Recurrent Inflammatory Attacks Research Articles

Clinical Features of Behçet’s Disease Uveitis

Abstract: Behçet’s disease (BD) is a chronic, multisystemic vasculitis first described by Professor Hulusi Behçet in 1937. It is characterized by recurrent inflammatory attacks affecting multiple organs, with uveitis being a significant and severe complication that can lead to blindness. BD typically emerges between the ages of 20 and 30 years, with a higher prevalence in males and rare occurrences in children. The prevalence and severity of BD and its ocular symptoms tend to diminish with age. In Turkey, BD is a leading cause of noninfectious uveitis, and its prevalence varies across different regions. Ocular involvement, seen in up to 90% of BD patients, often appears 2–4 years after disease onset and may be the initial sign in 10%–20% of cases. BD uveitis is characterized by recurrent nongranulomatous panuveitis and retinal vasculitis, typically affecting both eyes. Diagnostic tools such as fluorescein angiography (FA), optical coherence tomography (OCT), and laser flare photometry (LFP) are essential for monitoring disease activity and guiding treatment. FA is crucial for identifying occlusive and leaky vasculitis, while OCT helps in detecting macular complications and visualizing retinal infiltrates and their sequelae. LFP quantitatively evaluates intraocular inflammation. Recognizing the ocular manifestations of BD early is vital for accurate diagnosis and effective management. This review highlights the clinical features, diagnostic tools, and importance of early diagnosis in managing BD uveitis.

Canthin-6-Ones: Potential Drugs for Chronic Inflammatory Diseases by Targeting Multiple Inflammatory Mediators.

Chronic inflammatory disease (CID) is a category of medical conditions that causes recurrent inflammatory attacks in multiple tissues. The occurrence of CID is related to inappropriate immune responses to normal tissue substances and invading microbes due to many factors, such as defects in the immune system and imbalanced regulation of commensal microbes. Thus, effectively keeping the immune-associated cells and their products in check and inhibiting aberrant activation of the immune system is a key strategy for the management of CID. Canthin-6-ones are a subclass of β-carboline alkaloids isolated from a wide range of species. Several emerging studies based on in vitro and in vivo experiments reveal that canthin-6-ones may have potential therapeutic effects on many inflammatory diseases. However, no study has yet summarized the anti-inflammatory functions and the underlying mechanisms of this class of compounds. This review provides an overview of these studies, focusing on the disease entities and the inflammatory mediators that have been shown to be affected by canthin-6-ones. In particular, the major signaling pathways affected by canthin-6-ones, such as the NLR family pyrin domain containing 3 (NLRP3) inflammasome and the NF-κB signaling pathway, and their roles in several CIDs are discussed. Moreover, we discuss the limitations in studies of canthin-6-ones and provide possible solutions. In addition, a perspective that may suggest possible future research directions is provided. This work may be helpful for further mechanistic studies and possible therapeutic applications of canthin-6-ones in the treatment of CID.

Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.

Hyperimmunoglobulin D syndrome (HIDS) is a hereditary autoinflammatory disease characterized by recurrent inflammatory attacks with fever, abdominal pain, lymphadenopathy, aphthous stomatitis, and skin lesions. There are few reports on HIDS patients complicated with macrophage activation syndrome (MAS); however, to our knowledge, there is no case of HIDS with recurrent MAS attacks. We report two pediatric patients initially diagnosed as Kawasaki disease and systemic juvenile idiopathic arthritis presented with recurrent MAS episodes with prolonged fever, skin rash, hepatosplenomegaly, cervical lymphadenopathy, aphthous stomatitis, headache, pancytopenia, hyperferritinemia, and hypofibrinogenemia, finally diagnosed as HIDS with a documented homozygous MVK gene mutation. This is the first report on recurrent MAS attacks due to HIDS in pediatric patients who were successful treated with corticosteroids and anti-IL-1 therapies. Thus, clinicians should be vigilantly investigated signs of autoinflammatory diseases in patients with recurrent MAS attacks during their disease course, and HIDS should be considered an underlying disease for triggering recurrent MAS attacks. We have also reviewed the current literature regarding HIDS cases complicated with a MAS attack and summarized their demographic, treatment, and outcome characteristics. Key points • Hyperimmunoglobulin D syndrome should be considered in differential diagnosis in patients who experienced recurrent macrophage activation syndrome attacks.

The patient journey with NMOSD: From initial diagnosis to chronic condition.

ObjectiveTo better understand the patient experience with neuromyelitis optica spectrum disorder (NMOSD) through the course of the illness.BackgroundNMOSD is a rare autoimmune disorder that causes recurrent inflammatory attacks of the optic nerve, spinal cord, and brain. Knowledge and awareness of NMOSD in the general medical community are often limited, resulting in potential delays in diagnosis and treatment.Design/methodsWe developed a comprehensive 101-question survey to understand the patient's perspective on their journey from initial presentation to present condition. The survey covered basic demographics, symptoms, medical tests used to reach a diagnosis, and the patient's psychosocial responses to their diagnosis. The survey included questions to determine internal consistency in responses. We shared the survey with members of the Neuromyelitis Optica (NMO) Clinic Facebook group and received responses from 151 patients. All data collected were self-reported and presented as summary statistics.ResultsThe majority of survey responses were from patients who were female (83%) and White (76%), Asian (7%), or African American (7%). Initial symptoms of disease included fatigue, pain, stiffness/spasticity, bladder and bowel dysfunction, cognitive/emotional symptoms, and visual disturbances. Initial reactions to NMOSD diagnosis were frequently fear, anxiety, and/or depression. Mean (SD) time to diagnosis was 2.2 (3.2) years. First contact with a medical professional was felt to be not helpful or somewhat helpful for many patients (71%), in part due to uncertain diagnosis and/or treatment. However, once referred to specialists (primarily neurologists), the majority of patients (87%) reported finding a professional who could help. Tests leading to diagnosis included magnetic resonance imaging, lumbar puncture, and blood tests for autoantibodies including aquaporin-4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG). While approximately 30% of patients still felt challenged for a variety of reasons, most patients reported that having a diagnosis and being under the care of a specialist contributed to a comprehensive plan with hope for their future.ConclusionsThe NMOSD patient journey frequently begins with anxiety, fear, and frustration. Finding the right specialist and identifying appropriate screening tests can lead to earlier diagnosis and progression toward better patient outcomes.

Clinical impact and disease evolution of SARS-CoV-2 infection in familial Mediterranean fever

The innate immune system is critically involved in the pathogenesis of familial Mediterranean fever (FMF), characterized by dysregulated inflammasome activity and recurrent inflammatory attacks: this is the most common among monogenic autoinflammatory diseases, which shares some biochemical pathways with the severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection. In this short review we explore the overlap in the pathophysiology of FMF and SARS-CoV-2 infection, discussing how to understand better the interaction between the two diseases and optimize management. A poorer outcome of SARS-CoV-2 infection seems not to be present in infected FMF patients in terms of hospitalization time, need for oxygen support, need for intensive care, rate of complications and exitus. Long-term surveillance will confirm the relatively low risk of a worse prognosis observed so far in SARS-CoV-2-infected people with FMF. In these patients COVID-19 vaccines are recommended and their safety profile is expected to be similar to the general population.

Association between intervertebral disc degeneration and Behçet's disease.

Behçet's disease (BD) is a chronic systemic vasculitis with a wide range of clinical findings. It has both autoinflammatory and autoimmune features and manifests with recurrent inflammatory attacks involving the innate immune system. Recently, autoinflammation has started to take place in the pathogenesis of intervertebral disc degeneration. The aim of this study is to evaluate the relationship between intervertebral disc degeneration and BD. We evaluated patients with BD who suffered neck or low back pain in the last 1 year. Eighty four patients underwent musculoskeletal system examination with MRI imaging of the cervical and lumbar vertebrae, and serum levels of IL6, IL8, and TNF-α were determined. The mean age was 47.7± 11.5 (range 20-68)years. Cervical and/or lumbar herniation was detected in the MRI imaging of 65 (77.3%) out of 84 patients. The mean IL8 levels of the group with pain and disc herniation and the group with pain and bulging were statistically significantly higher than the other groups (p= 0.007; p= 0.045, respectively). Chronic inflammation in BD may cause disc degeneration and radicular pain to begin and progress earlier in patients.

Rare Autoinflammatory Diseases: A Single Center Experience of 47 Patients

Autoinflammatory diseases include a group disease characterized by recurrent systemic inflammatory attacks due to failure in the regulation of the innate immune system. The beginning time of autoinflammatory disease are the most commonly in childhood. Autoinflammatory disease which having different clinical forms are rare, therefore diagnosis is often delayed. To determine the clinical, laboratory and radiological characteristics of children with rare autoinflammatory diseases and in which patients to consider autoinflammatory disease. Forty seven patients diagnosed with rare autoinflammatory diseases between 2010 and 2020 were analyzed retrospectively. Demographic characteristics, clinical courses, laboratory and imaging findings of the patients were recorded. Forty-seven with rare autoinflammatory patients evaluated. Twenty-three patients had Chronic Nonbacterial Osteomyelitis (CNO), seven patients had Mevalonate Kinase Deficiency (MKD), six patients had Blau Syndrome / Early-Onset Sarcoidosis (BS/EOS) Syndrome, three patients had Cryopyrin-associated periodic fever syndrome (CAPS), three patients had Autoinflammatory Vasculitis, one patient had Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome, one patient had Neonatal Onset Pancytopenia, Autoinflammation, Rash and Episodic HLH (NOARCH) syndrome. Three of our patients were being followed up with a diagnosis of undiferantiated systemic autoinflammatory disease (uSAID).Autoinflammatory diseases may have different presentations. Steril and recurrent inflammation should be warning clinicians.

Immunopathogenesis and treatment of ulcerative colitis: from modern medicine to herbal medicines

Ulcerative colitis is one of the idiopathic inflammatory diseases of the large intestine with an unknown cause, which occurs in recurrent attacks of inflammation in the lining of the mucosa and below the intestinal mucosa. Impaired mucosal immune responses, the involvement of inflammatory cytokines such as IL-1, TNF-α, and IL-6, and other inflammatory mediators such as arachidonic acid metabolites play an important role in the immunopathogenesis of ulcerative colitis. Based on medical findings on the pathogenesis of the disease, new therapies have focused on the responses of the intestinal immune system and the inflammatory process. However, the widespread use of treatments such as aminosalicylates and corticosteroids continues. Most of these drugs have severe side effects. Some patients do not respond well to these treatments and sometimes have to undergo surgery and colectomy. Therefore, extensive studies are being conducted to control and prevent disease to use natural treatment methods such as the use of antioxidants with the approach of removing free radicals that prevent the destruction of cells and tissues in the body. Today, various studies have pointed to the effects of herbal medicines as a complementary treatment in inflammatory diseases. Their low cost and high effectiveness have attracted the attention of researchers in this field. The aim of the present study is a comprehensive review of modern and traditional treatments based on herbal medicines in the field of ulcerative colitis.

Behçet’s disease: A Narrative Review of Clinical Diagnosis and Treatment

Behçet’s disease is characterized with recurrent attacks of inflammation that are driven by systemic vasculitis without obscure trigger. It is more prevalent in the World region so-called “silk road”, including Turkey, Iran, Korea, China, Saudi Arabia, and Japan. Involvement of any kind of vessels is possible during the course of the Behçet’s disease. Common symptoms of the disease include aphthous oral ulcers, genital ulcers, arthritis, cutaneous lesions, gastrointestinal involvement, and neurologic lesions. In this article, we aimed to present the clinical findings, diagnosis, and treatment options of Behçet’s disease and review of the current literature data.

Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.

Background:This study aims at describing the therapeutic outcome of patients carrying the R92Q variant in the TNFRSF1A gene treated with anakinra (ANA) or canakinumab (CAN) and identifying any factors predictive of complete response to IL-1 inhibition.Methods:Clinical data of patients treated with ANA or CAN for recurrent inflammatory attacks due to the presence of the R92Q variant were retrospectively collected and analysed.Results:Data about 20 treatment courses with IL-1 inhibitors (16 with ANA and 4 with CAN) from 19 patients were collected. Mean age at disease onset was 20.2 ± 14.8 years. In 5 cases (26%) the R92Q variant was found in a family member affected by recurrent fever. The therapeutic response was complete in 13(68%) and partial in 2 patients (11%); treatment failure was observed in 4 cases (21%). Median AIDAI decreased from 10 (interquartile range [IQR] = 28) to 0 (IQR = 1) at the 12-month follow-up visit (p < 0.001). Mean ESR and median CRP dropped respectively from 40.8 ± 24.8 to 9.1 ± 4.5 mm/h (p < 0.001) and from 3.0 (IQR = 1.9) to 0.3 (IQR = 0.3) mg/dl (p < 0.001) after 12 months of treatment. A steroid-sparing effect was observed from the third month of treatment (p < 0.01). Thirteen patients (65%) were still on treatment at the last follow-up visit (median duration of treatment 17 (IQR = 38) months). The presence of R92Q mutation in a symptomatic relative (p = 0.022), the relapsing remitting disease course (p < 0.001) and the presence of migratory erythematous skin rashes during fever attacks (p = 0.005) were associated with complete efficacy of IL-1 inhibitors.Conclusions:R92Q patients showed a favourable response to ANA and CAN, particularly when the mutation segregated in a family member and when a relapsing-remitting disease course or TNF-α receptor-associated periodic syndrome (TRAPS) typical skin rash were observed. In the subgroup of patients not taking advantage of IL-1 blockage different molecular mechanisms underlying the autoinflammatory picture are likely to exist.

The Frequency of Familial Mediterranean Fever Gene Mutations and the Correlations between Phenotype and Genotype in Turkish Children

Aim: Familial Mediterranian Fever is an autosomal recessive disease characterized by recurrent inflammatory attacks of serosal membranes. The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 158 children (78 male, 80 female) diagnosed with Familial Mediterranean Fever (FMF) and to compare the phenotype-genotype correlation.&#x0D; Methods: In our retrospective case-control study, 158 FMF patients (78 males, 80 females) who were diagnosed with MEFV gene mutation in Bursa Yuksek Ihtisas Training and Research Hospital, Department of Pediatrics between January 2018 and June 2019 were included in the study. Mutation screening of the MEFV gene was performed for 12 mutations and the 8 most common mutations were taken into the study.&#x0D; Results: Abdominal pain (77.8%), fever (74%) and arthralgia (46.2%) were the most prevalent clinical features in our patients. The most frequent mutations were M694V, E148Q, V726A, M680I and P369S. In cases with M694 mutation, it was noted that the incidence of arthritis was 2.5 times, appendectomy frequency 3.1 times higher, and early diagnosis probability 3.2 times higher. The frequency of chest pain was 2.9 times higher in the M680I mutation, and the frequency of arthralgia was 2.2 times higher in the P369S mutation.&#x0D; Conclusion: Patient’s mutations in FMF patients are important for clinical expectations, and some mutations such as P369S are not as innocent as expected. However, reevaluation of phenotypes of mutations that are rare with more patients will be significant.

Canakinumab for the treatment of hyperimmunoglobulin D syndrome

ABSTRACTIntroduction: Mevalonate Kinase Deficiency (MKD) is a rare monogenic autoinflammatory disorder (AID) with autosomal recessive inheritance caused by mutations in the MVK gene. It includes hyperimmunoglobulinemia D syndrome (HIDS) and mevalonic aciduria (a severe form). Patients have recurrent inflammatory attacks with high fever, gastrointestinal symptoms, lymphadenopathy, splenomegaly, arthralgia, rash, pharyngitis, aphtosis and constitutional complaints. Heightened understanding of molecular mechanisms in monogenic autoinflammatory disorders has provided tools for targeted treatment. HIDS is an extrinsic inflammasomopathy and is responsive to anti-IL-1 therapies, such as the recombinant IL-1-receptor antagonist anakinra, the monoclonal antibody against IL-1b canakinumab (CAN), and the recombinant IL-1R fusion protein rilonacept.Areas covered: CAN is a human monoclonal anti-IL-1β antibody that binds with high affinity and neutralizes the activity of IL-1 β. Both observational registries and some case reports have seemed promising in the efficacy of CAN in the HIDS treatment. Two clinical trials have corroborated CAN as an effective and safe drug.Expert commentary: CAN is effective and safe for the treatment of HIDS patients. Some data suggest these patients may need higher dosage or shorter dosing interval than other AIDs, to achieve and maintain complete clinical and laboratory response. Reported adverse events were mild, most often non-complicated infections.

The Broad-Ranging Panorama of Systemic Autoinflammatory Disorders with Specific Focus on Acute Painful Symptoms and Hematologic Manifestations in Children.

Systemic autoinflammatory disorders (SAIDs) are inherited defects of innate immunity characterized by recurrent sterile inflammatory attacks involving skin, joints, serosal membranes, gastrointestinal tube, and other tissues, which recur with variable rhythmicity and display reactive amyloidosis as a potential long-term complication. Dysregulated inflammasome activity leading to overproduction of many proinflammatory cytokines, such as interleukin-1 (IL-1), and delayed shutdown of inflammation are considered crucial pathogenic keys in the vast majority of SAIDs. Progress of cellular biology has partially clarified the mechanisms behind monogenic SAIDs, such as familial Mediterranean fever, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome, mevalonate kinase deficiency, hereditary pyogenic diseases, idiopathic granulomatous diseases and defects of the ubiquitin-proteasome pathway. Whereas, little is clarified for the polygenic SAIDs, such as periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome. The puzzle of symptomatic febrile attacks recurring over time in children requires evaluating the mixture of clinical data, inflammatory parameters in different disease phases, the therapeutic efficacy of specific drugs such as colchicine, corticosteroids or IL-1 antagonists, and genotype analysis in selected cases. The long-term history of periodic fevers should also need to rule out chronic infections and malignancies. This review is conceived as a practical template for proper classification of children with recurring fevers and includes tips useful for the diagnostic approach to SAIDs, focusing on the specific acute painful symptoms and hematologic manifestations encountered in childhood.

Assessment of physical growth, some oxidative stress biomarkers and vitamin D status in children with Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) is an autosomal recessive disease characterized by recurrent fever and inflammatory attacks. The aim of our study is to evaluate the growth parameters in Egyptian children with FMF and to investigate vitamin D status (serum 25-(OH) D) and some oxidative stress biomarkers during the attack free period in relation to the disease severity. Cases were classified into mild and moderate according to disease severity. Fifty Egyptian children with FMF (25 males and 25 females) and 35 age and sex-matched healthy controls were enrolled in this study. Serum paraoxonase1, malondialdehyde and Serum 25-(OH) D were estimated. Z-scores of weight, height and body mass index were calculated. Of the 50 patients with FMF, 20 (40%) had mild degree of severity and 30 (60%) with moderate degree of severity. The homozygous genotypes mutations of M694I and M694I + M680I were the most frequent (52% and 26%, respectively). Normal growth pattern was detected in both sexes. SerumPON1 and 25-(OH) D were significantly lower in FMF patients than the control group. On the other hand, during the attack free periods serum level of MDA was significantly higher in the moderate group compared to the mild group while PON1 was significantly lower in moderate group. The study suggests persistence of oxidative stress in FMF children during the attack free period. Vitamin D was significantly low in FMF patients. The study recommends the fortification with vitamin D and antioxidant parameters in the FMF patients.

Predictors of Recurrence in Vogt-Koyanagi-Harada Disease

Normally, Vogt-Koyanagi-Harada (VKH) disease has a good prognosis with adequate treatment. However, VKH disease recurs more frequently if diagnosis is delayed or treatment is inadequate. As soon as VKH disease recurs, inflammation is harder to control and the prognosis worsens. Our objective was to study predictors of recurrence in patients with VKH disease. Retrospective case series. Forty-one eyes of 41 patients (25 women, 16 men) were included in this study. Patients with recurrent attacks of inflammation were classified as recurrent, whereas patients needing only steroid treatment, without any recurrent attacks, were classified as nonrecurrent. Descriptive and bivariate analyses were used to characterize disease and outcomes. A blood-flow analysis was performed with laser speckle flowgraphy on days 0, 14, 30, and 60. Choroidal thickness was measured with swept-source OCT, using a 12-radial scan protocol, on the same day as mean blur rate (MBR) measurement. Flare in the anterior chamber also was measured on the same day, using a flare cell meter. Prevalence of each type of disease pattern and flare, MBR, and thickness of the choroidal layers. The recurrent group initially had lower visual acuity (VA) and higher flare than the nonrecurrent group, but these parameters improved over time and were similar in the groups on days 14, 30, and 60. However, on these days, MBR was significantly lower in the recurrent group than in the nonrecurrent group. Choroidal thickness was not significantly different in the 2 groups at any time point. We found that patients with recurrent VKH disease had lower VA, higher initial flare number, and a lower response of MBR to treatment than patients with nonrecurrent VKH disease. Thus, VA and flare number during the initial phase, as well as the MBR response to treatment, may be useful in determining the prognosis for VKH disease and choosing therapeutic options.

Anatomical Study of Sigmoid Colon

In this era there is increased incidence of carcinoma of the large bowel, sigmoid colon is one of the commonest sites affected. The knowledge of this study is of immense value in which surgery should be planned in resection of this region & need to be investigated. The knowledge of the anatomical study of sigmoid colon is having great importance in patients with carcinoma of Rectum the sigmoid colon is often selected as site for performing a colostomy. The mobility of sigmoid colon makes it suitable for implantation of the ureters after surgical removal of bladder. Sigmoid colon shows great variation in its length as the length is more it can cause pathological condition like volvulus. Laparoscopic colorectal interventions in sigmoid diverticulitis are, for the most part, carried out as elective procedures for peridiverticulitis, stenosis, or recurrent attacks of inflammation. The conversion, complication, and mortality rates associated with these interventions are acceptable. Laparoscopic procedures in Hinchey stages I to IV sigmoid diverticulitis and in the presence of fistula and bleeding are more likely to be associated with complications, and should be carried out only by highly experienced laparoscopic surgeons. For that importance to conduct the sigmoid colon surgeries and procedures here we are studying about sigmoid colon shape, location and length.

Relapsing polychondritis : A rare differential diagnosis in clinical practice

Relapsing polychondritis (RPC) is a chronic immune-mediated inflammatory, systemic disease primarily leading to structural damage and impaired function of cartilage tissue. However, the systemic inflammatory process in RPC can also affect sensory organ structures, the respiratory tract, the nervous and cardiovascular systems as well as the kidneys. The immune-mediated disease leads to recurrent inflammatory attacks causing a progressive degradation of elastic and hyaline cartilage structures, especially in the ears, nose, larynx, trachea and diarthrodial joints. However, other connective tissue structures in the eye and the heart valves may also be involved. The RPC is regarded as an orphan disease as the number of reported cases has so far remained confined to approximately 600 worldwide. The rarity of the disease has limited systematic clinical studies and the available empirical data are exclusively derived from casuistic studies or evaluation of small case series. The therapeutic interventions depend on the extent and localization of the disease manifestation. Thus, nonsteroidal anti-inflammatory drugs (NSAID), glucocorticoids and immunosuppressive agents with conventional synthetic disease-modifying antirheumatic drugs (DMARD) have been demonstrated to be beneficial. More severe and refractory diseases may require a targeted pharmacological intervention with biologic DMARDs.

The myths we believed in familial Mediterranean fever: what have we learned in the past years?

Familial Mediterranean fever is the most common monogenic periodic fever syndrome over the world especially in the eastern Mediterranean. It presents with recurrent and self-limited inflammatory attacks of fever and polyserositis along with high acute-phase reactants. The disease is associated with mutations in the MEFV gene that encodes pyrin, a component of inflammasome, which leads to exaggerated inflammatory response through uncontrolled production of interleukin 1. With the identification of the gene associated with the disease, we believed that everything was solved and that this was an ordinary monogenic disease with autosomal recessive inheritance. However, through the breathtaking progress in the basic research field as well as the clinical care of these patients, we have understood that the picture for this monogenic disorder was more complicated than we had anticipated. In this review, we have discussed the myths we believed in familial Mediterranean fever and how they have evolved during the past years.

When the clinician has to rely on disease phenotype alone for diagnosis: the example of Behçet’s uveitis

AbstractBehçet’s disease (BD) is a complex inflammatory disorder characterized by recurrent inflammatory attacks in multiple organ systems There is no specific diagnostic test. Clinical diagnostic criteria have been developed based on the presence of characteristic ocular and systemic inflammatory manifestations. However, ocular lesions defined in the current sets of diagnostic or classification criteria are nonspecific. It is important to recognize characteristic features of BD uveitis because there are BD patients with other forms of uveitis by coincidence, and patients with typical ocular involvement but without systemic manifestations of the disease. The course of the disease is characterized by recurrent nongranulomatous uveitis attacks of variable severity. Transient nature of the acute inflammatory signs is the most important diagnostic clue. Transient retinal infiltrates and inferior peripheral pearl‐like precipitates are the pathognomonic findings that help differentiating BD uveitis from other causes of panuveitis and retinal vasculitis.

AB0888 Mutations in TNFRSF1A and NLRP3 Genes in Patients with Recurrent Inflammatory Attacks in Russian Population

BackgroundPathogenic variants in two regulating genes, NLRP3 and TNFRSF1A, cause two severe and early-onset autoinflammatory syndromes, CAPS and TRAPS. The spectrum of autoinflammatory syndrome, NLRP3 and TNFRSF1A mutations, clinical manifestations...