437. Juvenile systemic lupus erythematosus debut with atypical haematological manifestations and macrophage activation syndrome: case report
Creators: name: Ana Laura Recalde Orrego1, 3
Publisher: name: Zenodo
Year: 2022
Subjects: Vasculitis
ANCA
Abstracts
Giant Cell Arthritis
MPA
GPA
EGPA
Takayasu
IgA vasculitis

description: <strong>Presentation of case: </strong>A 6-year-old female patient, with painless left submaxillary swelling of 3 weeks evolution. Fever for 1 week (daily peaks up to 38°C), and arthritis (metatarsal joints). Remote history of repeated epistaxis with spontaneous resolution. On hospitalisation, there was evidence of left submaxillary swelling (without local inflammatory signs), ulceration of the jugal mucosa and ecchymosis. During hospitalisation, the patient remained febrile, with arthritis, mainly elbows and knees and malar erythema. Submaxillary swelling increased in size and became painful, without other inflammatory signs. <strong>Diagnosis testing: </strong>Laboratory showed mild anaemia, elevation of inflammatory biomarkers (erythrocyte sedimentation, C-reactive protein, and fibrinogen), blood dyscrasia with decreased prothrombin time and coagulation factor II, and prolonged activated partial thromboplastin time. Occult blood in faeces was positive. Antinuclear antibody (ANA), lupus anticoagulant (aPL) and anticardiolipin IgM were positive. Serum complement C3 and C4 were consumed. During the hospital stay, laboratory results exhibit pancytopenia, hypofibrinogenemia, elevated liver enzymes, elevated acute phase reactants, and hypertriglyceridemia (see table). Ultrasound showed pleural and pericardiac effusion and heterogeneous hypoechogenic structures (9.2 cm<sup>3</sup> and 5.4 cm<sup>3</sup>) in the submaxillary region. Puncture confirmed a haematoma as the cause of the submaxillary swelling. All cultures were negative (blood, urine and punctured haematoma). A bone marrow aspiration was normal. <strong>Differential and Final diagnosis: </strong>Initially the submaxillary swelling was considered as an infectious process with poor response to antibiotic therapy, considering other differential diagnosis. The patient persisted with fever, joint pain, and ecchymosis, leading to the hypothesis of an immunological disorder. Because the persistent dyscrasia and anaemia, a haematological disorder was studied. A diagnosis of juvenile systemic lupus erythematosus (jSLE) with atypical haematological presentation was considered (deficiency of coagulation factor II, lupus anticoagulant [aPL] and macrophage activation syndrome [MAS]). Autoimmune haemolytic anaemia, idiopathic thrombocytopenia, antiphospholipid syndrome, and lymphoproliferative processes were ruled out. The poor clinical response under antibiotic treatment during hospitalisation, forced to consider haematological and immunological causes allowing the final diagnosis of jSLE with MAS. <strong>Discussion of Management: </strong>Coverage with broad-spectrum antibiotics was started, probabilistically covering community germs (cefotaxime in association with clindamycin) and was extended to resistant germs (vancomycin in association with piperacillin tazobactam). When a diagnosis of jSLE is made she received boluses of methylprednisolone, immunoglobulin, and hydroxychloroquine. Due to dyscrasia she received vitamin K, transfusion of fresh frozen plasma and one transfusion of concentrated red blood cells. The patient had a good response and favourable evolution. Haematological manifestations in LES are frequent, the most common are leukopenia, thrombocytopenia and anaemia, it can be manifested by haemorrhages or thrombosis episodes. MAS can develop during disease flare of jLES, and as at this case, clinical onset. <strong>Conclusion: </strong>Atypical haematological manifestation may be the disease onset in jSLE. Epistaxis and blood dyscrasia were the guiding elements for the diagnosis and clinical management of the patient. MAS occurs in jSLE mainly during periods of disease activity as at clinical onset <strong>Disclosures: </strong>None <strong>Table 1. </strong>Laboratory tests on admission, during hospitalisation and at discharge <strong>Presentation of case: </strong>A 6-year-old female patient, with painless left submaxillary swelling of 3 weeks evolution. Fever for 1 week (daily peaks up to 38°C), and arthritis (metatarsal joints). Remote history of repeated epistaxis with spontaneous resolution. On hospitalisation, there was evidence of left submaxillary swelling (without local inflammatory signs), ulceration of the jugal mucosa and ecchymosis. During hospitalisation, the patient remained febrile, with arthritis, mainly elbows and knees and malar erythema. Submaxillary swelling increased in size and became painful, without other inflammatory signs. <strong>Diagnosis testing: </strong>Laboratory showed mild anaemia, elevation of inflammatory biomarkers (erythrocyte sedimentation, C-reactive protein, and fibrinogen), blood dyscrasia with decreased prothrombin time and coagulation factor II, and prolonged activated partial thromboplastin time. Occult blood in faeces was positive. Antinuclear antibody (ANA), lupus anticoagulant (aPL) and anticardiolipin IgM were positive. Serum complement C3 and C4 were consumed. During the hospital stay, laboratory results exhibit pancytopenia, hypofibrinogenemia, elevated liver enzymes, elevated acute phase reactants, and hypertriglyceridemia (see table). Ultrasound showed pleural and pericardiac effusion and heterogeneous hypoechogenic structures (9.2 cm<sup>3</sup> and 5.4 cm<sup>3</sup>) in the submaxillary region. Puncture confirmed a haematoma as the cause of the submaxillary swelling. All cultures were negative (blood, urine and punctured haematoma). A bone marrow aspiration was normal. <strong>Differential and Final diagnosis: </strong>Initially the submaxillary swelling was considered as an infectious process with poor response to antibiotic therapy, considering other differential diagnosis. The patient persisted with fever, joint pain, and ecchymosis, leading to the hypothesis of an immunological disorder. Because the persistent dyscrasia and anaemia, a haematological disorder was studied. A diagnosis of juvenile systemic lupus erythematosus (jSLE) with atypical haematological presentation was considered (deficiency of coagulation factor II, lupus anticoagulant [aPL] and macrophage activation syndrome [MAS]). Autoimmune haemolytic anaemia, idiopathic thrombocytopenia, antiphospholipid syndrome, and lymphoproliferative processes were ruled out. The poor clinical response under antibiotic treatment during hospitalisation, forced to consider haematological and immunological causes allowing the final diagnosis of jSLE with MAS. <strong>Discussion of Management: </strong>Coverage with broad-spectrum antibiotics was started, probabilistically covering community germs (cefotaxime in association with clindamycin) and was extended to resistant germs (vancomycin in association with piperacillin tazobactam). When a diagnosis of jSLE is made she received boluses of methylprednisolone, immunoglobulin, and hydroxychloroquine. Due to dyscrasia she received vitamin K, transfusion of fresh frozen plasma and one transfusion of concentrated red blood cells. The patient had a good response and favourable evolution. Haematological manifestations in LES are frequent, the most common are leukopenia, thrombocytopenia and anaemia, it can be manifested by haemorrhages or thrombosis episodes. MAS can develop during disease flare of jLES, and as at this case, clinical onset. <strong>Conclusion: </strong>Atypical haematological manifestation may be the disease onset in jSLE. Epistaxis and blood dyscrasia were the guiding elements for the diagnosis and clinical management of the patient. MAS occurs in jSLE mainly during periods of disease activity as at clinical onset <strong>Disclosures: </strong>None <strong>Table 1. </strong>Laboratory tests on admission, during hospitalisation and at discharge