Laura Damian

EULAR recommendations for neuropsychiatric systemic lupus erythematosus vs usual care: results from two European centres

OBJECTIVE To compare the European League Against Rheumatism (EULAR) recommendations for the management of NPSLE with usual care in two tertiary centres and to detect potential pitfalls in their use for diagnosis and treatment. METHODS A chart-based review of NPSLE manifestations was conducted in two European centres. Diagnostic and treatment decisions were compared against the EULAR recommendations for general NPSLE and specific manifestations. RESULTS We studied a total of 94 patients who experienced 123 lupus-related neuropsychiatric events over 10 years. In 80% of the events, at least one EULAR-defined risk factor (previous NPSLE, generalized disease activity or aPL positivity) was present. Overall, there was good concordance between clinical care and recommendations for diagnosis and treatment (68.7% and 62.7% of events, respectively). Brain MRI was performed in the absence of a clear EULAR recommendation in 42.9% of events; therein, it was more frequently normal compared with imaging performed according to the recommendations (52.4% vs 18.5%, P = 0.008), and it did not influence management. Among patients reporting cognitive dysfunction, only 27.8% underwent the recommended neuropsychological assessment. In line with the recommendations, immunosuppressants were more frequently given in events suggestive of an inflammatory process (80.5% vs 47.6% in non-inflammatory events, P < 0.001). Notably, 52% of cerebrovascular events were managed with combined immunosuppressive/antithrombotic therapy due to either coexisting generalized lupus activity or recurrence despite prior antithrombotic treatment. CONCLUSION Despite good concordance between EULAR recommendations for NPSLE and usual clinical practice, we identified a number of issues (such as overutilization of brain MRI, suboptimal evaluation of cognitive dysfunction, and frequent use of immunosuppressives in cerebrovascular disease) that need to be investigated further.

The role of ultrasonography in assessing disease activity in patients with rheumatoid arthritis and associated fibromyalgia.

AIM The purpose of this study is to compare and correlate US evaluation with clinical scores of the disease activity in patients with rheumatoid arthritis (RA) and concomitant fibromyalgia (FM). MATERIAL AND METHODS Ten patients diagnosed with RA according to the 2010 ACR/EULAR classification criteria and associated FM based on the ACR 1990 classification criteria and two control groups, one with RA (10 patients) and one with FM (10 patients), were included. Clinical assessment was performed and the disease activity scores were calculated. Synovial/tenosynovial hypertrophy, fluid collections in grey scale (GS), and Power Doppler (PD) US assessed by US in the 28 joints included in the disease activity score 28 (DAS28). RESULTS GS US score and PD US scores were correlated with DAS28 only in patients with RA (Pearson r coefficients 0.3 and 0.5). Mean DAS28 score was significantly higher in the RA/FM group, compared to RA and FM (5.6 versus 4.6 versus 4.5, respectively). Patients with RA/FM had similar median US scores to RA patients, while in FM group significantly lower median US scores were detected (16 versus 9.5 versus 0 for GS US and 3.5 versus 1.5 versus 0 for PD US, respectively). CONCLUSIONS Disease activity scores should be interpreted with caution in patients with RA and FM. When available, US should be used to guide treatment decisions in patients with RA and FM.

Unilateral temporal myositis heralding polymyositis: ultrasonographic and elastographic findings. Case report.

Temporal myositis is a rare inflammatory disease of the temporal muscle. We report a case of unilateral temporal myositis, in which a polymyositis was diagnosed two years thereafter. Although focal myositis may rarely herald polymyositis, isolated temporal myositis preceding inflammatory myopathies has not been described, to our knowledge. In the setting of a temporal pain and swelling, ultrasonography may help in diagnosis, biopsy guidance, disease extension, and progression assessment. Further studies are necessary to establish the role of elastography in differentiating between muscle inflammation and hypertrophy.

Relapsing polychondritis: state of the art on clinical practice guidelines

Due to the rarity of relapsing polychondritis (RP), many unmet needs remain in the management of RP. Here, we present a systematic review of clinical practice guidelines (CPGs) published for RP, as well as a list of the most striking unmet needs for this rare disease. We carried out a systematic search in PubMed and Embase based on controlled terms (medical subject headings and Emtree) and keywords of the disease and publication type (CPGs). The systematic literature review identified 20 citations, among which no CPGs could be identified. We identified 11 main areas with unmet needs in the field of RP: the diagnosis strategy for RP; the therapeutic management of RP; the management of pregnancy in RP; the management of the disease in specific age groups (for instance in paediatric-onset RP); the evaluation of adherence to treatment; the follow-up of patients with RP, including the frequency of screening for the potential complications and the optimal imaging tools for each involved region; perioperative and anaesthetic management (due to tracheal involvement); risk of neoplasms in RP, including haematological malignancies; the prevention and management of infections; tools for assessment of disease activity and damage; and patient-reported outcomes and quality of life indicators. Patients and physicians should work together within the frame of the ReCONNET network to derive valuable evidence for obtaining literature-informed CPGs.

Clinical and ultrasound findings in patients with calcium pyrophosphate dihydrate deposition disease

AIM To evaluate the presence and distribution of calcium pyrophosphate (CPP) deposits in joints commonly affected by CPP deposition (CPPD) disease (acromio-clavicular, gleno-humeral, wrists, hips, knees, ankles, and symphysis pubis joints) using ultrasound (US). MATERIAL AND METHODS Thirty consecutive patients fulfilling McCarty diagnostic criteria for CPPD were consecutively enrolled in the study. The data registered using the US included the affected joints, the calcification site, and the pattern of calcification (thin hyperechoic bands, parallel to the surface of the hyaline cartilage, hyperechoic spots, and hyperechoic nodular or oval deposits). The presence of CPP crystals in knees was confirmed by polarized light microscopy examination of the synovial fluid and radiographs of the knees were performed in all patients. RESULTS In 30 patients, 390 joints were scanned, (13 joints in every patient). The mean±standard deviation number of joints with US CPPD evidence per patient was 2.93±1.8 (range 1-9). The knee was the most common joint involved both clinically and using US examination. The second US pattern (with hyperechoic spots) was the most frequent. Fibrocartilage calcifications were more common than hyaline calcification. Using radiography as reference method, the sensitivity and specificity of US for diagnosis CPPD in knees was 79.31%, 95CI(66.65%-88.83%), and 14.29%, 95CI(1.78%-42.81%), respectively. CONCLUSIONS The knee is the most frequent joint affected by CPPD. The second ultrasound pattern is the most common. CPPD affects the fibrocartilage to a greater extent than the hyaline cartilage.

AB0918 Prevalence of Previous Pfapa Syndrome in Behcet's Disease

Background Marshalls syndrome or PFAPA (periodic fever, aphtous stomatitis, pharyngitis, cervical adenitis) is a pediatric diseases characterized by recurrent febrile episodes associtaed with head and neck symptoms, improved or cured after tonsillectomy. Differential diagnosis includes infectious angina, Behcets disease, cyclic neutropenia, TRAPS syndrome and other autoinflammatory syndromes. However, part of the patients with Behcets disease may have PFAPA as part of their disease onset. Objectives We aimed to investigate the reported prevalence of PFAPA symptoms in patients with Behcets disease. Methods The patients in the evidence of the Rheumatology Dept, a tertiary referral unit, with confirmed Behcets syndrome (according to ISSG) presenting in the last year, were taken into the cross-sectional study, after informed consent. A questionnaire (AMAB) was developed and employed, with regard to the presence of diagnostic Marshall/ PFAPA features (Thomas 1998), familial history, tonsillectomy, fever presence and pattern and other possible features of BD appearing in childhood. Cyclic neutropenia was ruled out as part of clinical investigations, and data regarded the pathergy, eye examination and thrombotic events were obtained from the medical records. Results We enrolled 21 patients (11 F, 12 M), average age 47.6 yrs, that agreed to answer the questionnaire. In the whole responder BD group, fever was present in 38.1%. We found that 23% of the responder BD patients reported symptoms compatible with a PFAPA diagnosis, with a medium age of onset of 8.2 years. BD was diagnosed at 40±12.8 yrs (15–56), but in the patients with PFAPA symptoms the onset was earlier (28±12.3 yrs). In the 3 patients with tonsillectomy, the symptoms improved for several years, only to reappear milder after adolescence, along with other features of BD. Most patients (76.19%) recalled ulcers since childhood, and isolated oral ulcers generally remained as such until occurrence of other diagnostic BD features. We found no differences in the severity of the disease, eye involvement or thrombosis prevalence in the patients with or without PFAPA features. Conclusions PFAPA may co-exist as an associated disease in BD and is not necessarily an exclusion diagnosis. Although many patients with BD suffer from oral ulcers since childhood, BD symptoms appear in most after adolescence. References International Study Group for Behcets disease. Criteria for diagnosis of Behcets disease. Lancet 1990; 5:335(8697):1078–80. Cantarini L, Vitale A, Bersani G, Nieves LM et al: PFAPA syndrome and Behcets disease: a comparison of the two medical entities based on the clinical interviews performed by three different specialists. Clin Rheumatol 2015 Feb 10. Disclosure of Interest None declared

MAGIC- is it for real?

Question MAGIC syndrome, an acronym for mouth and genital ulcers with inflammed cartilage, is a rare condition described in 1985 [1]. About 20 cases have been reported [2], and its existence is challenged, as it could be just a mere association of Bechet’s disease (BD) with relapsing polychondritis (RP) [3]. Other authors, however, consider it a distinct entity with higher risk of aortic aneurysms [4]. We tried to find out whether this syndrome is a true nosologic entity.

A9.1 Macrophage activation syndrome after mycoplasma pneumoniae infection

Introduction Macrophage activation syndrome is a rare and potentially life threatening condition, triggered by various events like bacterial and viral illness and sometimes it can be a complication of childhood rheumatic disorders. Physical and laboratory results usually show non-remitting fever, hepatosplenomegaly, lymphadenopathy, bleeding diathesis, altered mental status, rash, pancytopenia and impaired liver and renal function tests, elevated triglyceride and serum ferritin levels. Corticosteroids and Cyclosporine are the drugs commonly used in its management. Early diagnosis and prompt treatment can be life saving. Objective To present a case of Macrofage activation syndrome triggered by a Mycoplasma pneumoniae infection. Background A 18 years old male pacient presented with high fever, tachycardia, lethargy, leucopenia and artharlgias after having a Mycoplasma pneumoniae infection treated in the Infectious disease department. Investigations Physical and laboratory results showed hepatosplenomegaly, high fever, tachycardia, low levels of Ig G and Ig M, leucopenia and the bone marrow aspiration showed cells phagocytosing hematopoietic elements. Also, on the basis of the effectuated investigations ( CBC; biochemistry and immunology tests; cultures of boold, urine, stool; abdomen and heart ultrasonography; thoracic CT) other infectious, malignant or rheumatic diseases were exclused. Diagnosis Macrophage activation syndrome triggered by a Mycoplasma pneumoniae infection. Management The patients disease was successfully controlled following the treatement with Methyprednisolone and Cyclosporine. Discussion and conclusion This case illustrates this rare, but potentially life-threatening condition sometimes associated with chronic rheumatic disorders with various triggering events like bacterial and viral illness. Differentiation from a disease flare of a rheumatic disorder is difficult and that is why pacients with this condition need further investigation and careful monitoring. In conclusion, MAS is a severe, potentially life-threatening complication of chronic rheumatic disease; therefore it is essential for clinicians to have a high threshold of suspicion, make an early diagnosis, and start prompt treatment to have success.

AB0460 Anca-positive vasculitis in systemic sclerosis: a tertiary referral center’s experience

Background The association of vasculitis and systemic sclerosis (SSc) is rare. The prevalence of ANCA-positive vasculitis in scleroderma is currently unknown. Objectives To characterize the clinical features, associations and prognosis of ANCA- associated vasculitis occurring in SSc. Methods Systematic retrospective analysis of all patients diagnosed with SSc in the Rheumatology Department, a tertiary referral center in Transylvania, over a 12-year period (2000 to 2012) using the hospital and outpatient database was employed. Epidemiological, clinical, laboratory and histology data were recorded. Patients with mixed connective tissue disease were excluded, as well as the ones with SSc and autoimmune liver disease with ANCA positivity and no clinical signs of vasculitis. Results The charts of 126 SSc patients (86.9% F, 11%M) were analysed. Five cases of ANCA- associated vasculitis in SSc (3.96%) were identified, 3 M and 2 F, 4 limited and 1 diffuse SSc respectively, median age at vasculitis occurrence 63 yrs (30-75). The vasculitis occurred in 2 cases of previously known SSc (after 6 months and 2 years respectively), in 2 cases with previous Raynaud’s phenomenon diagnosis was concomitant and in 1 patient preceded with 6 months the SSc diagnosis. The trigger was apparently infectious in 3 cases. The presenting vasculitic features were in all cases calf necrotic ulcerations, as well as digital ulcers in 2 cases. Overlapping large vessel vasculitis features (aortitis leading to aortic arch aneurysm) was noted in one patient. The biopsy revealed necrotizing vasculitis (4 cases), along with granuloma in the overlap case, leukocytoclastic vasculitis (1 case) and thrombosis (1 case). Complement consumption and pANCA positivity were seen in 4 patients; Scl-70 Ab were positive in 2 cases and anti-centromere antibodies in 2. Pulmonary involvement (ground-glass alveolitis) was noted in 3 cases, pulmonary hypertension in 3, mononeuritis multiplex and/or peripheral neuropathy in 3 and glomerulonephritis in 1. Secondary antiphospholipid syndrome was documented in 1 case. Of note, in one patient autoimmune liver dissease co-existed with leukocytoclastic vasculitis and pANCA positivity. Therapy consisted in cyclophosphamide and methylprednisolone pulses(3 cases) and azathioprine(1 case), antiaggregants and/or anticoagulation, with slow ulcer healing, renal and pulmonary improvement. However respiratory damage was present in all patients. Cutaneous vasculitis recurrence was noted in 1 patient after cyclophosphamide withdrawal. Conclusions Vasculitis seemed to occur mainly in limited SSc and with a slight male predominance. It may point to presentation and diagnosis of SSc. The leg ulcer occurring in SSc may raise the possibility of ANCA- associated vasculitis. A thorough workup for organ involvement is required for an accurate diagnosis and proper treatment. References Liang KP, Michet CJ: ANCA- associated vasculitis in scleroderma; a case series. Rheumatology Reports 2011; 3: e2 Kamen DL, Wigley FM, Brown AN: Antineutrophil cytoplasmic antibody-positive crescentic glomerulonephritis in scleroderma- a different kind of renal crisis. J Rheumatol 2006; 33: 1886-8. Disclosure of Interest None Declared

THU0470 Association of Relapsing Polychondritis with Other Autoimmune Conditions: Experience of a Romanian Center

Background Relapsing polychondritis(RP) is a rare inflammatory disease affecting cartilaginous structures. About one third of the patients with RP have a concurrent or preceding autoimmune disease thus making diagnosis difficult. Objectives To assess the types and prevalence of autoimmune diseases associated with RP patients diagnosed in a single Rheumatology tertiary center. Methods Retrospective analysis of all patients diagnosed with RP over a 12-year period (2000 to 2012) was employed using the hospital and outpatient databases. Diagnosis of RP was made using the McAdam criteria and autoimmune associated diseases (AAD) were defined in accordance with standard international criteria. Results We diagnosed 34 patients (76.4% women) with RP. Mean age at diagnosis was 44.5 ± 16.9 years with a time from onset of 36 months (1-168), after consultations of 4 other specialists (1-8). 22(64%) of our patients had one or more AAD: 10 vasculitis: 2 Behcet/MAGIC, 3 Microscopic Polyangiitis, 1 Wegener granulomatosis, 1 AGC, 1 Undifferentiated vasculitis, 2 Cerebral vasculitis. Five patients had Systemic Lupus Erytematosus, 3 Sjogren syndrome, 1 dermatomyositis, 2 psoriatic arthritis, 1 Hashimoto thyroiditis, 1 Still disease and one rheumatoid arthritis. Interestingly 7 of the patients without AAD had hemathological abnormalities- malignancies were noted in 3 patients, 2 of them diagnosed after RP onset, Common variable immunodeficiency in one patient and Hemophagocytic Syndrome in another. Mean age at diagnosis was 43 for patients with AAD and 46 for non-AAD patients, with a longer time from onset to diagnosis for the non AAD patients (4.44 vs 3.45, p=NS). Cartilage involvement was similar between the two groups. A higher frequency of eye involvement was noted in the non AAD group: scleritis (25% vs 0%, p=0.01), episcleritis (50% vs 4.8%, p=0.03) and loss of vision (16.7% vs 4.8%, p=NS). No significant differences were noted between the two groups regarding cardiovascular, ENT, articular or neurological involvement. Glomerulonephritis had a higher prevalence in the AAD group (9 vs 3), but the difference was not statistically significant. As expected, AAN (57.1% vs 23.1%, p=0.02) and low complement (C3: 23.8% vs 7.7%, p=NS, C4: 15.4% vs 28.6%) were more frequent in the AAD group. Renal (20% vs ), cardiovascular(25% vs 7.7%) and respiratory(35% vs 15.4%) damage were higher in the AAD group, but no statistical difference was noted. Conclusions In our sample AAD were more frequent then reported in the literature, possibly due to referral bias. RP with AAD seems to have poorer outcome with higher organ damage. Awareness of the association of non AAD RP with haematologycal disturbances should prompt the physician for a more detailed screening in this direction. References McAdam LP, O’Hanlan MA, Bluestone R, Pearson CM. Relapsing polychondritis: prospective study of 23 patients and a review of the literature. Medicine (Baltimore). May 1976;55(3):193-215. Cohen PR: Paraneoplastic relapsing polychondritis. Arch Dermatol 2007; 143(7): 949-50. Letko E, Zafirakis P, Baltatzis S, Voudouri A, Livir-Rallatos C, Foster CS. Relapsing polychondritis: a clinical review. Semin Arthritis Rheum. Jun 2002;31(6):384-95. Disclosure of Interest None Declared