Clinical and biochemical landmarks in systemic autoinflammatory diseases.

Systemic autoinflammatory diseases are a group of inherited disorders of the innate immune system characterized by seemingly unprovoked inflammation recurring at variable intervals and involving skin, serosal membranes, joints, and gastrointestinal apparatus, with reactive amyloidosis as a possible severe long-term complication. Recent advances in genetics and molecular biology have improved our understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, and hereditary pyogenic and granulomatous disorders: the vast majority of these conditions are related to the activation of the interleukin-1 pathway, which results in (or from?) a common unifying pathogenetic mechanism. Their diagnostic identification derives from the combination of clinical data, evaluation of acute phase reactants, clinical efficacy in response to specific drugs, and recognition of specific mutations in the relevant genes, although genetic tests may be unconstructive in some cases. This review will discuss clinical and laboratory clues useful for a diagnostic approach to systemic autoinflammatory diseases

Role of autoimmunity and autoinflammation in the pathogenesis of idiopathic recurrent pericarditis

Idiopathic recurrent pericarditis is the most common and troublesome complication of acute pericarditis affecting about one third of such patients. The pericardium may be involved in different systemic autoimmune diseases (i.e., systemic lupus erythematosus, rheumatoid arthritis, progressive systemic sclerosis, mixed connective tissue disease, Sjogren's Syndrome, polyarteritis, giant cell arteritis, other systemic vasculitides) either in a symptomatic form (usually during the active phase of the disease) or as asymptomatic pericardial effusion. Moreover, idiopathic recurrent pericarditis mimicks hereditary periodic fever syndromes (HPFSs). HPFSs are a group of disorders characterized by primary dysfunction of the innate immune system mostly caused by mutations of genes involved in the regulation or activation of the inflammatory response, without any apparent involvement of antigen-specific T cells or significant production of autoantibodies. These disorders usually manifest in the pediatric population, with onset ranging from the first hours to the first decade of life, however a limited number of patients experience disease onset during adulthood

Clues to detect tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among patients with idiopathic recurrent acute pericarditis: results of a multicentre study

BACKGROUND: The potential clinical expression of tumor necrosis factor receptor-associated periodic syndrome (TRAPS), in the form of idiopathic recurrent acute pericarditis (IRAP) has not been explored in the medical literature. The aim of this study was to evaluate the incidence of TRAPS mutations in patients with recurrent pericarditis and identify possible clues to TRAPS diagnosis. METHODS: Therefore, 131 consecutive Caucasian IRAP patients were investigated for mutations of the TRAPS gene and prospectively evaluated. RESULTS: Out of 131 patients, 8 (6.1%) carried a mutation in the TNFRSF1A gene. Compared with those without genetic mutations, patients with TRAPS mutations had more frequently a positive family history for pericarditis and periodic fever syndromes (p < 0.001), a higher mean number of recurrences after the first year (p < 0.001), on colchicine treatment (p < 0.001), and a higher need of immunosuppressive therapies (p < 0.001). CONCLUSION: TRAPS is a cause of recurrent pericarditis in 6% of unselected cases with recurrent pericarditis. A positive family history for pericarditis or periodic fever syndromes, a poor response to colchicine, recurrences after the first year from the index attack or on colchicine treatment, as well as the need of immunosuppressive agents are clues of the possible presence of TNFRSF1A gene mutations in patients with recurrent pericarditis

SIUMB recommendations for focal pancreatic lesions

Contrast-enhanced ultrasonography (CEUS) is increasingly being performed in Italy and Europe, particularly in the field of hepato-gastroenterology. Initially, it was mainly carried out to characterize focal hepatic lesions, but, since then, numerous studies have demonstrated its efficacy in the differential diagnosis of focal pancreatic pathologies (D\u2019Onofrio et al. in Expert Rev Med Devices 7(2):257\u2013273, 2010; Vidili et al. in J Ultrasound 22(1):41\u201351, 2019). The purpose of this paper is to provide Italian Medical Doctors with recommendations and thereby practical guidelines on the management of these patients. The present paper reports the final conclusions reached by the SIUMB guideline commission. This paper addresses particularly percutaneous ultrasound (US) examination (transabdominal US) and is drawn up specifically for publication

SIUMB recommendations for focal pancreatic lesions

Contrast-enhanced ultrasonography (CEUS) is increasingly being performed in Italy and Europe, particularly in the field of hepato-gastroenterology. Initially, it was mainly carried out to characterize focal hepatic lesions, but, since then, numerous studies have demonstrated its efficacy in the differential diagnosis of focal pancreatic pathologies (D’Onofrio et al. in Expert Rev Med Devices 7(2):257–273, 2010; Vidili et al. in J Ultrasound 22(1):41–51, 2019). The purpose of this paper is to provide Italian Medical Doctors with recommendations and thereby practical guidelines on the management of these patients. The present paper reports the final conclusions reached by the SIUMB guideline commission. This paper addresses particularly percutaneous ultrasound (US) examination (transabdominal US) and is drawn up specifically for publication