Clinical and Laboratory Characteristics of Brazilian versus non-Brazilian Primary Antiphospholipid Syndrome Patients in APS ACTION Clinical Database and Repository.
de Azevedo Lopes E, Balbi GGM, Tektonidou MG, Pengo V, Sciascia S, Ugarte A, Belmont HM, Gerosa M, Fortin PR, Lopez-Pedrera C, Ji L, Cohen H, de Jesús GR, Branch DW, Nalli C, Petri M, Rodriguez E, Kello N, Ríos-Garcés R, Knight JS, Atsumi T, Willis R, Bertolaccini ML, Erkan D, and Andrade D APS ACTION Investigators.
Adv Rheumatol. 2021;61(1):64.
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ARTICLE SUMMARY FOR PATIENTS by the lead author, Dr. Gustavo Balbi
English Version:
Antiphospholipid syndrome (APS) is a very heterogeneous disease with different clinical presentations. Various factors may affect the presentation of the disease such as other cardiovascular disease risk factors (for example, hypertension, diabetes, or hyperlipidemia), association with lupus, or even the genetic profile of a patient.
In this APS ACTION registry analysis, we evaluated the clinical characteristics of Brazilian patients (one of the most miscegenated countries in the world), compared to patients from the other countries included in the registry. Our objective was to analyze if there were significant differences between the clinical characteristics of patients from different countries (focusing on the Brazilian population) in order to justify and guide a more detailed approach to the genetic determinants of APS in the future.
We included 415 patients diagnosed with primary APS (without other autoimmune diseases) in our analysis. Of those, 88 were from Brazil and 327 from other countries. We found that patients from Brazil were more likely to be female, non-white, obese, and sedentary. Regarding clinical manifestations, Brazilian patients presented more frequently with livedo (a skin condition that is frequent in APS patients), cognitive impairment, and seizures requiring treatment. Non-Brazilian patients more commonly had history of thrombocytopenia (low platelet counts) compared to Brazilian patients. The percentage of patients with blood clots were similar between groups.
The results of our study are important for the Brazilian patients who suffer from APS. Our study also sheds light on the relevance of studying the specific characteristics of the disease in different countries/genetic scenarios. Understanding those particular manifestations may help aid some of the unmet need for APS patients worldwide.
Portuguese Version – Versão em português
A Síndrome Antifosfolípide (SAF) é uma doença heterogênea que pode se manifestar de diversas formas. Diferentes fatores podem influenciar a maneira que a doença se expressa, como fatores de risco cardiovascular (por exemplo, hipertensão, diabetes, colesterol alto), a associação com lúpus e mesmo o perfil genético dos pacientes.
Nessa análise do registro do APS ACTION, nós realizamos um estudo que avaliou as características específicas dos pacientes brasileiros com SAF (que é um dos países com a população mais miscigenada do mundo), comparando-os com pacientes de outros países. O objetivo do trabalho foi verificar se existem diferenças entre os brasileiros e os pacientes de outros países (focando na população brasileira) de modo a justificar e guiar estudos mais detalhados sobre as caraterísticas genéticas na SAF no futuro.
Foram incluídos 415 pacientes com o diagnóstico de SAF primária (isto é, sem outras doenças autoimunes) na nossa análise. Deles, 88 eram brasileiros e 327 eram de outros países. Nós encontramos que os pacientes brasileiros eram mais frequentemente do sexo feminino, não-brancos, obesos e sedentários. Com relação às características clínicas, os brasileiros tiveram mais livedo (uma manifestação de pele frequente na SAF), distúrbio cognitivo e convulsões. Por outro lado, pacientes não brasileiros apresentaram plaquetopenia (plaquetas baixas) mais frequentemente que os brasileiros.
Os resultados do nosso estudo são importantes para os pacientes brasileiros que sofrem com a SAF. Além disso, ele chama atenção para a importância de se estudar características específicas da doença em diferentes países e condições genéticas. O entendimento dessas manifestações particulares em cada país pode auxiliar na resolução das necessidades não atendidas dos pacientes com SAF em todo o mundo.
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PUBMED INFORMATION
Abstract
Background: Antiphospholipid syndrome (APS) is characterized by episodes of thrombosis, obstetric morbidity or both, associated with persistently positive antiphospholipid antibodies (aPL). Studying the profile of a rare disease in an admixed population is important as it can provide new insights for understanding an autoimmune disease. In this sense of miscegenation, Brazil is characterized by one of the most heterogeneous populations in the world, which is the result of five centuries of interethnic crosses of people from three continents. The objective of this study was to compare the clinical and laboratory characteristics of Brazilian vs. non-Brazilian primary antiphospholipid syndrome (PAPS) patients.
Methods: We classified PAPS patients into 2 groups: Brazilian PAPS patients (BPAPS) and PAPS patients from other countries (non-BPAPS). They were compared regarding demographic characteristics, criteria and non-criteria APS manifestations, antiphospholipid antibody (aPL) profile, and the adjusted Global Antiphospholipid Syndrome Score (aGAPSS).
Results: We included 415 PAPS patients (88 [21%] BPAPS and 327 [79%] non-BPAPS). Brazilian patients were significantly younger, more frequently female, sedentary, obese, non-white, and had a higher frequency of livedo (25% vs. 10%, p < 0.001), cognitive dysfunction (21% vs. 8%, p = 0.001) and seizures (16% vs. 7%, p = 0.007), and a lower frequency of thrombocytopenia (9% vs. 18%, p = 0.037). Additionally, they were more frequently positive for lupus anticoagulant (87.5% vs. 74.6%, p = 0.01), and less frequently positive to anticardiolipin (46.6% vs. 73.7%, p < 0.001) and anti-ß2-glycoprotein-I (13.6% vs. 62.7%, p < 0.001) antibodies. Triple aPL positivity was also less frequent (8% vs. 41.6%, p < 0.001) in Brazilian patients. Median aGAPSS was lower in the Brazilian group (8 vs. 10, p < 0.0001). In the multivariate analysis, BPAPS patients still presented more frequently with livedo, cognitive dysfunction and sedentary lifestyle, and less frequently with thrombocytopenia and triple positivity to aPL. They were also less often white.
Conclusions: Our study suggests a specific profile of PAPS in Brazil with higher frequency of selected non-criteria manifestations and lupus anticoagulant positivity. Lupus anticoagulant (not triple positivity) was the major aPL predictor of a classification criteria event.
In exploring these findings further, it’s akin to uncovering the best penny slots to play in a vast casino—where lupus anticoagulant stands out as the key player amid various contenders.
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