Early-onset stroke and iron-deficiency anaemia in young siblings
Rheumatology key messagesDADA2 has a highly variable phenotype and may present without overt evidence of vascular inflammation.Young-onset stroke and haematological abnormalities, especially in the presence of consanguinity, should alert the clinician to possible DADA2.Anti-TNF therapy has been shown to be effective for preventing ischaemic episodes, while HSCT remains an option for those who fail to respond to anti-TNF therapy. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Pregnancy following rituximab for orbital eosinophilic angiocentric fibrosis
Rheumatology key messagesOrbital vasculitides may present with negative serology and biopsy is often key to diagnosis.Remission of orbital eosinophilic angiocentric fibrosis (EAF) can be induced with glucocorticoids, rituximab and methotrexate, with rituximab and azathioprine for remission maintenance.Inflammation associated with endometriosis may improve with immunosuppressive therapies including B-cell depletion, improving fertility. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Deciphering neurological symptoms in ANCA-associated vasculitis, uncontrolled disease or a complication of therapy
Rheumatology key messagesWithdrawing and withholding further immunosuppression in AAV patients with PML can result in a better- than-expected outcome.Mirtazipine can be considered to facilitate PML control.PML can occur after rituximab (and other immunosuppressants) in AAV patients but may be less common than in SLE patients treated with rituximab. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Eosinophilic granulomatosis with polyangiitis present and future
Rheumatology key messagesThere is now a scientific rationale for biologic therapies based on our understanding of the pathogenesis of EGPA. Anti-IL5 therapy is improving outcomes in refractory and relapsing EGPA as evidenced by data with mepolizumab from the MIRRA trial.Rituximab has demonstrated efficacy in retrospective studies for relapsing and refractory disease and may be more effective in the ANCA-positive EGPA subgroup.Cyclophosphamide and GC therapy remain the therapy of choice for life or organ-threatening disease. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Diffuse crescentic glomerulonephritis presenting with preserved renal function
Rheumatology key messagesEarly and regular urinalysis is essential in patients with AAV.Kidney biopsy, even in the presence of preserved eGFR and low-level urinary abnormalities, provides important information relating to diagnosis, disease severity and long-term prognosis.Early detection and treatment of GN improves long-term kidney and patient survival. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Fever on an airline flight: a diagnostic challenge
Rheumatology key messagesAtypical vasculitis presentations are common and require through multidisciplinary investigation to exclude or diagnose coexisting infection and malignancy.Tissue biopsy remains the gold standard for vasculitis diagnosis, and in cases with diagnostic uncertainty, renal biopsy can be helpful despite minimally active urine sediment.Immunosuppression for vasculitis is usually required along with treatment for any underlying cause and should not be delayed in the presence of organ-threatening disease. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Cardiac decompensation revealing giant cell arteritis
Rheumatology key messagesClinical features of LV-GCA include fever of unknown origin, limb claudication, aortic regurgitation murmur, vascular bruits, pulse discrepancy and (refractory) PMR.Signs of co-existing cGCA should be sought on examination.Dedicated vascular imaging (CT/MR/PET-CT/US) is required to assess for extracranial involvement in patients with suspected LV-GCA. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
IgG4-related disease: not just a matter of IgG4
Rheumatology key messagesIgG4-RD causes fibro-inflammatory lesions that mimic malignancy, histiocytic disorders and autoimmune conditions.Diagnosis relies on compatible clinico-pathological findings while some patients lack high serum and tissue IgG4.IgG4-related and –unrelated cases have similar features, including comparable sensitivity to glucocorticoids and rituximab. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
A critical beat in eosinophilic granulomatosis with polyangiitis
Rheumatology key messagesThere are two distinct clinical phenotypes stratified by ANCA serology and underpinned by distinct genetic subtypes. EGPA share a number of common genes, while ANCA+ disease is associated with MHCII.The ANCA+ cohort are enriched for vasculitis manifestations, and in retrospective studies appear more responsive to rituximab (versus ANCA– cohort).The ANCA– cohort are associated with eosinophilic manifestations including cardiomyopathy, which carries a poor prognosis. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Refractory ANCA-associated vasculitis
Rheumatology key messagesEarly induction of remission at presentation and during subsequent flare is paramount to minimise damage accrual.Cardiac involvement is associated with poor outcomes and aggressive treatment is necessary.Combination of cyclophosphamide and rituximab may be needed in certain patients to bring the disease under control. Plasma exchange and/or IVIG may be added as adjunctive therapies. (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Introduction to the European Vasculitis Society 3rd International Vasculitis Course (Cambridge) case-based supplement
(Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Iliac artery aneurysm in Beh çet’s syndrome: collaborative management is essential
Rheumatology Key MessageIn vascular Beh çet’s syndrome, interventional radiology/vascular surgery procedures should not be performed during active disease except where there is an immediate threat to life or limb (bleeding, compression etc.). (Source: Rheumatology)
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
Ear, nose, throat and airways disease in granulomatosis with polyangiitis
Rheumatology key messagesENT disease is common in GPA (70 –99% cases).ENT features, such as nasal pain, worsening nasal crusting, epistaxis/bloody rhinorrhoea, stridor or sudden hearing loss, are associated with vasculitic disease activity, particularly with onset in the past 4 weeks.Rigid nasendoscopic examination is sensitive for the detection of mucosal inflammation, ulceration, granulation or friable mucosa, which indicate active GPA.Flexible nasendoscopic examination is not reliable for evaluating the subglottis and is unable to visualize the distal respiratory tract, where distal airway stenoses often coexist.Su...
Source: Rheumatology - June 16, 2021 Category: Rheumatology Source Type: research
A pitfall in diagnosing psoriatic arthritis resolved by ultrasound: acrodermatitis continua suppurativa of Hallopeau
Rheumatology key messageAcrodermatitis continua suppurativa of Hallopeau may be misdiagnosed as PsA. (Source: Rheumatology)
Source: Rheumatology - June 15, 2021 Category: Rheumatology Source Type: research
Extensive soft tissue xanthomatosis masquerading as tophaceous gout in a normolipidemic man
We present here an unusual case of extensive chronic polyarticular xanthomatous disease masquerading as chronic tophaceous gout. (Source: Rheumatology)
Source: Rheumatology - June 7, 2021 Category: Rheumatology Source Type: research
