região; seria igualmente importante efetuar estudos de genética e epigenética, com particular enfoque nos doentes naturais das freguesias com alto risco de desenvolvimento de OA e comparando com a restante população. Os resultados obtidos neste estudo permitiram-nos ainda identificar os descendentes dos doentes com OA avançada como um grupo de população com risco relevante de desenvolvimento de OA. Do ponto de vista de investigação, desenhar estudos epidemiológicos e de análise de biomarcadores neste grupo de familiares com doença ligeira seria uma área a explorar. Além disso, estas pessoas devem ser avaliadas clinicamente, para atuar-se precocemente sobre os fatores de risco modificáveis de forma prevenir a progressão para doença grave.
ABSTRACT: Osteoarthritis (OA) is the most prevalent musculoskeletal diseases. Is one of the main causes of disability in adults. On average, people begin to experience symptoms of pain, decreased mobility and joint function at the age of 55 years old, with consequent decrease on quality of life and productivity. Treatment for OA consists of pain control and, in advanced disease, joint replacement (arthroplasty), because currently there are no disease-modifying medications. We designed an observational, cross-sectional, hospital-based study, with the general objective of doing a demographic, epidemiological and clinical characterization of advanced hip and knee OA in the population of Terceira Island. The sample consisted of patientes, natives and residents of Terceira island, with the diagnose of advanced hip and/or knee OA. A total of 254 patients, 58 with advanced hip OA and 196 with advanced knee OA, were evaluated in a medical appointment. A sociodemographic and clinical data collection form was applied and imaging and analytical exams were evaluated. These data allowed for a demographic, risk factor and morphological characterization of patients, as well as a definition of phenotype: “cartilage injury”, “bone remodeling”, “inflammation”, “pain”. A family aggregation assessment was also carried out. As a non-uniform geographic distribution in the risk of developing these diseases on the island was identified, clusters of patients were created and compared, based on this risk (normal, increased and decreased OR). We found a prevalence of advanced hip OA of 0.51/1000 inhabitants and a prevalence of advanced knee OA of 1.64/1000 inhabitants, values higher than those identified in Portugal, based on data from the EpiReumaPT study. Being born in Agualva, Vila Nova, Fontinhas, Vila de S. Sebastião or Santa Bárbara increases the risk of developing OA; being born in Santa Luzia, São Pedro, São Bento, Terra Chã, Santa Cruz da Praia da Vitória or Porto Matins reduces the risk of developing OA; being a native of the other villages on the island leads to an OR similar to the average value found on Terceira Island. In both advanced hip OA and advanced knee OA, we confirmed that risk factors are present in a very significant proportion of patients and overlap with those identified by other authors, namely excess weight/obesity, joint overload resulting from professionals activities or high-impact sports and morphological changes causing joint incongruity. With regard to morphological characteristics in hip OA and knee OA, we found a significant proportion of patients with bilateral disease, associated with polyosteoarthrosis and peri-articular calcifications. The most frequently found phenotype in hip OA was the association between cartilage damage and bone remodeling (41.4%); in knee OA, the most common phenotypes were bone remodeling (23.0%), cartilage degradation (22.4%) and bone remodeling with inflammation (23.5%). In the comparison between the three groups based on the OR for the development of the disease, it was evident, in the group of patients from the villages with an increased OR, a significantly lower age at the onset of symptoms, a specific pattern of risk factors, particular morphological and phenotypic characteristics and greater family aggregation. This led us to consider that in these patients there may be a more significant genetic contribution to the emergence of OA, due to a greater frequency of risk variants, which could possibly be related to some geographic isolation and consequent endogamy. The morphological characteristics found, with involvement of several joints, predominant bone remodeling and ectopic calcifications, suggest the possible presence of genetic risk variants related to aspects of the formation and remodeling of bone and cartilage. The very high proportion of patients with polyosteoarthrosis and exuberant ectopic calcifications, in the villages with increased OR, leads us to conclude that there may be a relationship with the findings of Bruges-Armas and colleagues regarding other rheumatic pathologies prevalent on the island and with atypical presentations (chondrocalcinosis and diffuse idiopathic skeletal hyperostosis). As future perspectives, which derive from this study, we consider to be relevant to perform a population-based, regional (multicenter) study, for a detailed epidemiological characterization of these diseases in the region; It would also be important to carry out genetic and epigenetic studies, with particular focus on patients from villages at high risk of developing OA and comparing them with the rest of the population. The results obtained in this study also allowed us to identify the descendants of patients with advanced OA as a population group with a relevant risk of developing OA. From a research point of view, designing epidemiological and biomarker analysis studies in this group of family members with mild disease would be an area to explore. Furthermore, these people must be clinically evaluated to act early on modifiable risk factors to prevent progression to serious disease.
ABSTRACT: Osteoarthritis (OA) is the most prevalent musculoskeletal diseases. Is one of the main causes of disability in adults. On average, people begin to experience symptoms of pain, decreased mobility and joint function at the age of 55 years old, with consequent decrease on quality of life and productivity. Treatment for OA consists of pain control and, in advanced disease, joint replacement (arthroplasty), because currently there are no disease-modifying medications. We designed an observational, cross-sectional, hospital-based study, with the general objective of doing a demographic, epidemiological and clinical characterization of advanced hip and knee OA in the population of Terceira Island. The sample consisted of patientes, natives and residents of Terceira island, with the diagnose of advanced hip and/or knee OA. A total of 254 patients, 58 with advanced hip OA and 196 with advanced knee OA, were evaluated in a medical appointment. A sociodemographic and clinical data collection form was applied and imaging and analytical exams were evaluated. These data allowed for a demographic, risk factor and morphological characterization of patients, as well as a definition of phenotype: “cartilage injury”, “bone remodeling”, “inflammation”, “pain”. A family aggregation assessment was also carried out. As a non-uniform geographic distribution in the risk of developing these diseases on the island was identified, clusters of patients were created and compared, based on this risk (normal, increased and decreased OR). We found a prevalence of advanced hip OA of 0.51/1000 inhabitants and a prevalence of advanced knee OA of 1.64/1000 inhabitants, values higher than those identified in Portugal, based on data from the EpiReumaPT study. Being born in Agualva, Vila Nova, Fontinhas, Vila de S. Sebastião or Santa Bárbara increases the risk of developing OA; being born in Santa Luzia, São Pedro, São Bento, Terra Chã, Santa Cruz da Praia da Vitória or Porto Matins reduces the risk of developing OA; being a native of the other villages on the island leads to an OR similar to the average value found on Terceira Island. In both advanced hip OA and advanced knee OA, we confirmed that risk factors are present in a very significant proportion of patients and overlap with those identified by other authors, namely excess weight/obesity, joint overload resulting from professionals activities or high-impact sports and morphological changes causing joint incongruity. With regard to morphological characteristics in hip OA and knee OA, we found a significant proportion of patients with bilateral disease, associated with polyosteoarthrosis and peri-articular calcifications. The most frequently found phenotype in hip OA was the association between cartilage damage and bone remodeling (41.4%); in knee OA, the most common phenotypes were bone remodeling (23.0%), cartilage degradation (22.4%) and bone remodeling with inflammation (23.5%). In the comparison between the three groups based on the OR for the development of the disease, it was evident, in the group of patients from the villages with an increased OR, a significantly lower age at the onset of symptoms, a specific pattern of risk factors, particular morphological and phenotypic characteristics and greater family aggregation. This led us to consider that in these patients there may be a more significant genetic contribution to the emergence of OA, due to a greater frequency of risk variants, which could possibly be related to some geographic isolation and consequent endogamy. The morphological characteristics found, with involvement of several joints, predominant bone remodeling and ectopic calcifications, suggest the possible presence of genetic risk variants related to aspects of the formation and remodeling of bone and cartilage. The very high proportion of patients with polyosteoarthrosis and exuberant ectopic calcifications, in the villages with increased OR, leads us to conclude that there may be a relationship with the findings of Bruges-Armas and colleagues regarding other rheumatic pathologies prevalent on the island and with atypical presentations (chondrocalcinosis and diffuse idiopathic skeletal hyperostosis). As future perspectives, which derive from this study, we consider to be relevant to perform a population-based, regional (multicenter) study, for a detailed epidemiological characterization of these diseases in the region; It would also be important to carry out genetic and epigenetic studies, with particular focus on patients from villages at high risk of developing OA and comparing them with the rest of the population. The results obtained in this study also allowed us to identify the descendants of patients with advanced OA as a population group with a relevant risk of developing OA. From a research point of view, designing epidemiological and biomarker analysis studies in this group of family members with mild disease would be an area to explore. Furthermore, these people must be clinically evaluated to act early on modifiable risk factors to prevent progression to serious disease.
Description
Dissertação de Mestrado, Ciência Biomédicas, 11 de dezembro de 2024, Universidade dos Açores.
Keywords
Osteoartrite Coxartrose Gonartrose Artroplastia Total da Anca Artroplastia Total do Joelho