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Coatomer subunit α (COPA) syndrome is a mendelian autosomal dominant immune dysregulation disease characterized by early onset lung disease in the form of diffuse alveolar hemorrhaging or interstitial lung disease, frequently associated with arthritis, glomerulonephritis, and high titer autoantibodies usually mimicking other autoimmune diseases. While immunosuppressive medication has been effective in controlling arthritis, data on long-term lung disease control remains scarce, which poses a real challenge as the progression of lung disease is the main cause of poor life expectancy in COPA patients. Nevertheless, JAK inhibitor therapy seems to be the most promising therapeutic choice now. [ABSTRACT FROM AUTHOR]

Overlap syndrome of systemic sclerosis and idiopathic inflammatory myopathies is an increasingly frequent entity, but the association with immune-mediated necrotizing myositis has rarely been described. While myositis or myopathy may be features of scleroderma, it is imperative to correctly diagnose an overlap syndrome of these two, since it can be considered a different entity with specific management and a worse prognosis. Anti-signal recognition particle (anti-SRP) antibodies target the striated muscle fiber and inhibit myoblast regeneration, resulting in myofiber atrophy and necrosis. Anti-SRP antibodies are specific in immune-mediated necrotizing myopathy characterized by myonecrosis and minimal inflammatory reaction, with proximal muscle weakness and typical extra-muscular manifestation. There are controversial data on the association of cardiac manifestations and the presence of these antibodies, and recent studies cannot prove a significant correlation between the two. Myocarditis is a complication with an unpredictable, potentially severe outcome from heart failure and dilated cardiomyopathy to fatality. It can be difficult to diagnose, and a myocardial biopsy can be problematic in daily practice; thus, most practitioners rely on cardiac magnetic resonance with suggestive images for the correct diagnosis. This paper seeks to address the challenges associated with the diagnosis and treatment of collagen diseases by evaluating the role of anti-SRP antibodies in the pathogenesis of cardiac involvement. [ABSTRACT FROM AUTHOR]

Gout is a chronic metabolic disease, characterized by joint inflammation caused by monosodium urate monohydrate crystals. The main objective of this study was to identify the prevalence of gout in a rheumatology department in Romania and secondary to describe the characteristics of patients diagnosed with this condition, with emphasis on the comorbidities. This is a longitudinal, retrospective study on 280 patients from the Department of Internal Medicine and Rheumatology, Dr I Cantacuzino Hospital, from January 2017 to May 2019, diagnosed with chronic or acute gout. The prevalence of gout in our hospital in 2 years period was 0.97%. Gouty attack was diagnosed in 38.2% of cases, while 61.8% were evaluated for chronic gout. Male frequency was 69.6%, alcohol consummation was observed in more than half of the cohort (53.2%) and 72.1% were retired persons. The most frequent comorbidity was hypertension (HBP) (82.1%) followed by dyslipidemia (65.3%), atherosclerotic disease(ATS) (55.0%) and chronic kidney disease (53.9%). There was a significant association between HBP, ATS and dyslipidemia with chronic gout (p=0.038, p=0.022 and p=0.009, respectively). The rate of gouty attack significantly increased with the serum level of uric acid (p<0.001). The therapeutic approach complies with international recommendations. [ABSTRACT FROM AUTHOR]

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