OA23 The different faces of childhood-onset systemic lupus erythematosus…all in one child

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Abstract Introduction Childhood-onset systemic lupus erythematosus (cSLE) is a chronic, multi-system autoimmune disease, with variable clinical and immunological presentations. Disease phenotype and severity can vary significantly between patients. cSLE tends to be more severe and aggressive than adult-onset disease; yet early disease recognition and diagnosis can be challenging due to its heterogeneous presentation and overlap with other paediatric conditions. We report a case of cSLE in an 11-year-old boy, highlighting the diagnostic and treatment challenges faced. Our case demonstrates the importance of cross-specialty and multi-disciplinary team work to aide diagnosis and treatment choices, in order to limit damage accrual and improve outcomes. Case description 11-year-old, male, Pakistani heritage, UK-born, non-consanguineous parents PC • Admission to local hospital with 1-month history of daily fever (max 41 °C), loose stool, severe abdominal pain • Transferred to GOSH for multi-team review (Gastroenterology / Infectious Diseases / Haematology / Rheumatology) Initial differentials considered in context of PUO • Infection – Intestinal-TB, parasitic-enteric infection • Infiltration – Lymphoma (mainly Burkitt’s) • Inflammation – Inflammatory bowel disease (initial working diagnosis); Rheumatological (cSLE, Vasculitis) Relevant HPC Symptoms/signs evolved after admission to GOSH and included: • Lethargy / drowsiness • Malar rash • Macroscopic haematuria / pedal oedema • Left ankle pain/swelling • Testicular pain/swelling. Underwent exploration/fixation (Dx necrotic hydatid of Morgagni) Examination (on admission to GOSH) • Looked unwell, drowsy, combative, GCS 13/15 (E3, S4, M6) • Malar rash, mouth ulcer (hard palate) • Generalised abdominal tenderness, guarding, no rebound, BS present • Swollen left ankle • Pedal oedema Summary of key investigations • Anaemia, thrombocytopenia, lymphopenia • ANA1:2560 homogeneous • dsDNA>379IU/ml • ENA - anti-Ro/anti-La positive • Low C3/C4 • DAT positive • Triple positive anti-phospholipid antibodies • ADAMTS-13 activity: normal • Urine ACR>600 mg/mmol • ID screen(+CSF):negative Significant results of multi-organ review • Neurology – MRI Brain in keeping with CNS vasculitis +/-Macrophage activation syndrome (MAS) • Ophthalmology - Solitary cotton wool spot in the right eye • ENT – Nosebleeds • Cardiology - Small pericardial effusion with significant rise in troponin and pro-BNP (without haemodynamic compromise) • Respiratory – Bilateral pleural effusions • Renal - Class III LN with features of thrombotic microangiopathy on renal biopsy • Gastroenterology – CT abdomen with ascending colitis in CT • Genital - Necrotic hydatid of Morgani • Haematological - Antiphospholipid syndrome (triple positive antibody profile with PICC line clot) • Musculoskeletal – Arthritis • Dermatology – Malar rash • Other – Macrophage activation syndrome with evidence of CNS involvement Treatment summary • IV methylprednisolone pulses (4-sets, ranging from 3-5 days) – switched to low dose IVMP (equivalent to PO Prednisolone 2 mg/kg/day) • Rituximab • Cyclophosphamide as per systemic vasculitis protocol • Prophylactic fluconazole and trimethoprim/sulfamethoxazole • Subcutaneous enoxaparin • Amlodipine (management of hypertension) • MAS treatment - AnakinraàCiclosporin Discussion This was a complex case, demonstrating a severe presentation of cSLE with significant multi-system involvement. It highlights nicely the initial diagnostic challenges faced in such cases when children present with non-specific symptoms such as fever and abdominal pain. The three “I” approach to guide team reviews and investigations was applied, namely, to consider infection, infiltration (malignancy) and inflammation. Given the initial presentation, inflammatory bowel disease sat high on the list of differential diagnoses, whilst exclusion of infection (including abdominal TB) and malignancy (mainly Burkitt’s lymphoma) was important. In our patient, almost all organ systems were affected, and balancing treatment choices in terms of risk versus benefit required continual review and multi-team discussion. Some specific scenarios included consideration of plasma exchange in the context of triple antiphospholipid antibody positivity, features of TMA on renal biopsy (although multiple blood films were non-suggestive of TMA and ADAM-TS13 activity was normal) and severe multi-organ disease; alongside the anti-coagulation conundrum in view of evolving anti-phospholipid syndrome with an occlusive PICC line clot in a patient with down-trending platelet count and hypofibrinogenemia, and clinically a history of nosebleeds, macroscopic haematuria and a frank gastrointestinal bleed requiring blood cell transfusion. Key learning points 1. Diagnostic challenges faced in the context of multi-system presentation of disease 2. Importance of continual assessment and multi-specialty collaboration when there is initial diagnostic uncertainty and evolution of symptoms over time 3. Therapeutic challenges, highlighting the need to balance risk / benefit of treatment choices and importance of multi-team discussions to reach consensus management plans 4. Prophylactic treatment considerations in terms of opportunistic infection cover in a sick, immunosuppressed child; and limitation of secondary complications, both iatrogenic and secondary to disease features e.g. clot / bleeding risks

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