Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohort

Objectives Systemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population. We conducted the first Australian longitudinal review of childhood SLE, focussing on response to treatment and outcomes. Methods Detailed clinical and laboratory data of 42 children diagnosed with SLE before 16 years from 1998 to 2018 resident in Western Australia was collected. Data was collected at diagnosis and key clinical review time points and compared using the Systemic Lupus Collaborating Clinics (SLICC) and Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) criteria. End organ damage was assessed against Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI). Incidence rates of disease complications and end organ damage were determined. Results Of the 42 children, 88% were female with average age at diagnosis of 12.5 years. Indigenous Australians were over represented with an incidence rate 18-fold higher than non-Indigenous, although most children were Caucasian, reflecting the demographics of the Australian population. Median duration of follow-up was 4.25 years. On final review, 28.6% had developed cumulative organ damage as described by the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (incidence rate: 0.08/PY (95% CI 0.04–0.14)), and one child died. Twenty-nine children had renal involvement (incidence rate: 0.38/PY (95% CI 0.26–0.56)). Of the 27 patients with biopsy proven lupus nephritis, 70% had Class III or IV disease. Average length of prednisolone use from diagnosis was 32.5 months. Hydroxychloroquine ( n = 36) and mycophenolate mofetil ( n =21) were the most widely used steroid sparing agents. 61.9% received rituximab and/or cyclophosphamide. Conclusion This is the first longitudinal retrospective review of Australian children with SLE, with a markedly higher incidence in Indigenous children. Although improving, rates of end organ complications remain high, similar to international cohort outcomes. Longitudinal multi-centre research is crucial to elucidate risk factors for poor outcomes, and identifying those warranting early more aggressive therapy.

Liver Steatosis: Better Predictor of CKD in MAFLD Than Liver Fibrosis as Determined by Transient Elastography With Controlled Attenuation Parameter

Background: Changing the term/concept of the non-alcoholic fatty liver disease (NAFLD) to metabolic dysfunction associated fatty liver disease (MAFLD) may broaden the pathological definition that can include chronic renal involvement, and, possibly, changes chronic kidney disease's (CKD's) epidemiological association with liver disease, because CKD is associated with metabolic disorders and almost all patients with CKD present some form of an atherogenic dyslipidemia. Our study explores the relationship between MAFLD and CKD using Transient Elastography (TE) with a Controlled Attenuated Parameter (CAP).Methods: We evaluated 335 patients with diabetes with MAFLD and with high CKD risk using TE with CAP (FibroScan®). The CKD was defined according to Kidney Disease Improving Global Outcomes (KDIGO) 2012 guidelines. Logistic regression and stepwise multiple logistic regression were used to evaluate the factors associated with CKD. In addition, a receiver operating characteristic curve (ROC) analysis was used to assess the performance of CAP and TE in predicting CKD and its optimal threshold.Results: The prevalence of CKD in our group was 60.8%. Patients with CKD had higher mean liver stiffness measurements (LSM) and CAP values than those without CKD. We found that hepatic steatosis was a better predictor of CKD than fibrosis. Univariate regression showed that CAP values >353 dB/m were predictive of CKD; while the multivariate regression analysis (after adjustment according to sex, body mass index (BMI), low-density lipoprotein cholesterol (LDLc), and high-density lipoprotein cholesterol (HDLc), and fasting glucose) showed that CAP values >353 dB/m were more strongly associated with the presence of CKD compared to the LSM (fibrosis) values.Conclusion: In patients with MAFLD, CAP-assessed steatosis appears to be a better predictor of CKD compared to LSM-assessed hepatic fibrosis.

Systemic lupus erythematosus in a male patient in lower Assam

Systemic lupus erythematosus (SLE) is one of the numerous diseases called “the great imitators” because it frequently resembles or is misdiagnosed as other illnesses. SLE is a chronic autoimmune inflammatory disorder that affects multiple systems and has a wide range of symptoms. The female to male ratio varies between 7 and 15 to 1. A number of observations point to an estrogen impact as the cause of this variance. Because sex hormonal impacts are likely to be modest in youngsters, the female to male ratio is 3:1. Renal involvement and seizures are more common in male SLE patients than photophobia and cutaneous symptoms. Males likewise appear to have a more devastating consequence. As a result, we feel that male lupus patients are uncommon, the illness’s symptoms are life-threatening, and that early discovery of the disease will result in a better outcome for these patients. Here, we report the case of SLE with an unusual presentation in a 44-year-old man from lower Assam to emphasize the importance of a high index of suspicion in such patients.

To and TAFRO – a cryptic cause of acute renal failure: a case report

Background TAFRO syndrome is a rare clinical subtype of idiopathic multicentric Castlemans disease characterised by thrombocytopenia, anasarca, myelofibrosis, renal dysfunction, and organomegaly. Renal involvement is common, sometimes requiring temporary renal replacement therapy. Due to the associated thrombocytopenia, renal biopsies are rarely performed limiting descriptions of the renal histopathology in this condition. This case describes a patient with TAFRO syndrome and the associated renal histology. Case presentation A 49-year-old Caucasian man presented to a tertiary hospital in Sydney with a six- week history of malaise, non-bloody diarrhoea, progressive shortness of breath, and drenching night sweats. A progressive bicytopenia and renal function decline necessitating temporary dialysis prompted a bone marrow aspirate and trephine, as well as a renal biopsy respectively. This noted a hypercellular bone marrow with increased granulopoiesis, reduced erythropoiesis, and fibrosis, with renal histology suggesting a thrombotic microangiopathic-like glomerulopathy. Alternate conditions were excluded, and a diagnosis of TAFRO syndrome was made. Glucocorticoids and rituximab were initiated with rapid renal recovery, and normalisation of his haematologic parameters achieved at six months. Conclusion This case describes an atypical thrombotic microangiopathy as the predominant histologic renal lesion in a patient with TAFRO syndrome. This was responsive to immunosuppression with glucocorticoids and rituximab, highlighting the importance of early recognition of this rarely described condition.

From membranoproliferative glomerulonephritis to a final diagnosis: Hypocomplementemic urticarial vasculitis syndrome

Membranoproliferative glomerulonephritis describes a glomerular-injury pattern common to a heterogeneous group of diseases. Evaluation based on clinical and laboratory presentation and immunofluorescence staining on kidney biopsy allows identification of underlying pathophysiological processes and may facilitate proper diagnosis and treatment. Hypocomplementemic urticarial vasculitis syndrome is a rare autoimmune disease of multi-organ involvement. The diagnosis is based on well-defined clinical and laboratory criteria. The pathophysiology is not completely understood but the presence of anti-C1q antibody seems to be involved. Renal involvement occurs in up to 50% of cases. It can be heterogeneous and can be indistinguishable from lupus nephritis. Serological findings and skin involvement distinguish these two entities. We report the case of a 40-year-old female who presented with urticarial skin lesions, hypocomplementemia and nephrotic syndrome. Kidney biopsy showed membranoproliferative glomerulonephritis with full house immune complex deposits. The diagnosis of hypocomplementemic urticarial vasculitis syndrome was made and the patient was successfully treated with prednisolone and mycophenolate mofetil.

A case of vasculitis triggered by infective endocarditis in a patient undergoing maintenance hemodialysis: a case report

Background Immunoglobulin A vasculitis (IgA vasculitis) is one of the most common forms of vasculitis in children. It rarely occurs in adults. It is a systemic vasculitis with IgA deposition and is characterized by the classical tetrad of purpura, arthritis/arthralgia, gastrointestinal and renal involvement. Certain types of infections, and pharmacological agents have been reported to be associated with IgA vasculitis. Here, we describe a case of IgA vasculitis triggered by infective endocarditis in a patient undergoing maintenance hemodialysis. Case presentation A 70-year-old man undergoing hemodialysis was admitted because of skin purpura, abdominal pain, diarrhea, and lower back pain. We suspected him as IgA vasculitis based on the clinical features and skin biopsy findings. Transesophageal echocardiography revealed infective endocarditis, which predisposed him to IgA vasculitis. He was treated with antibiotics and low-dose corticosteroids, which led to resolution of vasculitis. Conclusions This is the first case of IgA vasculitis triggered by infective endocarditis in a patient undergoing hemodialysis. Patients undergoing hemodialysis are at a high risk of infection because of immune dysfunction and frequent venipuncture. The incidence of infective endocarditis associated with IgA vasculitis is very low, but it has been repeatedly reported. Therefore, it is necessary to consider infective endocarditis in patients with clinical features that indicate IgA vasculitis.

Variable presentations of systemic lupus erythematosus based on presence or absence of antidouble stranded DNA antibodies: A case series

Systemic lupus erythematosus (SLE) presents with diverse clinical features causing diagnostic challenges. Apart from the clinical features, autoantibodies are important for diagnosis along with certain laboratory parameters. Diagnosis is made with the European League against Rheumatism/American College of Rheumatology 2019 Criteria. The case series presented here signifies the correlation between anti ds DNA positivity and its association with poor prognosis and renal disease, whereas antidouble stranded DNA (anti-dsDNA) negativity may lead to lack of renal involvement and may be associated with polyserositis. The importance lies in the fact that these patients with anti-dsDNA negativity should be followed up for assessing conversion to positivity of anti-dsDNA, thus altering the prognosis and leading to renal involvement. Moreover, anti-SSA positive SLE patients must be followed up for possible development of sicca symptoms.

IgE multiple myeloma: detection and follow-up

Objectives We report a new case of immunoglobulin E multiple myeloma (IgE), a very rare isotype that accounts for <0.1% of cases of this monoclonal gammopathy. To ensure the adequate detection, quantification and identification of the monoclonal component, it is crucial that protein assays are performed. We provide some clues related to clinical laboratory results, which will facilitate an adequate management of the disease. Case presentation A 45-year-old patient with a five-week history of pain at the level of the elbow, who was diagnosed with IgE-Kappa multiple myeloma based on laboratory, radiological, and bone marrow findings. The patient received induction chemotherapy prior to hematopoietic stem-cell transplantation and is currently on follow-up. Conclusions Protein assays performed in the clinical laboratory, including protein electrophoresis and immunofixation, allowed for the detection of an IgE-Kappa monoclonal component prior to the appearance of the typical CRAB symptoms (hypercalcemia, renal involvement, anemia, and bone pain) of multiple myeloma (MM). The detection of IgE-Kappa facilitated early diagnosis and management.

Cutaneous manifestations of systemic lupus erythematosus: experience from a tertiary care hospital of Bangladesh

Background: Systemic lupus erythematosus (SLE) is a chronic, multisystem disorder that can affect any organ of the body. Approximately 80 percent of patients develop skin disease at some point in their disease course. The association with SLE varies among the subtypes of cutaneous lupus erythematosus (LE). Better understanding of cutaneous manifestations can help in more effective management. This study aimed to evaluate the pattern of cutaneous manifestations of SLE and to find out association with organ involvement. Methods: This cross-sectional observational study was conducted in the Green Life Medical College Hospital from January 2019 to December 2020. Sixty four lupus patients who fulfilled the SLICC 2012 classification criteria and having new onset or preexisting skin complaints were enrolled. Mixed connective tissue disease and other overlap syndromes were excluded. All patients were evaluated by a dermatologist and diagnosis was done as per modified Gilliam Classification criteria. Results: Out of 64 patients, 56 were female and 8 were male. Female and male ratio was 7:1. Mean age was 28.4±9.6 years. Among the cutaneous manifestations, LE specific was 38 (59.4%), LE non-specific was 41 (64.1%). Among LE specific, 66% were acute (ACLE), 42% were sub-acute (SCLE) and 37% patients were chronic (CCLE). Among ACLE, 72% had malar rash and 84% had photosensitivity. Among SCLE, most common was papulosqumous (68%). DLE (86%) was the most common CCLE. Among LE non-specific, 85% had non-scarring alopecia, 52% had vascular abnormalities. Most common organ involvement was musculoskeletal (84%), then renal (56%). DLE had negative association with renal involvement [OR (-0.04)]. No other cutaneous manifestations showed any significant association with any other organ involvement. Conclusion: Cutaneous manifestations are important feature in SLE. LE non-specific was more common than LE specific manifestations in this study. Better understanding can help in efficient diagnosis and management. BIRDEM Med J 2022; 12(1): 57-61