Childhood lupus emergency presentation: Is early treatment justified: A case series

INTRODUCTION

The diagnosis of systemic lupus erythematosus (SLE) becomes challenging due to the lack of definite pathognomonic features or tests. We have compiled clinical data of four interesting cases of childhood SLE which posed a diagnostic challenge. These cases had variable clinical presentations and a stormy course. The clinical data compiled includes the clinical presentation and diagnostic workup of these cases. This includes one case of unilateral central retinal artery occlusion, a case of autoimmune thrombocytopenia with haemolytic anaemia (Evan’s syndrome), a case of autoimmune haemolytic anaemia (AIHA), and a case of neuropsychiatric systemic lupus erythematosus (NPSLE). These cases posed problems for the diagnosis due to their stormy course and atypical presentation. A rapid treatment plan changed the outcome and prevented the deterioration of all patients. A delay in the diagnosis and urgent treatment would seriously jeopardize the outcome of all these cases.

We applied the European League Against Rheumatism/American College of Rheumatology 2019 criteria for SLE diagnosis with a positive anti-nuclear antibody (ANA) as the entry criterion and other criteria for fulfilling the diagnosis [Figure 1].^[1]

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Figure 1:

Adapted from 2019 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus. SLE: Systemic lupus erythematosus, C3: Complement 3, C4: Complement 4, *: Anti-double-stranded DNA (deoxyribonucleic acid) antibodies.

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CASE SERIES

Case 3

A 10-year-old boy was referred with pain in the digits and feet with peeling of skin over palms over 1 month followed by sudden dimness of vision in the left eye. He also had a fever over 4–5 days which was not attributed to any infective aetiology. His general examination showed hypertension. His left eye fundus showed macular oedema, haemorrhages around the disc, tortuous blood vessels, and cherry red spots [Figure 2]. On investigations, he had anaemia, raised C-reactive protein, and significant proteinuria. His coagulation profile including prothrombin time, activated partial thromboplastin time protein-C activity, protein-S activity, and antithrombin 3 was normal. By keeping the possibility of inflammatory multisystem disease with probable vasculitis, ANA by IF was done and turned positive, with a positive dsDNA antibody, low complement C3 and C4, and a high urinary protein to creatinine ratio. He was put on steroids, antihypertensive drugs, and acetylsalicylate. His kidney biopsy was planned later which showed class 2 nephritis. Cyclophosphamide was started as induction remission. There was a slight improvement in vision in the form of perception of light but his vision could not recover despite the continuation of treatment.

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Figure 2:

Fundus Right eye: Normal, Left eye: tortuous blood vessels, hemorrhages around the disc, macular edema, cherry red spots, optic neuritis with retinitis with sub-foveal serous fluid.

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DISCUSSION

This case study report again highlighted that though AIHA as the initial presentation of underlying SLE is extremely rare,^[2] a high index of suspicion for SLE as the cause is worthy [Table 1].^[3] In both our cases of AIHA, the first was referred to us in cardiac failure with severe anaemia, and cross matching with compatible blood was not possible in view of positive direct agglutination test. This led us to search for the cause and yielded positive ANA and anti-DNA antibodies. The second case was with prolonged bleeding with thrombocytopenia and presented with pulmonary haemorrhage. This guided us to think of vasculitis as the cause. The lupus anticoagulant was negative and negative anti-CL antibodies ruled out antiphospholipid antibody syndrome. This was treated as SLE with severe thrombocytopenia causing pulmonary haemorrhage. A thorough work-up in AIHA will aid in the detection of underlying secondary conditions. The response rate to steroids in AIHA is reported to be around 80%.^[4]

Unilateral branch retinal artery occlusion (BRAO), though as the sole presentation of retinopathy is extremely rare in SLE, the only ophthalmological evaluation will not reveal the cause and other evidence for SLE has to be looked for. The child in our case had other features of SLE in addition to BRAO, such as macular rash, hypertension with proteinuria, and joint symptoms. This confirmed the diagnosis of SLE; the treatment was directed to SLE as a whole in the form of immunotherapy and only optical manoeuvres could not resolve the symptoms even if the main symptoms were in the retina.^[5]

Only 25% of Juvenile-onset systemic lupus erythematosus patients present as NPSLE. The incidence of seizures at the initial presentation is only 25%.^[4,5] With clinical features of NPSLE very variable and non-specific in children, the diagnosis is at times challenging and poses under-recognition and subsequent high rates of complications.^[6,7]

CONCLUSION

These clinical scenarios show a series of difficult, at risk SLE cases with variable presentation posing a difficulty for the clinician to diagnose and manage with limited resources. A high clinical acumen and a high index of suspicion for SLE in these cases underlie the success with the help of an urgent treatment plan pending the investigation results. This study emphasises the need to put lupus high as the differential in such as haematological, neurological, and ophthalmological emergencies presenting to the emergency room.

The idea behind this article is to sensitise the clinicians involved to become aware of the different clinical spectrums with which SLE can present.