Sara Dinis

Background: Autoantibodies are central to the diagnosis and risk stratification of systemic sclerosis (SSc), but their prevalence and clinical associations may vary across populations. This study aimed to evaluate the prevalence and immuno-clinical associations of different autoantibodies in the Rheumatic Diseases Portuguese Register systemic sclerosis cohort. Methods: This was a multicentre observational registry-based study that used data from the Reuma.pt SSc module. Patients were divided according to autoantibody status, and associations between autoantibody expression and clinical data were assessed using appropriate statistical tests, with Bonferroni correction applied for multiple comparisons. Multivariable binary logistic regression was performed for clinically relevant outcomes, with adjustment for sex, age at diagnosis and disease duration. Results: A total of 1080 patients were included, 87.5% female, with a mean age at last evaluation of 60.2 ± 14.6 years and a mean disease duration of 12.4 ± 10.0 years. Limited cutaneous SSc was the most frequent clinical category (57.4%), followed by diffuse cutaneous SSc (17.7%), very early diagnosis of systemic sclerosis (VEDOSS; 12.3%), overlap syndromes (9.8%) and SSc sine scleroderma (2.8%). Antinuclear antibodies were present in 93.4% of patients. Anti-centromere antibodies (ACAs) were the most frequent SSc-specific autoantibodies (54.6%), followed by topoisomerase I antibodies (ATAs; 21.8%). ACA positivity was associated with limited cutaneous disease; older age at diagnosis; and lower frequency of interstitial lung disease (ILD), myositis and flexion contractures. ATA positivity was associated with diffuse cutaneous disease, male sex, higher modified Rodnan skin score (mRSS), digital ulcers, flexion contractures, oesophageal involvement and ILD. Among less frequent autoantibodies, anti-Pm/Scl antibodies were associated with myositis, joint involvement, calcinosis and ILD; anti-U1RNP antibodies with younger age, MCTD overlap, myositis and joint involvement; anti-RNA polymerase III antibodies (ARAs) with scleroderma renal crisis and higher mRSS; anti-U3RNP antibodies with diffuse cutaneous disease and renal involvement; and anti-Ku antibodies with overlap syndromes. Conclusions: In this large real-world SSc cohort, autoantibody status was strongly associated with distinct clinical phenotypes, confirming its value for disease stratification. While most established immuno-clinical associations were reproduced, some differences from international cohorts were observed, supporting the need for population-specific validation of autoantibody associations in SSc.

Eduardo Dourado, Carolina Mazeda, Raquel Freitas, Patrícia Martins, Ana Teresa Melo, Liliana Saraiva, Francisca Guimarães, Emanuel Costa, Diogo Esperança Almeid

A 66-year-old male with ankylosing spondylitis (AS) was referred to our department with worsening of low back pain after a low-impact fall 12 months ago. After the injury, he was admitted to the emergency room complaining of severe low back pain and decreased strength of the lower limbs. The lumbar spine X-ray ( Fig. 1) performed on admission revealed a bamboo spine, without evidence of fracture. The patient was discharged and treated conservatively with nonsteroidal anti-inflammatory drugs with partial pain relief. Nevertheless, for persisting pain further investigation was requested and computed tomography (CT) of the lumbar spine ( Fig. 1) revealed syndesmophyte formation and a transvertebral fracture line crossing L4 and L5 vertebral bodies, extending through the posterior elements of L3 and L4. The increased fracture risk in AS patients is due to chronic spine changes, including syndesmophyte formation, ankylosis and osteoporosis [ 1]. Spinal fractures in AS usually involve the three spine columns, and injury to the posterior osteoligamentous component is the hallmark of these fractures, which can be easily missed on conventional X-rays. Thus, patients with AS should be evaluated for acute spinal fractures using CT and/or magnetic resonance imaging following any degree of trauma despite the presence of initial negative imaging methods [ 1, 2].

Interstitial lung disease (ILD) frequently complicates mixed connective tissue disease (MCTD) and contributes to increased mortality. We aimed to identify predictors of ILD in MCTD patients. This is a nationwide, multicentre, retrospective study including patients with an adult-onset MCTD clinical diagnosis who met Sharp’s, Kasukawa, Alarcón-Segovia, or Kahn’s diagnostic criteria and had available chest high-resolution computed tomography (HRCT) data. Univariate and multivariate analyses were conducted. We included 57 MCTD patients, with 27 (47.4%) having ILD. Among ILD patients, 48.1% were asymptomatic, 80.0% exhibited a restrictive pattern on pulmonary function tests, and 81.5% had nonspecific interstitial pneumonia on chest HRCT. Gastroesophageal involvement (40.7% vs. 16.7%, p = 0.043) and lymphadenopathy at disease onset (22.2% vs. 3.3%, p = 0.045) were associated with ILD. Binary logistic regression identified lymphadenopathy at disease onset (OR 19.65, 95% CI: 1.91–201.75, p = 0.012) and older age at diagnosis (OR 1.06/year, 95% CI: 1.00–1.12, p = 0.046) as independent ILD predictors, regardless of gender and gastroesophageal involvement. This study is the first to assess a Portuguese MCTD cohort. As previously reported, it confirmed the link between gastroesophageal involvement and ILD in MCTD patients. Additionally, it established that lymphadenopathy at disease onset and older age at diagnosis independently predict ILD in MCTD patients.

Antiphospholipid antibody syndrome (APS) is a multisystemic autoimmune disease that is characterized by thromboembolic events and/or obstetric morbidity in the presence of antiphospholipid antibodies. The most frequent pulmonary manifestations are pulmonary thromboembolism and pulmonary arterial...

Matilde Bandeira, Eduardo Dourado, Ana T Melo, Patrícia Martins, Vanessa Fraga, José L Ferraro, André Saraiva, Marlene Sousa, Hugo Parente, Catarina Soares, Ana

Introduction: The presence of another rheumatological condition in patients with systemic sclerosis (SSc) is not uncommon. To report a case of a patient with SSc-RA overlap and perform a review of the cases re-ported in the literature.Material and Methods: A chart review of the present case report was performed. After, we performed a literature search in MEDLINE, EMBASE and Cochrane databases.Results: We included 26 articles. Sixty-three patients were reviewed, 51 were female with a mean age of 45.03 years at the time of the first diagnosis. Sixty-three patients were diagnosed with limited cu-taneous SSc. Regarding organ involvement, the most frequently reported were cutaneous, vascular, pulmonary and gastrointestinal involvement. Erosions were presenting 65.08% of patients. A panoply of treatments was used.Conclusions: The authors concluded that screening for an associated disease should be encouraged since the overlap with SSc may affect prognosis and treatment.