Israel Medical Association Journal

Fevers recurring at a nearly predictable rate every 3–8 weeks are the signature symptom of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome, an acquired autoinflammatory disorder which recurs in association with at least one sign among aphthous stomatitis, pharyngitis, and/or cervical lymph node enlargement without clinical signs related to upper respiratory airways or other localized infections. The disease usually has a rather benign course, although it might relapse during adulthood after a spontaneous or treatment-induced resolution in childhood. The number of treatment choices currently available for PFAPA syndrome has grown in recent years, but data from clinical trials dedicated to this disorder are limited to small cohorts of patients or single case reports. The response of PFAPA patients to a single dose of corticosteroids is usually striking, while little data exist for treatment with cimetidine and colchicine. Preliminary interesting results have been published with regard to vitamin D supplementation in PFAPA syndrome, while inhibition of interleukin-1 might represent an intriguing treatment for PFAPA patients who have not responded to standard therapies. Tonsillectomy has been proven curative in many studies related to PFAPA syndrome, although the evidence of its efficacy is not widely shared by different specialists, including pediatricians, rheumatologists and otorhynolaryngologists.

Background: Bowel ultrasound has several possible uses in inflammatory bowel disease (IBD), including the initial evaluation of suspected IBD, monitoring of therapeutic response, detection of relapse, and diagnosis of complications as well as of extra-intestinal manifestations. However, its use has been limited mainly to countries where it is performed by the attending physician. 

Objectives: To investigate the feasibility and sensitivity of bedside bowel ultrasound performed by a gastroenterologist for assessing disease activity and complications in IBD.

Methods: We performed a feasibility study to compare the results of bowel ultrasound examination with those of another cross-sectional imaging modality (computed tomographic enterography or magnetic resonance enterography) in Crohn's disease, or with colonoscopy in ulcerative colitis.

Results: Between May 2015 and March 2016, 178 bowel ultrasound examinations were performed in 178 patients with suspected or established diagnosis of IBD. In 79 cases the results of another cross-sectional imaging or endoscopic examination performed within 3 months prior to the ultrasound exam were available. The sensitivity for detection of intestinal bowel thickening (a surrogate of inflammation) was 90%, and for detection of Crohn's disease complications, namely bowel stenosis and inflammatory mass, was 94% and 75%, respectively.

Conclusions: Bowel ultrasound is a useful and feasible bedside imaging tool for the detection of inflammation and complications in IBD patients. Bedside bowel ultrasound can be a valuable non-invasive tool to assess disease activity and complications in IBD patients when performed by the attending physician.

 

Sjögren’s syndrome (SS), a chronic systemic autoimmune inflammatory condition involving the exocrine glands, has been suggested to be part of the spectrum of the “Autoimmune/inflammatory Syndrome Induced by Adjuvants” (ASIA). ASIA incorporates an umbrella of clinical conditions including siliconosis, macrophage myofasciitis syndrome, and post-vaccination phenomena that occur after the exposure to a substance, namely the adjuvant. Interestingly, SS and ASIA share several common features. Firstly, a shared pathogenic mechanism involving a disruption of the immune system balance, with B cell proliferation, cytokine production and tissue infiltration, have been proposed. Patients with ASIA often present clinical features resembling those of SS; dry mouth and dry eyes have also been included in the proposed classification criteria for ASIA. Finally, several case reports have suggested that both vaccines and silicone may trigger the development of SS. Unveiling these common pathways will contribute considerably to our understanding and managing of both conditions.

Behçet’s disease (BD) is a systemic inflammatory disorder characterized by a protean clinical spectrum and an enigmatic pathogenesis. After being classified as an autoimmune disorder, spondyloarthritis and vasculitis, today BD is considered at the crossroad between autoimmune and auto-inflammatory syndromes. Many pathogenetic, clinical and therapeutic clues support this recent interpretation, enabling novel treatment choices such as interleukin (IL)-1 inhibition. Thus, in the last decade the IL-1 receptor antagonist anakinra and the anti-IL-1β monoclonal antibody canakinumab were increasingly administered in BD patients resistant to standard therapies, leading to interesting results and new intriguing pathogenetic implications. However, further studies are essential to both establish how the innate and acquired immune systems interact in BD patients and identify the best way of administering anti-IL-1 agents with regard to dosage, interval of administration and organ response.

Sarcoidosis is a chronic multisystem disease with variable course resulting from the interaction between environmental factors and the immune system of individuals genetically predisposed. The evidence linking sarcoidosis with environmental triggers such as metals is increasing. We describe the case of a 44 year old female with a history of smoking since age 30 and previous mercury dental filling who presented at physical examination with numerous subcutaneous nodules. Laboratory data showed accelerated erythrocyte sedimentation rate and high titer of anti-U1 ribonucleoprotein antibodies (U1-RNP). Skin biopsy and chest X-ray suggested the diagnosis of sarcoidosis. In this report we illustrate the different causes involved in the onset of sarcoidosis.