50. The great mimic fools again

extremityof the lower limb. Inourcase,only the footandankle regionwas affected, with both feet being affected at different points of time. Recurrence of episodes have been described in the literature, and can affect different anatomical sites. This was the case for our patient, but specifically affected the distal limb on each occasion rather than more commonproximalsites.Episodeshadbeenrelatively frequentalso inour patient,withmultipleepisodesover thepreceding1tenyears -whichalso appears to be an atypical phenomenon.Due to the location of symptoms atthepatient’s feet,her recurrentepisodeshadbeenessentiallymisdiagnosed as prolonged gout flares, thus leading to delayed diagnosis. Unfortunately,basedon the literature, this isamore commonexperience in patients with foot involvement due to its lower frequency and nonspecificnature.Assuch,patientsareatriskofpersistentbonepainsymptomswhichcanaffect functionandsubsequentqualityof life. Key Learning Points: Bone marrow oedema syndrome is a rare condition that can often be missed. Symptoms can be transient in nature with patients not presenting, or being misdiagnosed with alternative conditions. In our described case, the patient’s episode was prolonged thus allowing appropriate investigation. Cases are generally managed conservatively, however gradual resolution can take weeks to months to occur. Literature is limited in regarding medical therapy, however use of bisphosphonates has been described and was utilised in this case. Our patient isundergoingcontinuedfollowupwithin thecommunityunder the rheumatologyteamtomonitorhergradual recovery. Disclosure: S. El-Ghazali: None. K. Bhamra: None. A. Khan: None. M. Burden:None. I.Patel:None.

Introduction: A comprehensive medical history is essential in new patient appointments and is constructed from the building blocks of previous medical encounters. But in the same way that a house is built of bricks, a diagnostic conundrum may be solved by pulling strands of the medical history together to make a coherent whole as observed in a rare case of the auto-inflammatory condition Schnitzler syndrome. Case description: A 44-year-old Caucasian woman was referred to the rheumatology department of a district general hospital for rather nonspecific intermittent small joint arthralgia. She reported a progressive, persistent non-pruritic urticarial rash which was spreading from trunk to limbs and which she now felt affected her ability to deliver care as an allied healthcare professional. She disclosed years of drenching night sweats and maintained a slim but stable weight. She saw immunology for the urticarial rash, managed with fexofenadine and levocetirizine with limited benefit. She saw haematology for an IgM monoclonal gammopathy of undetermined significance (MGUS) and remained under their surveillance. In her family history, her grandmother had rheumatoid arthritis, her mother was treated for systemic lupus erythematosus and her son had a selective IgA deficiency. On examination, an extensive urticarial rash was noted over the patient's abdomen, chest and back. There were no findings of a classical inflammatory arthritis. There was a solitary, 1 cm nonpainful lymph node palpable in the left axilla. The patient had mild abdominal tenderness and had been simultaneously referred also for investigations after complaining of breast pain. The patient had a working diagnosis of both MGUS and chronic urticaria but neither fully explained the night sweats or intermittent arthralgia and prompted widening the list of differential diagnoses which for chronic urticaria includes autoimmune urticaria, cholinergic urticaria, cold urticaria, mastocytosis, and periodic fever syndromes including Muckle-Wells syndrome. At the first rheumatology visit, the suspicion was of an (as yet unknown) unifying diagnosis and an internet search of the main symptoms brought up Schnitzler syndrome at the top of the list. A telephone discussion the following day with the National Amyloidosis Centre confirmed that the patient satisfied the Strasbourg criteria for Schnitzler syndrome and prompted an urgent referral. In the meantime, routine investigations were completed in line with the patient's symptoms and history. A bilateral mammogram showed benign and fibrocystic change and enlarged lymph nodes in both axillae.ACT thorax, abdomen andpelvisshowed mildlyenlarged bilateral axillary nodes with no mediastinal or abdomino-pelvic adenopathy and with a normal liver and spleen. An US guided biopsy of an enlarged axillary lymph node showed non-specific benign reactive lymphadenopathy. Immunology showed a marginally raised rheumatoid factor but was negative for anti-nuclear antibody and extractable nuclear antigens, and ferritin, C3, C4 complement levels, C1 inhibitor, lactate dehydrogenase and immunoglobulin E values were all in normal ranges. Paraproteinaemia had been gradually increasing with immunoglobulin M (IgM) >15 g/L at presentation. There were moderately raised inflammatory markers. A punch biopsy of the skin of the mid back showed features consistent with an urticarial vasculitis without fibrinoid necrosis of blood vessels and slides were also sent for review by an international expert in the condition in Strasbourg. While awaiting skin biopsy results, the patient had her first visit to the national centre with a diagnosis of Schnitzler syndrome followed by prescription of the interleukin-1 antagonist anakinra with rapid improvement in urticarial rash and night sweats. The patient has gained weight and is back to being comfortable wearing short sleeved tops. She relies on daily anakinra to keep symptoms at bay and had re-occurrence of rash when she forgot her medication during a weekend away. An autoinflammatory focused genetic screen showed no mutations. She remains under specialist care with a rapid and sustained drop in serum amyloid A protein levels and a slowing down in increase of IgM levels. She still has some persistent sweats. Discussion: Schnitzler syndrome is a rare auto-inflammatory condition first described in 1972 with the index case dying at the age of 88 years. It likely arises from a defect in the innate immune system and manifests as chronic urticaria/IgM(G) gammopathy/arthralgia/raised inflammatory markers. At least 300 cases have been documented worldwide, mostly in adult Caucasians, but the number of identified cases is increasing with greater awareness of the condition. The family history is typically negative for symptoms of Schnitzler syndrome (one case report of a family positive for a monoclonal gammopathy) and there are no known risk factors for the condition. Currently genetic screening typically includes a panel of autoinflammatory genes but no expanded and familial genome wide studies have been reported. The role of interleukin (IL)-1 matured in the inflammasome is important since a daily subcutaneous injection of the IL-1 receptor antagonist anakinra rapidly controls symptoms. The rapid response to anakinra helps confirm the condition but symptoms rapidly return when the drug is stopped. The course of the disease is generally benign but 15-20 % of patients develop a lymphoproliferative disorder prompting examination of lymph nodes and bone marrow and long-term surveillance. Key Learning Points: Pattern recognition works not only when we already know the pattern but equally when there is strong clinical suspicion of one. Schnitzler syndrome is a rare auto-inflammatory condition that typically responds rapidly to IL-1 antagonists with significant improvement in quality of life. No known risk factors for Schnitzler syndrome are known but familial clustering of both auto-immune and autoinflammatory conditions (as in this case) should be explored in more detail. to the neurosurgery department with acute onset of severe neck pain and brachialgia, following a twisting injury as part of his duties as a village care taker. A CT of the cervical spine demonstrated a C6/C7 disc prolapse and he was listed for adiscectomy. His past medical, family and drug history were unremarkable. He was a non-smoker who drank limited amounts of alcohol. In the past he had worked in an occupation that involved disposing of dead animals and exposure to animal faeces as part of his occupation as a refuse collector. Whilst awaiting this procedure, approximately a month later he developed severe subacute lower back pain which was non-inflammatory in nature but radiated down both legs. This prompted his general practitioner to organise an MRI of lumbo-sacral spine. Prior to the MRI being reported, this imaging was reviewed incidentally at a neurosurgical preoperative clinic and it appeared to demonstrate multiple sclerotic lesions in thoracic and cervical spine suggestive of metastatic disease. Given the above findings, he was referred urgently to the cancer of unknown primary multi-disciplinary team for further assessment. Urinary Bence Jones protein and prostate-specific antigen were normal at this time. CRP was 2.4mg/L and the adjusted calcium was 2.34mmol/L, both also within normal limits. A CT thorax-abdomen and pelvis in January 2017 did not identify a primary malignancy but it did demonstrate indeterminate small pulmonary nodules and mediastinal lymphadenopathy. A bone scan did not show any uptake, and an attempted biopsy of the L4 vertebra was unsuccessful due to severe pain on contact with the periosteum. Further to this, a mediastinal node biopsy was organised via endoscopic ultrasound. In the interim, the gentleman had a PET-CT which showed high uptake in the symmetrical hilar and mediastinal adenopathy along with diffuse bone lesions involving the spine, acetabulum and sternum, raising the possibility of a sarcoid-like reaction secondary to malignancy. A sub-carinal biopsy subsequently demonstrated non-caseating epithelioid cell granulomas with no evidence of infective or malignant process, once again strongly suggestive of sarcoid. Granulomatous inflammation was also further demonstrated on a repeated attempt at bone marrow biopsy. He was then referred for a rheumatology opinion given the limited respiratory involvement in July 2017. Detailed history taking revealed a history of approximately 18 months of night sweats and insidious onset diffuse back pain. Due to his previous occupation an extensive infection screen was carried out including TB, toxoplasma, brucella, lyme and coxiella, all of which were negative. A serum ACE was 68 U/L (0-52 being the normal range). Following extensive serological testing for infective causes, he was started on prednisolone 40mg od in October 2017, which resulted in a dramatic improvement in his symptoms, namely back pain, fatigue and night sweats. Serum ACE normalised. The steroids were tapered after three months; however due to miscommunication the patient stopped it on Easter 2018. A few days later he developed florid synovitis affecting his left and right wrists along with his metacarpophalangeal joint. Steroids were recommenced and methotrexate started. A repeat PET-CT was organised, which confirmed significant interval regression in the intensity of FDG uptake in the spine with unchanged appearances of the lymphadenopathy. Further to this the gentleman rang the department to say he had stopped his methotrexate due to the development of a rash. He was also on amoxicillin for a presumed chest infection at the time. Due to the unclear association, DMARD therapy was changed to mycophenolate and he is currently on 500mg once a day, which isdue to be titrated up to 1g. Discussion: Up to 13% of patients with sarcoid present with radiologically evident skeletal involvement, but it is commonly appendicular.
There are very few case report numbers of axial sarcoid as the primary presentation, especially sclerotic lesions. One of these reports a lady with Crohn's and pelvic sarcoma, whilst the other had a preceding diagnosis of pulmonary sarcoid along with lytic and sclerotic bone lesions. Treatment initiation was also difficult due to the rarity of such a presentation and the extraneous factors such as his occupational history lending to significant diagnostic difficulty. The case is interesting not only due to its rarity but also the possibility of this being a paraneoplastic phenomena. Key Learning Points: Multiple sclerotic lesions in a middle aged man are often a manifestation of metastatic malignancy. It is unusual to see axial sclerotic lesions as a primary manifestation of sarcoid, and it would be worthwhile lending credence to this differential in complex cases that don't fit the typical pattern. It would be of great value for the authors to learn of any similar cases encountered by our peers and their management challenges. Disclosure: R. Raghunath: None. R. Shah:None. E. Baguley:None.

A CASE OF ANTI-SYNTHETASE SYNDROME WITH SUBSEQUENT CMV INFECTION
Asif Nawaz 1,2 , Julie Barber 2 , and Yamin Rashid 2 1 Acute Medicine & Rheumatology, Withybush General Hospital, Haverfordwest, UNITED KINGDOM, and 2 Rheumatology, Withybush General Hospital Haverfordwest, Haverfordwest, UNITED KINGDOM Introduction: A 43 year old male presented with history of shortness of breath, proximal muscle weakness, and pompholyx. He had a positive ENA, positive Jo-1 antibodies, raised CK. High-resolution computed tomography (HRCT) and VATS biopsy showed nonspecific interstitial fibrosis. These findings along with clinical features and investigations confirmed the diagnosis of antisynthetase syndrome (ASS). Case description:A 43 year old male with no significant past medical history was referred to rheumatology clinic with complaints of muscle weakness, shortness of breath on exertion, muscle aches particularly in his knees and generalised malaise. His exercise tolerance had significantly reduced from a normal active lifestyle to being unable to climb tanks as part of his work as an engineer on an oil refinery. He denied any chemical or asbestos exposure as part of his job. He was an ex-smoker (20 pack year's history), no alcohol use, no known allergies and did not take any regular medications. Physical examination revealed grade 1 clubbing; examination of the chest was unremarkable except the localised area of bronchial breathing in right base. Cardiovascular and abdominal examinations were unremarkable. On neurological examination, the only positive finding was proximal muscle weakness in the thighs. Routine blood tests including FBC, U&Es, LFT's were normal. His erythrocyte sedimentation rate was 19 (0-15 mm/hr) and C-reactive protein was normal. Creatine kinase (CK) levels were elevated at 575 (0-20 mg/L). Serum ferritin urinalysis, hepatitis serology, HIV screen were unremarkable. He had a negative rheumatoid factor (<20.0) but positive ENA result with positive anti-Jo-1 antibodies (negative for anti-La, anti-RNP, and anti-Sm antibodies). ANA, ANCA, RNP, and scl-70 were negative. C3, C4 and immunoglobulin level were normal. A high resolution computed tomography (HRCT)scan showedreticularopacitiesbilaterallyinthe subpleuralareas, at the level of both lower lobes, dorsally and minor similar changes at the level of the right upper lobe, anterolaterally. Discrete patchy groundglass opacities seen at the dependent areas, in both lung bases. Overall appearances were most in keeping with non-specific interstitial pneumonitis (NSIP). The diagnosis of ASS in this patient was established on the basis ofthehistoryofpompholyxinthepast(although hehad nohyperkeratosis on the hand), Positive Anti Jo-1, NISP, myositis and raised CK. This patient was started initially on prednisolone and methotrexate following which he responded very well and his CK dropped down to normal, two years later he developed changes on HRCT suggestive of methotrexateinduced pneumonitis and methotrexate was withdrawn. He was treated with immunoglobulin infusion and steroid, but lung function tests continued to deteriorate. In view of this, he underwent VATs biopsy which showed NSIP pattern. He had cyclophosphamide in six cycles then MMF (mycophenolate mofetil) as maintenance therapy and advice from a center of excellence. Lung function tests improved significantly. Four years after presentation, he developed life-threatening CMV pneumonitis whilst on maintenance MMF 1g BD (commenced 22 months prior) and prednisolone 10mg once daily and was intubated and ventilated and required valganciclovir. HIV testing and testing for Pneumocystis carinii were negative. Subsequent testing showed an inadequate response to pneumonia and tetanus vaccinations and he developed herpetic lesions whilst on MMF 500mg daily and prednisolone 10mg daily and increasing immunosuppression was thought inadvisable. The recent development of EMG pattern consistent with myositis with a rise in total CK to 563 U/L has been treated with dose MMF and immunoglobulin infusion sixweekly. His lung function test in 2012 showed FEV1 3.88(91%), the FVC 4.43 (86%) Kco 85%, and TLco of 66< in 2012 while in December 2014 these figures were FEV1 4.16(99%) FVC 4.89(95%) Kco64%, and TLco of 52%. His last lung function test performed in September 2017 were FEV1 3.64 (89%) FVC 4.4 (88%) Kco 78%. Myositis improved significantly and he now cycles for 50 miles/weekregularly. Discussion: ASS is an immune-mediated disorder which is very rare (prevalence of 1.5 per 100.000 populations). Hallmark features consist of the combination of interstitial lung disease (ILD), myopathy, fever, and polyarthralgia. The autoimmune screenincludes anti-aminoacyl-transfer RNA synthetase positive more frequently that of anti-Jo-1 antibodywhich is present in approximately 80% of cases. Other less frequent antibodies in ASS are anti-PL-7 and anti-EJ.ILD is being reported in 80-90% of cases of ASS and lung involvement is thought to be the most important prognostic indicator. NSIP is the most frequently reported histological pattern in ASS and the presence of fibrosis is an adverse predictor for response to immunosuppressive therapies.Myositis is reported in 30-60% of ASS patients and anti-Jo-1 positivity can pre-date clinical myositis. Most treatment regimens for ASS describe a combination of glucocorticosteroids and other immunosuppressants such as cyclophosphamide with pulmonary disease response dictating treatment duration. Key Learning Points: Mycophenolate mofetil is increasingly used and experience in the renal transplant field suggests that although primary CMV infection is not more frequent than in other renal transplant patients not on MMF. The infection is more likely to be symptomatic. Rheumatologists should be alert to this potential diagnosis in patients treated with MMF. In summary, ASS is a rare systemic autoimmune condition characterized by a combination of ILD, myopathy, fevers, and polyarthralgia. HRCT typically shows an NSIP pattern and may help to suggestthe diagnosisinapatientpresenting with appropriate clinical features. Atypical infection may complicate the disease course when immunosuppressive agents are used. Disclosure: A. Nawaz: None. J. Barber:None. Y.Rashid: None.

MYCOPHENOLATE FOR CONCURRENT MACROPHAGE ACTIVATION SYNDROME AND LUPUS FLARE: A CASE REPORT
Andrew Porter 1 , Gagandeep Takhar 1 , and Venkat Reddy 1 1 Rheumatology, West Middlesex Hospital, London, UNITED KINGDOM Introduction: Macrophage activation syndrome (MAS) is a rare but lifethreatening condition characterised by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leucocytes and platelets. Due to its mimicry of other conditions it is often under recognised leading to significant delays in diagnosis. We describe a case of a 42 year old lady with active systemic lupus erythematosus (SLE) who presented with lethargy, rash and joint pain and within 3 days of onset of significant cytopenias was diagnosed with MAS. This early diagnosis meant that her condition responded and resolved with less intensive immunosuppression.
i34 September 2018 CASE REPORTS