Male Systemic Lupus Erythematosus: A Rare Case of Multisystem Involvement

Abstract

Background

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse clinical manifestations. Although SLE predominantly affects women, male patients may present atypically, leading to diagnostic challenges and delays in treatment. Neuropsychiatric involvement and lupus nephritis represent severe manifestations associated with increased morbidity.

Case Presentation

A 31-year-old man presented with fatigue, joint pain, fever, and a photosensitive skin rash. Laboratory investigations showed positive antinuclear antibodies and elevated anti-double-stranded DNA levels. Brain MRI demonstrated scattered T2-weighted and FLAIR hyperintensities suggestive of central nervous system vasculitis, while renal biopsy confirmed class IV lupus nephritis. The patient was treated with corticosteroids, hydroxychloroquine, and mycophenolate mofetil. Follow-up MRI and MRA performed after three weeks showed partial resolution of white matter lesions with stable vasculature. Clinical symptoms improved, and renal function stabilised.

Conclusion

This case highlights the importance of considering neuropsychiatric SLE in male patients presenting with neurological symptoms and multisystem involvement. MRI and MRA can play an important role in detecting central nervous system involvement and monitoring treatment response, while early recognition and prompt treatment may help prevent irreversible neurological complications.

Introduction

Systemic lupus erythematosus (SLE) is a complex, chronic autoimmune disease characterised by an unexplained attack of the immune system on tissues and organs.^1,2 SLE can show many symptoms, including joint pain, fatigue, skin rashes, and more serious issues such as those involving nerves, kidneys, and the cardiovascular system. A butterfly-shaped rash on the cheeks is a characteristic manifestation of this condition, affecting both physical and mental health.³ Despite advancements in medical knowledge, owing to its unusual characteristics and symptoms that overlap with different illnesses, SLE remains one of the most challenging diseases to diagnose.³ Notably, early and accurate diagnosis is crucial in SLE therapy to prevent further decline in organ function and enhance patients’ quality of life and health. Nonetheless, delayed diagnosis frequently results in higher disease severity, increased morbidity, and significant psychological suffering.² Advances in artificial intelligence and medical imaging can address these challenges. Radiography, computed tomography (CT) scans, blood tests, and patient examinations are crucial for assessing organ involvement and formulating treatment plans.⁴

The utilisation of advanced imaging technologies significantly enhances the diagnostic capacity associated with studying neuropsychiatric SLE NPSLE.⁵ Specifically, magnetic resonance angiography (MRA) has been shown to assist in the diagnosis of cerebral vasculitis in patients with SLE. For instance, Liem et al⁶ described a case of a woman with MRA who demonstrated lupus vasculitis through cerebral angiography, confirming that MRA revealed central vascular involvement. Further, a study by Kim et al⁷ focused on the intracranial arteries and presented examples of the effectiveness of MRA in patients with SLE with multifocal steno-occlusive lesions and transient neurological signs that enabled the definition of cerebral lupus vasculitis. Moreover, Huang et al⁸ noted the relationship between the neuropsychiatric symptoms of SLE and its manifestation on magnetic resonance imaging (MRI). Their research demonstrated that patients with NPSLE had higher mortality rates and more frequent lesions in the cerebral cortex than healthy controls, especially within the frontoparietal lobes. Typical MRI findings include white matter hyperintensities and lesions due to inflammation, along with specific mood disorders and acute confusion, which are linked to imaging abnormalities. This study suggests that MRI plays an important role in the detection of focal lesions, increasing our understanding of key NPSLE and its associated brainstem lesions.⁸ Importantly, these cases illustrate the significance of MRA for assessing vascular alterations in neuropsychiatric SLE, ensuring early detection and timely treatment. The simultaneous development of imaging tools and computational resources can significantly aid in the diagnosis and treatment of SLE. Therefore, these developments provide optimism for improving patient outcomes by enhancing our understanding of SLE pathogenesis.

Here, we present a rare case of SLE in a 31-year-old male patient with SLE and emphasise the significance of diagnostic and treatment competencies, highlighting the need for increased awareness among clinicians to identify SLE in atypical populations.

Case Report

Case Presentation

A 31-year-old man was admitted to King Khalid University Hospital with a 3-week history of fatigue, arthralgia, photosensitive skin rash, intermittent fever, and cranial neuropathy manifested by facial nerve palsy. Clinical examination revealed mild synovitis involving the wrists and knees together with a malar rash. Laboratory investigations demonstrated positive antinuclear antibodies, elevated anti-double-stranded DNA titres, and reduced complement levels (C3 and C4). Information regarding cerebrospinal fluid analysis, antiphospholipid antibody profile, and detailed infectious disease workup was not available from the records accessible to the authors.

Differential Diagnosis

Multiplanar multi-sequential MRI of the brain pre- and post-contrast was performed to investigate the underlying cause of the neurological symptoms, revealing scattered hyperintensities on T2-weighted and FLAIR images, suggestive of small-vessel vasculitis (Figure 1). T1-weighted images demonstrated mild enhancement of the bilateral facial nerves (Figure 2). Simultaneous urinalysis revealed proteinuria, and renal biopsy confirmed class IV lupus nephritis. Differential diagnoses included central nervous system infection, antiphospholipid syndrome-related vasculopathy, demyelinating disease, posterior reversible encephalopathy syndrome, and other causes of glomerulonephritis. However, the combination of positive ANA, elevated anti-dsDNA titres, reduced complement levels, characteristic neuroimaging findings, and biopsy-proven lupus nephritis supported the diagnosis of systemic lupus erythematosus with central nervous system involvement.

Figure 1.

(A) Axial T2 FLAIR Fat Sat and (B) Coronal T2-weighted MRI showing multiple scattered foci of old lacunar infarcts (arrows) in the bilateral subcortical white matter, including the centrum semiovale. Given the patient’s history of lupus cerebritis, these findings may be related to cerebrovascular disease or cerebral vasculitis.

Figure 2.

Axial T1 Fat Saturation post-contrast image shows mild enhancement of the bilateral facial nerves (arrows); nonspecific finding.

Treatment was initiated with high-dose corticosteroids, hydroxychloroquine, and mycophenolate mofetil for immunosuppression.

MRI Type

Whole-brain magnetic resonance imaging (MRI) data were acquired using a 3.0 T scanner (Spectra, Siemens) with a 16-channel head coil.

Outcome and Follow Up

Follow-up MRI of the brain, together with systemic MRA performed 3 weeks later, showed partial resolution of the white matter hyperintensities, indicating an early radiological response to treatment and stable vasculature without new abnormalities (Figures 3 and 4). During this period, the patient demonstrated clinical improvement, characterised by a reduction in systemic symptoms and stabilisation of renal function. Follow-up laboratory parameters, including anti-dsDNA titres and complement levels, were not available from the records accessible to the authors.

Figure 3.

(A) Axial and (B) Coronal follow-up T1 FS +C images showing unremarkable vessel wall imaging, unchanged chronic lacunar infarcts, and resolved cranial/facial nerve enhancement.

Figure 4.

Unremarkable intracranial MRA examination follow-up.

Discussion

SLE is a multifaceted autoimmune disease with a diverse range of systemic manifestations that are often challenging to diagnose owing to its heterogeneity. This case highlights the atypical presentation of SLE in a young male with CNS involvement, an uncommon occurrence in this demographic group, as SLE predominantly affects females.³

The neurological manifestations observed in this patient, including scattered T2-weighted and FLAIR hyperintensities in the periventricular and subcortical white matter on MRI (Figures 1 and 2), aligned with small-vessel vasculitis, a recognised but rare complication of SLE. Central nervous system vasculitis, although infrequent, poses a significant diagnostic challenge and often requires advanced imaging modalities for accurate identification. Furthermore, renal involvement, confirmed by renal biopsy showing class IV lupus nephritis, underscores the aggressive nature of SLE in male patients, which is often associated with higher morbidity than that in female patients.⁹ The presence of proteinuria and concurrent findings on MRI (Figures 1 and 2) highlight the systemic nature of the disease and the importance of a multidisciplinary approach to its management.

Therapeutically, the combination of high-dose corticosteroids, hydroxychloroquine, and mycophenolate mofetil reflects a robust strategy aimed at controlling systemic inflammation and immune dysregulation.^10,11 The early response observed on follow-up imaging, with partial resolution of white matter hyperintensities (Figure 3) and stabilisation of renal function, underscores the importance of timely and proactive intervention to achieve favourable outcomes.¹²

This case highlights the critical role of advanced imaging techniques such as MRI and MRA. Early resolution of CNS findings on follow-up imaging (Figures 3 and 4) serves as an objective marker of treatment response and may guide ongoing management strategies.

This report underlines how important it is to keep neuropsychiatric SLE with central nervous system vasculitis in mind when evaluating young male patients who present with neurological symptoms alongside multisystem involvement. In our patient, the characteristic MRI and MRA findings, together with renal biopsy-confirmed class IV lupus nephritis, showed the value of a multidisciplinary approach and advanced imaging in reaching an early diagnosis. The favourable clinical and radiological improvement after immunosuppressive therapy also emphasises the importance of recognising and treating these manifestations promptly to help prevent irreversible neurological complications. Although such presentations are rare, they offer valuable clinical lessons and may help raise awareness of severe SLE manifestations in male patients.

This report has several limitations. As this was a retrospective study, detailed information regarding cerebrospinal fluid analysis, antiphospholipid antibody profile, infectious disease workup, treatment doses, and serial laboratory follow-up parameters, including anti-dsDNA titres and complement levels, was not available from the records accessible to the authors. Nevertheless, the available clinical, serological, neuroimaging, and renal biopsy findings provided sufficient evidence to support the diagnosis and monitor the early response to treatment.

Conclusion

This case underscores the utility of MRI and MRA in detecting and monitoring CNS involvement in SLE and emphasises the need for prompt and aggressive treatment to achieve disease control. The observed imaging improvements and stabilised renal function reflect a favourable early response to treatment. Attention should be paid to the distinct challenges associated with SLE in male patients, warranting further research on sex-specific disease mechanisms and therapeutic responses. This case also highlights the importance of considering neuropsychiatric SLE with CNS vasculitis in young male patients presenting with neurological symptoms and multisystem involvement. Early recognition and the timely use of advanced imaging and immunosuppressive therapy are important to support diagnosis, guide management, and help prevent irreversible neurological complications.

Data Sharing Statement

All data generated or analysed during this study were included. Further enquiries can be directed to the corresponding authors.

Ethical Consideration

Institutional approval for publication of the case details was obtained from the King Saud University Institutional Review Board (IRB) under Research Project No. E-24-9352. And written informed consent for publication was obtained from the patient.

Patient Consent

The patient provided written informed consent for participation and publication of this case report, including all medical details and images.

Author Contributions

All authors made a significant contribution to the work reported, whether that is in the conception, study design, execution, acquisition of data, analysis and interpretation, or in all these areas; took part in drafting, revising or critically reviewing the article; gave final approval of the version to be published; have agreed on the journal to which the article has been submitted; and agree to be accountable for all aspects of the work.

Disclosure

There are no potential conflicts of interest to disclose.