EP24 Arthritis mutilans coexisting with three separate granulomatous diseases

Abstract Case report - Introduction Granulomatous disorders are diverse in their aetiologies and presentations. We present an unusual case of severe psoriatic arthritis patient who subsequently developed multiple granulomatous diseases over time, granulomatous interstitial nephritis, granulomatous sarcoidosis with hilar lymphadenopathy and localised laryngeal granulomatous inflammation secondary to lambda type amyloidosis. Case report - Case description 52-year-old gentleman with arthritis mutilans secondary to severe poorly controlled psoriatic arthritis was followed up in Rheumatology clinic. Earlier therapy with leflunomide and methotrexate provided inadequate control. Golimumab, despite giving a good response, was stopped in 2013 after 5 months of treatment due to acute kidney injury. Renal biopsy revealed granulomatous interstitial nephritis, thought to be Golimumab-induced based on the timing of usage and reversibility with discontinuation. He was then trialled on Ustekinumab and Secukinumab in 2016 and 2017 respectively with variable response. He also had a few-years history of voice change (high pitched) and sore throat which he attributed to recurrent colds. He denied dysphagia or breathlessness, and he did not have stridor. He has never smoked and only drank alcohol occasionally. ENT team noted white deposits on erythematous and thickened false vocal cords and posterior glottis with a thin web on microlaryngoscopy, which histologically proved to show granulomatous inflammation, potentially consisting of amyloid, although congo red stain was negative. On further investigation, including SAP scan, he was diagnosed with localised lambda type amyloid. Increasing throat pain and worsening dysphonia prompted change of management from conservative to a surgery at a specialist centre and an input from speech and language therapy team. During this time, consideration for Etanercept for his joint and skin disease was put on hold, pending further management of laryngeal amyloidosis. Furthermore, he presented to hospital with breathlessness in 2019, where his chest X-ray showed bulky right hilum and a follow-up CT chest revealed calcified right hilar and mediastinal lymphadenopathy, ground glass opacification and consolidation. Histology from hilar node was suggestive of sarcoidosis, with stain negative for amyloid. He underwent removal of false vocal cords for his symptomatic laryngeal amyloidosis. He continues to be followed up at the local Rheumatology, Dermatology and ENT team. Case report - Discussion Granulomatous diseases have vast aetiologies, including infectious, immunological, neoplastic, and chemical-induced processes. The age at which they affect patients and tissue they involve also vary hugely. This is the first reported case of three seemingly unrelated granulomatous diseases occurring in a single patient with severe refractory psoriatic arthritis. Retrospective reassessment of the histology samples supported that these are three separate pathologies. It is very unusual for one patient to acquire multiple separate granulomatous diseases, which was why the diagnostic process of this patient was challenging. In this case, managing the original underlying psoriatic arthritis was particularly difficult due to interruptions of treatment for adverse drug effects and investigations and treatment of subsequent granulomatous diseases. The case also raises questions about possible currently unknown association between the pathologies. Case report - Key learning points Key points are the uniqueness of this case and that it highlighted the possibility of currently under-reported association between these three granulomatous conditions. As ever, a multidisciplinary approach to managing such a complex patient is important for the provision of good care.

His past medical history was also remarkable for anxiety and depression. There was nofamilyhistory of muscle disease. Serology revealed a Creatine Kinase (CK) of 773 IU/L (32-294 IU/L). He had an equivocal signal recognition particle (SRP) antibody result, which was later repeated and found to be negative. His EMG showed myopathic changes in his distal and proximal lower limb muscles with profuse spontaneous activity,indicating anactive myopathicprocess. MRI of his lower limbs showed symmetrical fatty infiltration in the distal semimembranosus and short head of biceps femoris muscles with no clear oedema. A muscle biopsy showed diffuse MHC Class 1 upregulation with nemaline rods. Treatment with pulsed IV methylprednisolone was started, in addition to Mycophenolate Mofetil (MMF) as steroid therapy was not sufficient to suppress his disease. He had a reduction in his CK to 205 IU/L and no activity in his skeletal muscle on FDG-PET CT. His power improved to 3/5 onMRCgrading. Case report -Discussion: Three distinct patterns of muscle involvement in sarcoidosis are recognised: chronicmyopathy, nodular myopathy, and acute myopathy. Symptomatic muscle disease in sarcoidosis is rare and it is important to consider other potential aetiologies of a progressive myopathy, even in a patient with established multisystem sarcoidosis. This case is interesting as there was diagnostic difficulty in ascertaining the diagnosis, which potentially included a corticosteroid-induced myopathy, SRP necrotising myopathy, oreven anemaline myopathy. Corticosteroid myopathy has a similar distribution to a sarcoid myopathy. However, the patient's clinical phenotype, elevated muscle enzymes, EMG findings, and histological data favoured an inflammatorymyositis. SRP necrotising myopathy is characterised by rapidly progressive proximal muscle weakness with necrotic muscle fibres, scant inflammation, and a significant elevation in muscle enzymes, which were not seen in this patient. The patient's weakness was more insidious in onset, with diffuse inflammation on muscle biopsy. Nemaline rods were seen on biopsy, however these were only present in one area, which is atypical of a nemaline myopathy. Furthermore, the presence of many loculated fibres on biopsy and upregulation of MHC class 1 was more in keeping with a diagnosis of an inflammatory myopathy secondary to sarcoidosis, even in the absence of non-caseating granulomas onmuscle biopsy. There are norandomised controlled trials of treatments insarcoid myopathy. While methotrexate is most used in steroid-recalcitrant myositis, the patient's liver fibrosis preluded this therapy, thus MMF was trialled instead. Co-existing inflammatory muscle disease with sarcoidosis has been documented infrequently in the literature. They both have overlapping symptoms with contrasting treatment strategies. In this patient, the musclebiopsy pointed toanidiopathic inflammatorymyopathy (IIM)without granulomatous infiltration, it is intriguing to consider whether treatment of an IIM with intravenous immunoglobulin or rituximab would have resulted in better clinical outcomes. Case report -Key learningpoints: Keypoints: Even though symptomatic muscle involvement in sarcoidosis is uncommon, a sarcoid myopathy should be suspected in symptomatic patients with known or suspected pulmonary or extrapulmonary sarcoidosis. In patients without known sarcoidosis but with unexplained muscle symptoms, particularly in the setting of a multisystem illness, sarcoid myopathy should be considered in the differential diagnosis. MRI and muscle biopsy are useful in distinguishing a sarcoid myopathy from a corticosteroid-induced myopathy as illustrated in this case. Fluorine 18 fluorodeoxyglucose (FDG) PET/CT is sensitive for assessment of the inflammatory activity of sarcoidosis in any organ. In this patient, FDG-PET was useful in evaluating active sarcoid lesions and evaluating the therapeutic effects of Mycophenolate Mofetil on his sarcoid myopathy. Although there is limited data to guide treatment in a sarcoid myopathy, Mycophenolate Mofetil can be used as an alternative to Methotrexate.

Ritsuko Saito and Ernest Wong
Queen Alexandra Hospital, Portsmouth, United Kingdom Casereport-Introduction:Granulomatousdisordersarediverseintheir aetiologies and presentations. We present an unusual case of severe psoriatic arthritis patient who subsequently developed multiple granulomatous diseases over time, granulomatous interstitial nephritis, granulomatous sarcoidosis with hilar lymphadenopathy and localised laryngeal granulomatous inflammation secondary to lambda type amyloidosis.
Case report -Case description: 52-year-old gentleman with arthritis mutilans secondary to severe poorly controlled psoriatic arthritis was followed up in Rheumatology clinic. Earlier therapy with leflunomide and methotrexate provided inadequate control. Golimumab, despite giving a good response, was stopped in 2013 after 5 months of treatment due to acute kidney injury. Renal biopsy revealed granulomatous interstitial nephritis, thought to be Golimumab-induced based on the timing of usage and reversibility with discontinuation. He was then trialled on UstekinumabandSecukinumabin2016 and2017respectively with variable response.
He also had a few-years history of voice change (high pitched) and sore throat which he attributed to recurrent colds. He denied dysphagia or breathlessness, and he did not have stridor. He has never smoked and only drank alcohol occasionally. ENT team noted white deposits on erythematous and thickened false vocal cords and posterior glottis with a thin web on microlaryngoscopy, which histologically proved to show granulomatous inflammation, potentially consisting of amyloid, although congo red stain was negative. On further investigation, including SAP scan, he was diagnosed with localised lambda type amyloid. Increasing throat pain and worsening dysphonia prompted change of management from conservative to a surgery at a specialist centre and an input from speech and language therapy team. During thistime,considerationforEtanerceptforhisjointandskindisease was put on hold, pending further management of laryngeal amyloidosis. Furthermore, he presented to hospital with breathlessness in 2019, where his chest X-ray showed bulky right hilum and a follow-up CT chest revealed calcified right hilar and mediastinal lymphadenopathy, ground glass opacification and consolidation. Histology from hilar node was suggestive of sarcoidosis,with stain negative foramyloid. He underwent removal of false vocal cords for his symptomatic laryngeal amyloidosis. He continues to be followed up at the local Rheumatology, Dermatology and ENT team. Case report -Discussion: Granulomatous diseases have vast aetiologies, including infectious, immunological, neoplastic, and chemicalinduced processes. The age at which they affect patients and tissue they involve also vary hugely. This is the first reported case of three seemingly unrelated granulomatous diseases occurring in a single patient with severe refractory psoriatic arthritis. Retrospective reassessment of the histology samples supported that these are three separate pathologies. It is very unusual for one patient to acquire multiple separate granulomatous diseases, which was why the diagnostic process of this patient was challenging. In this case, managing the original underlying psoriatic arthritis was particularly difficult due to interruptions of treatment for adverse drug effects and investigations and treatment of subsequent granulomatous diseases. The case also raises questions about possible currently unknown association between the pathologies. Case report -Key learning points: Key points are the uniqueness of this case and that it highlighted the possibility of currently under-reported association between these three granulomatous conditions. As ever, a multidisciplinary approach to managing such a complex patient is important forthe provision of good care.
EP25 BLAU SYNDROME: A LIFETIME OF SARCOID Case report -Introduction: Here we explore a case of a 31-year-old female treated with juvenile arthritis rebranded as Blau syndrome. This is characterised by sarcoid involvement principally of her eyes as well as skin, kidneys, and joints. We aim to explore her management challenges and complications. Case report -Case description: 31 MS of Afro-Caribbean descent was diagnosed with early onset sarcoidosis at the age of 18 months. She was later found to be NOD2 gene positive but has no significant family history. Her health has been further complicated by her diagnoses of growth hormone deficiencyand hyperthyroidism secondary to multinodulargoitre. Clinically MS has a short stature and profound deafness. A legacy of the ophthalmic morbidity, panuveitis, has led to a visual acuity is 6/15 in her left eye and her right reduced to counting fingers due to developing endophthalmitis in 2019. Her arthritis is stable, but there are flexion deformities primarily involving her proximal interphalangeal joints reducing her grip function. In adulthood she does not have significant cutaneous changes.
Investigations have revealed her to be anti-nuclear and anti-neutrophil cytoplasmic antibody negative. Radiologically, hand films show sparing of erosive changes, radiocarpal subluxation, and deformity of carpi in https://academic.oup.com/rheumap 29 EPOSTER i29