1 - Centro Hospitalar Universitário Lisboa Norte (CHULN), Centro Académico de Medicina de Lisboa, ERN-RITA full members, Paediatric Rheumatology Unit, Lisbon, Portugal;
2 - Centro Hospitalar Universitário Lisboa Norte (CHULN), Centro Académico de Medicina de Lisboa, ERN-RITA full members, Rheumatology Department, Lisbon, Portugal;
3 - Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Rheumatology Research Unit, Lisbon, Portugal;
4 - Centro Hospitalar Universitário Lisboa Norte (CHULN), Centro Académico de Medicina de Lisboa, Paediatric Department, Lisbon, Portugal;
5 - Centro Hospitalar Universitário Lisboa Central (CHULC), Paediatric Rheumatology Unit, Paediatric Department, Lisbon, Portugal de Lisboa Central, Lisboa
- EULAR 2023 - European Congress of Rheumatology
- Poster
- Publicação sob forma de abstract
Background: Systemic autoinflammatory diseases (SAIDs) are rare inherited disorders characterized by periodic or chronic multisystemic inflammation. The diagnosis is based on typical phenotypes and often supported by genetic testing. However, a distinct diagnosis cannot be met in half of these patients, being classified as undefined SAIDs (uSAIDs).
Objectives: To analyse the clinical and genetic characteristics of a portuguese cohort of uSAID.
Methods: Patients followed up in 2 SAIDs clinics with recurrent or persistent episodes of systemic inflammation associated with serum acute phase reactants elevation who do not meet the PRINTO diagnosis criteria for any well-defined SAIDs were classified as having uSAID. Patients who do not have any pathogenic gene mutation or have 1 variant of uncertain significance of a gene related to a well-known autosomal dominant SAID were included, as well as patients with pending genetic analysis. Categorical variables are described as frequencies and percentages and continuous variables as median (IQR1, IQR3).
Results: This study included 24 patients, of which 12 (50.0%) were female and 12 (50.0%) were male. The median age at disease onset was 2.4 (IQR: 1.4, 8.2) years old, the median age at diagnosis was 6.5 (IQR: 2.4, 9.9) years old and the median time of disease duration was 6.8 (IQR: 9, 12.4) years. The majority of the patients (n=14, 58.3%) had episodes of recurrent systemic inflammation lasting 2 to 5 days. Two patients exhibited persistent inflammation. Regarding patients with recurrent inflammation, 10 (41.7%) had more than 12 episodes per year, 7 (29.2%) had 2 to 6 episodes per year and 4 (16.6%) had 7 to 12 episodes per year. The remaining patient had an episode every 2 years. In 13 (54.2%) the intercritical interval was regular, with a median of 21 days. Besides fever, the most commonly reported clinical manifestations were mucocutaneous lesions (n=24) including mouth ulcers (n=11), abdominal pain (n=12), lymphadenopathy (n=10) and arthralgia (n=10). C-reactive protein was elevated in all patients during attacks, erythrocyte rate sedimentation in 20 (83.3%) and amyloid A protein in 10 (41.7%). In 14 (63.6%) patients, acute phase reactants normalized during the intercritical phase. Genetic analysis was performed in 22 patients of this cohort
Palavras Chave: Undefined systemic autoinflammatory disease, genetic analysis, colchicine, IL-1 inhibitors