Calcinosis in Rheumatic Disease Is Still an Unmet Need: A Retrospective Single-Center Study

Patients with immune-mediated rheumatic disease-related calcinosis comprise a subgroup at risk of encountering a more severe clinical outcome. Early assessment is pivotal for preventing overall disease progression, as calcinosis is commonly overlooked until several years into the disease and is considered as a ‘non-lethal’ manifestation. This single-center retrospective study explored the prevalence, clinical associations, and impact on survival of subcutaneous calcinosis in 86 patients with immune-mediated rheumatic diseases (IMRD). Calcinosis predominantly appeared in individuals with longstanding disease, particularly systemic sclerosis (SSc), constituting 74% of cases. Smaller calcinosis lesions (≤1 cm) were associated with interstitial lung disease, musculoskeletal involvement, and digital ulcerations, while larger lesions (≥4 cm) were associated with malignancy, severe peripheral artery disease, and systemic arterial hypertension. The SSc calcinosis subgroup exhibited a higher mean adjusted European Scleroderma Study Group Activity Index score than those without. However, survival rates did not significantly differ between the two groups. Diltiazem was the most commonly used treatment, and while bisphosphonates reduced complications related to calcinosis, complete resolution was not achieved. The findings underscore current limitations in diagnosing, monitoring, and treating calcinosis, emphasizing the need for further research and improved therapeutic strategies to improve patient care and outcomes

GENERAL CHARACTERISTICS AND FAMILIAL AGGREGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, which deposit within tissues and fix complement leading to systemic inflammation (1). Is a heterogeneous disease with a continuum of disease activity. Some patients can have predominant skin and joint involvement, whereas others can present with organ-threatening diseases such as nephritis, cardiac involvement or even neurologic manifestations. Relatives of patients with SLE appear to be at higher risk of SLE and other autoimmune diseases, but estimates of individual familial risks are largely unavailable or unreliable (2,3)

THE ROLE OF NAILFOLD CAPILLAROSCOPY IN MONITORING LUNG INVOLVEMENT IN SYSTEMIC SCLEROSIS

The usefulness of capillaroscopy in the follow-up of scleroderma patients and the possible prognostic role for the appearance of visceral involvement is suggested by many authors but still under debate.The aim of this study was to assess the role of monitoring capillaroscopic abnormalities (qualitative and semiquantitative) in relation with parameters of interstitial lung involvement and pulmonary arterial hypertension(PAH). A strong correlation was identified between initial capillaroscopy scores and FVC (r=-.47, p=0.002), DLCO (r=- .51, p< 0.001) and sPAP (r=0.34, p<0.001). Active and late capillaroscopic pattern were correlated with diagnosis of lung fibrosis (χ2=14, p=0.007) and PAH at follow-up examinations (χ2=14,2, p=0.007). Progression of capillaroscopic pattern at follow-up evaluations was not correlated with significant worsening of lung volumes, DLCO, sPAP. Instead, progression of microangiopathy evolution score (>1) was asociated with worsening of FVC (r=0.32,p<0.001), DLCO(r=0.21,p=0.02) and new diagnosis of lung fibrosis on HRCT (r=0,19,p=0.035). Semiquantitative scoring, rather then qualitative capillaroscopic assessment can have a predictive role for new involvement or worsening of previous lung involvement (especially interstitial lung disease) in scleroderma patients, confirming the putative role of capillaroscopy as biomarker in SSc

EVIDENCE FOR FAMILIAL AGGREGATION IN SIBLINGS WITH AUTOIMMUNE RHEUMATIC DISEASES

Autoimmune rheumatic disorders have a multifactorial determinism, caused by various environmental factors acting on the individual’s genetic susceptibility, destabilizing the systems which regulate the immune response. Epidemiological and genetic investigations are very important to demonstrate the contribution of genetic factors to the development of these autoimmune diseases. The contribution of genetic factors in causing autoimmune diseases has been demonstrated by familial aggregation. Moreover, it was also quantified by determining heritability, expressing the proportion of genetic factors in the etiology. It is now clear that common genes underlie multiple autoimmune disorders