EP26 HIV infection masquerading as connective tissue disease

Abstract Case report - Introduction Connective tissue diseases are multisystem disorders. Diagnosis and evaluation of suspected cases is not straight forward in most of the cases. This case describes the significance of considering a broader approach when evaluating a suspected case of connective tissue disease. Case report - Case description We describe a case of 58 years old non-smoker lady, presented with acute onset livedo reticularis rash on lower limbs and background of sicca symptoms, oral ulcers, fatigue, paraesthesias in feet and arthralgias without any systemic or inflammatory joint symptoms. General examination showed livedo reticularis rash on both elbows and lower legs. There was no evidence of peripheral joint synovitis, but she had nodal osteoarthritis in her hands. Systemic examination was unremarkable. Investigations revealed anaemia, pancytopenia, ESR of 77, low C4 and urine dipstick positive for leucocytes, nitrates, protein, and blood. Schirmer’s test, ANA and ENA screen was positive with positive RNP and SMdp antibody. She also had hypergammaglobulinemia in a polyclonal pattern. Nerve Conduction and EMG studies revealed mild axonal sensory neuropathy. Case report - Discussion This lady appeared to have mixed connective tissue disease with mixed features of Sjögren’s syndrome and systemic lupus erythematosus. She was started on Hydroxychloroquine but stopped it shortly after developing floaters in her eye. She had poor response to Depomedrone injection. She had ongoing symptoms of fatigue, weight-loss, loose stools, and abdominal pain, investigated further and CT scan showed hyperdense liver lesions and mesenteric lymphadenopathy. Esophagogastroduodenoscopy showed oesophageal candidiasis. She was admitted with progressive symptoms. Further investigations showed a positive HIV test and liver biopsy came back positive for anaplastic lymphoma, later she was diagnosed with advanced HIV disease, rapidly deteriorated with neutropenic sepsis and multi-organ failure, and unfortunately died. Case report - Key learning points This lady initially presented with symptoms of connective tissue disease and investigations in keeping with this diagnosis. Unfortunately, by the time she was tested for HIV infection, it was already too late. There could be overlap of symptoms of connective tissue disease and viral infections e.g. HIV infection. Autoantibodies may be falsely positive in infections e.g. HIV and in malignancy. Risk factors of HIV infection should be considered during assessment of multisystem diseases like connective tissue diseases particularly prior to immunosuppression. Viral screening including HIV test should be considered in all high-risk patients and particularly if the symptoms are atypical and do not quite fit well with the diagnosis.

keeping with bilateral Madelung deformity. MRI has never suggested synovialenhancement of sacroiliac joints. Therapeutically she has trialled conventional disease modifying therapy including azathioprine, mycophenolate, and methotrexate. Disease activity continues to be high despite anti-TNF biologic DMARDs (adalimumab, infliximab and golimumab). Use of anti-TNF therapy has been complicated by development of CMV disease and identification of antiinfliximabantibodies following interruption. Ongoing steroid use from 18 months, hyperthyroidism and a chronic inflammatorystatehasledto osteoporosis. DEXA Z-scores reveal lumbar -2.7, right femoral neck -3.2 and left femoral neck -4.7. Systemic corticosteroid has tried to be offset through dexamethasone intravitreal implants. Consequentially, uncontrolled disease burden has also led to significant input from orthopaedics, including bilateral total knee replacements by age 28. However, with MS, we are hopeful with the commencement of anti-IL6 receptor therapy (Tocilizumab) that this may represent a new line of effective treatment. Case report -Discussion: Blau syndrome is a juvenile sarcoidosis characterised by the triad of granulomatous arthritis, recurrent uveitis, and dermatitis. It is inherited in an autosomal dominant pattern due to a missense mutation in the gene encoding for nucleotide-binding oligomerisation domain containing protein 2 (NOD2/CARD15). It is proposed that NOD2 as intracellular receptors, for antigen such as lipopolysaccharide, may subsequently act like toll-like receptors to cascade NF-kappa B and downstream inflammatory pathways. Its role is also implicated in other inflammatory conditions such as Crohn's disease. As represented in our case, uveitis presents the highest morbidity, with median age of eye disease presenting at 60 months and remains persistent despite topical or systemic therapy in more than 50% of patients. In comparison to Juvenile idiopathic arthritis, Blau often leads to a pan rather than anterior segment only uveitis and in a greater proportion of cases. In addition to biological factors, much of MS's treatment decisions have been guided by her and her psychology.In attempting to address the difficulties of her condition, including coordinating several specialities clinics whilst developing as a young woman, she has frequently discontinued therapywhich may representan area that shecan exact control given little perceivedbenefit. TNF-alpha inhibitors have been validated through randomised controlled trials for the use of refractory sarcoidosis. However recent literature has highlighted the use of targeting the IL-6 pathway in multisystem chronic sarcoidosis. It is believed this may represent a key cytokine in promoting Th17 effector cells that have been implicated in sarcoidosis bio-pathology. However ongoing case reports and ideally large-scale studies are needed. Case report -Key learning points: Blau syndrome as a rare lifelong form of early onset sarcoidosis offers insight into challenging therapeutic decision makingwhere limited clinicaltrial data is available. The James Cook University Hospital, Middlesbrough, United Kingdom

SJÖ GREN'S SYNDROME AND ITS MIMICS
Case report -Introduction: Connective tissue diseases are multisystem disorders. Diagnosis and evaluation of suspected cases is not straight forward in most of the cases. This case describes the significance of considering a broader approach when evaluating a suspected case of connective tissue disease. Case report -Case description: We describe a case of 58 years old nonsmoker lady, presented with acute onset livedo reticularis rash on lower limbs and background of sicca symptoms, oral ulcers, fatigue, paraesthesias in feet and arthralgias without any systemic or inflammatory joint symptoms. General examination showed livedo reticularis rash on both elbows and lower legs. There was no evidence of peripheral joint synovitis, but she had nodal osteoarthritis in her hands. Systemic examination was unremarkable.
Investigations revealed anaemia, pancytopenia, ESR of 77, low C4 and urine dipstick positive for leucocytes, nitrates, protein, and blood. Schirmer's test, ANA and ENA screen was positive with positive RNP and SMdp antibody. She also had hypergammaglobulinemia in a polyclonal pattern. Nerve Conduction and EMG studies revealed mild axonal sensory neuropathy. Case report -Discussion: This lady appeared to have mixed connective tissue disease with mixed features of Sjö gren's syndrome and systemic lupus erythematosus. She was started on Hydroxychloroquine but stopped it shortly after developing floaters in her eye. She had poor response to Depomedrone injection. She had ongoing symptoms of fatigue, weight-loss, loose stools, and abdominal pain, investigated further and CT scan showed hyperdense liver lesions and mesenteric lymphadenopathy. Esophagogastroduodenoscopy showed oesophageal candidiasis. She was admitted with progressive symptoms. Further investigationsshowed apositiveHIVtest andliver biopsy camebackpositive for anaplastic lymphoma, later she was diagnosed with advanced HIV disease, rapidly deteriorated with neutropenic sepsis and multiorgan failure, and unfortunately died.

Sharmin Nizam Mid Yorkshire Trust, Wakefield, United Kingdom
Case report -Introduction: Sjö gren's syndrome is a chronic, autoimmune condition usually characterised by reduced function of exocrine glands (mainly lacrimal and salivary) resulting in sicca symptoms.
Affected patients may also have extra-glandular features including arthritis, neuropathy,and interstitial nephritis. This is a case of possible Sjö gren's syndrome without classical features like positive serology or histology. This makes the patient feel anxious about his overall health. Diagnostic criteria have been debated over the years and whilst some clinical features may be suggestive, more objective evidence can help guide discussions on long term management and prognosis to allay anxiety. Case report -Case description: A 63-year-old Asian gentlemanhas had 6 years of intermittent cervical lymphadenopathy, dry eye and mouth symptoms withoutweightlossorrespiratorycomplaints.Hisbackground includes ulcerative colitis (relatively stable), angina, hypertension, degenerative back pain (confirmed on MRI), dental extraction and diabetes.
Interval FNA sampling and excision biopsy of a prominent chain of right cervical nodes on separate occasions showed "reactive changes" with negativeMycobacterium TB screening (serology and lymph nodes). Blood tests show a normal CRP (<5 mg/L), ESR 36 mm/h, raised polyclonal IgG 28.6 g/L (IgG subclass 1, 20.40 g/L, subclass 2, 9.36g/L, subclass 3, 0.954g/L, subclass 4, 9.430g/L) , normal complement and negative results for ANA, HLA B27, Anti CCP and ANCA. Bilateral submandibular gland ultrasound showed hyperechoic lesions consistent with either chronic sialadenitis or Sjö gren's. FNA sampling of an intra-parotid lesion showed a"reactive" lymph node. A left lower lobe 5mm calcified granuloma seen on plain film was confirmed onCT chest imaging along with mild inflammatory changes (lingual area) and multiple soft tissue density nodules up to 1cm in the anterior mediastinum. Initially thought thymoma related, later it was agreed these were benign lymph nodes after noting bilateral, sub-centimetre axillary and pre-tracheal nodes of similar appearance. Following annual surveillance, a recent scan shows persistence of the lingular nodular focus, mediastinal lymphadenopathy and a 4mm ground glass nodule not thought suitable for PET CT or CT guided sampling. The previously seen parotid lymph node appears reduced and scattered low grade nodes areseen inthe neck, chest,and portahepatis.
Ophthalmologists note a poor-quality tear film with an equivocal Schirmer's test. He has been treated for blepharitis and diagnosed with macular oedema. He was due to have a labial gland (lip) biopsy but later declined the procedure. Case report -Discussion: Sjö gren's syndrome has a female preponderance and is usually associated with sicca symptoms, a positive Schirmer's test andautoantibodies (anti-Ro and anti-La).Extra-glandular 30 https://academic.oup.com/rheumap i30 EPOSTER