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Familial Hypercholesterolaemia In Children And Adolescents: A European Atherosclerosis Society Consensus Statement
Publication . Wiegman, Albert; Bourbon, Mafalda; Freiberger, Tomas; Gidding, Samuel S; Greber-Platzer, Susanne; Groselj, Urh; Holven, Kirsten B.; Hudgins, Lisa C.; Humphries, Steve E.; Hutten, Barbara A.; Ibarretxe, Daiana; Pederiva, Cristina; Peretti, Noel; Raal, Frederick J.; Ramaswami, Uma; Sanin, Veronika; Santos, Raul D.; Steinhagen-Thiessen, Elisabeth; Watts, Gerald F.; Perkins, Rosie; Benn, Marianne; Binder, Christoph J.; Romeo, Stefano; Lennep, Jeanine E. Roeters van
Familial hypercholesterolaemia (FH) is a common genetic disorder characterized by lifelong elevated LDL cholesterol (LDL-C) concentrations. FH exists in two forms: heterozygous FH (HeFH), which affects around 1 in 300 people worldwide, and homozygous FH (HoFH), which affects around 1 in 300 000. Individuals with FH are at increased risk of premature atherosclerotic cardiovascular disease (ASCVD) and death, and those with HoFH are, if untreated, at extreme risk of ASCVD manifestations even before adulthood. Early diagnosis and treatment in childhood can extend or normalize life expectancy, but limited awareness, underdiagnosis, and undertreatment remain major challenges. This consensus statement aims to address these challenges, supported by increased knowledge of the pathogenesis of FH and the availability of an increasing range of lipid-lowering therapies (LLTs) that can be used from early ages. To increase the detection rate of FH, all countries are encouraged to establish a paediatric screening programme and, given that current diagnostic criteria often fail to identify children with an FH-causing genetic variant, revised diagnostic criteria are presented. Updated LDL-C treatment goals are proposed, and the importance of starting LLTs before puberty in children with HeFH, and, if needed, from 6 years, is highlighted. Guidance on how to manage FH is provided, including treatment algorithms for use in children with either HeFH or HoFH and a discussion on how to promote a smooth transition to adult care. Early detection and optimal treatment as advocated in this consensus statement are crucial to improving life expectancy for children and adolescents with FH.
Lynch Syndrome: An update of underlying molecular mechanisms, phenotypes and methods to classify variants of uncertain significance
Publication . Rodrigues, Paulo; Matos, Paulo; Gonçalves, João; Jordan, Peter
In 2022, colorectal cancer (CRC) was the third most common type of cancer worldwide and the second most common in Europe. CRC ranked as the second leading cause of cancer-related deaths both worldwide and in Europe, with 904,019 and 247,966 deaths, respectively. The majority of CRC cases are sporadic (60–75%); however, 10–35% of CRC are estimated to result from the interaction of heritable and environmental factors. Among these, 5–6% are caused by inherited variants in genes that predispose to the development of CRC. Among the known inherited causes, Lynch Syndrome (LS), formerly known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is the most frequent and accounts for approximately 3% of all CRC. Here we review and update on multiple aspects of LS in the context of CRC, including its genetic and molecular basis, current guidelines for molecular screening and variant classification. Furthermore, we review functional assays that have been used to determine the biological impact of genetic variants of uncertain significance (VUS) and discuss future perspectives in the field.
SARS-CoV-2 serological 6-months follow-up study of a hospital-based cohort of healthcare workers following 2023 COVID-19 vaccination program
Publication . Santos, João Almeida; Gaio, Vânia; Amaral, Palmira; Henriques, Camila; Guiomar, Raquel; Machado, Ausenda
Objective: Healthcare workers (HCWs) have a higher risk of SARS-CoV-2 infection due to their direct contact with patients. On the other hand, they can also act as a source of in-hospital transmission. We assessed SARS-CoV-2 serological status of HCWs at a Portuguese central hospital before vaccination, three and six months after the 2023 COVID-19 booster vaccination program.
Methods: We conducted a serological follow-up study among a cohort of HCWs from a Portuguese central hospital, with three rounds of testing: pre-COVID-19 vaccination (September/October 2023), three months (January/February 2024), and six months (April/May 2024) post-vaccination. During follow-up, only participants who underwent pre-vaccination serology and were vaccinated were included.
SARS-CoV-2 spike receptor-binding domain (anti-RBD/S) protein-specific IgG antibodies were measured (upper limit of detection 40000 AU/mL). Descriptive statistics and Pearson Chi-Square test analysis were performed.
Results: All participants (n=177, median age: 47 years, 77,4% females) had the complete primary COVID-19 vaccination with 78,0% having received 2 additional booster doses prior to 2023 vaccination program. At pre-vaccination, all HCWs had anti-RBD/S IgG antibodies with 11,9% (n=21) presenting a concentration >40000 AU/mL. Three months later, 35,0% HCWs (n=62) underwent retesting, with 40,3% presenting anti-RBD/S IgG antibody concentrations >40000 AU/mL. After six months, 26,6% HCWs (n=47) repeated testing, with 21,3% (n=10) having antibody concentrations >40000 AU/mL. The differences in anti-RBD/S IgG antibody concentrations between the three rounds of testing were significant.
Conclusions: Three months post-COVID-19 2023 autumn vaccination, an increase in the concentration of anti-RBD/S antibodies was identified among HCW, but after six months this concentration decreased. These results are in line with the expected decay of antibodies over time after 3 months of vaccination and reinforce the importance of revaccination in HCWs.
Serological evidence of SARS-CoV-2 infection in a hospital based cohort study of healthcare workers following the 2023 COVID-19 vaccination program
Publication . Almeida Santos, João; Gaio, Vânia; Amaral, Palmira; Henriques, Camila; Guiomar, Raquel; Machado, Ausenda
Objective: Healthcare workers (HCWs) are a high-risk population to acquire SARS-CoV-2 infection and becoming a focus of transmission. It is therefore important to monitor these professionals, especially due to asymptomatic infections. The objective the study was to assess SARS-CoV-2 infection rates in healthcare professionals at a central Portuguese hospital using serological tests, three and six months after the 2023 COVID-19 booster vaccination program.
Methods: A prospective cohort study was established through serological follow-up in a cohort of healthcare professionals from a central Portuguese hospital, with three rounds of tests: pre-COVID-19 vaccination (September/October 2023), 3 months (January/February 2024) and 6 months (April/May 2024) post-vaccination. IgG antibodies specific to the SARS-CoV-2 nucleocapsid protein (anti-N) were measured. Data was analyzed trough descriptive statistics (frequency, mean, percentages) and infection rates at each testing moment (0, 3 and 6 months).
Results: At baseline, all participants (n=177, median age: 47years, 77,4% females) had the complete primary COVID-19 vaccination, with 78% having received 2 additional booster doses prior to 2023 vaccination program. Pre vaccination, 48,6% (86/177) of HCWs had detectable anti-N IgG antibodies, of which 24,4% (21/86) self-reported having had a SARS-Cov-2 infection in 2022/2023. After 3 months, 17,7% (n=11/62) had detectable anti-N IgG antibodies although being negative in the pre-vaccination testing. After 6 months, 4,3% (n=2/47) had detectable anti-N IgG antibodies but were negative in the previous two rounds.
Conclusions: During the study period, several cases of SAR-CoV-2 infection (n=13) were identified serologically among the HCW monitored, without concomitant signs and symptoms that would allow the identification of a potential infection. These results support that monitoring the infection among HCW (regardless of history of symptoms) can provide valuable information for assessing the level of exposure among hospital personnel and identifying high-risk departments. This information could allow early intervention by, for example, reminding and reinforcing the importance of personal protection standards for HCWs.
Boletim Epidemiológico Observações: Vol. 15, Nº 39, jan-abr 2026
Publication . Instituto Nacional de Saúde Doutor Ricardo Jorge
Observações é uma publicação científica do INSA, IP, que visa contribuir para o conhecimento da saúde da população, os fatores que a influenciam, a decisão e a intervenção em Saúde Pública, assim como a avaliação do seu impacte na população portuguesa. Através do acesso público e gratuito a resultados científicos gerados por atividades de observação em saúde, monitorização e vigilância epidemiológica nas áreas de atuação do Instituto - Alimentação e Nutrição, Doenças Infeciosas, Genética Humana, Saúde Ambiental, Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Epidemiologia, Investigação em Serviços e Políticas de Saúde - é dada especial atenção à disseminação rápida de informação relevante para a resposta a temas de relevo para a saúde da população portuguesa, tendo como principal alvo todos os profissionais, investigadores e decisores intervenientes na área da Saúde Pública em Portugal.