Sally Cox

Isolated pulmonary hypertension in scleroderma

Background: Isolated pulmonary hypertension (PHT) is now the most frequent cause of disease‐related death in limited cutaneous scleroderma, the commonest disease variant of this disabling connective tissue disorder. Endothelin‐1 receptor antagonists provide symptomatic benefit but to date have not been shown to prolong survival.

Clinical heterogeneity and prognostic features of South Australian patients with anti‐synthetase autoantibodies

Aim:  To determine the clinical, serological and prognostic features of patients with autoantibodies against three aminoacyl‐transfer RNA synthetases (ARS), namely Jo‐1 (histidyl‐tRNA synthetase), PL‐7 (threonyl‐tRNA synthetase) and PL‐12 (alanyl‐tRNA synthetase) in South Australia.

Diagnostic utility of anti-Ro52 detection in systemic autoimmunity

Objectives To determine the prevalence and diagnostic utility of monospecific anti-Ro52 (defined as an immune response against Ro-52 antigen in the absence of reactivity to Ro-60 antigen) reactivity in selected autoimmune diseases. Study design Stored diagnostic non-consecutive serum samples obtained from patients with systemic lupus erythematosus (SLE), primary Sjögrens syndrome (pSS), systemic sclerosis, idiopathic inflammatory myopathies (IIM), rheumatoid arthritis, primary biliary cirrhosis and mixed essential cryoglobulinaemia were analysed by line immunoassay to detect the presence of anti-Ro52 and other autoantibodies. Results Monospecific anti-Ro52 reactivity was found in 51 (12.7%) of the 402 samples tested. Anti-Ro52 was the most common serological marker in patients with IIM (35/147, 23.8%) and co-occurred with anti-Jo1 (10/18, 55.6%; p=0.02). The prevalence of anti-Ro52 reactivity was significantly more than anti-Ro60 reactivity in patients with IIM, systemic sclerosis, primary biliary cirrhosis, mixed essential cryoglobulinemia and pSS. The mean signal intensity of anti-Ro52 reactivity was significantly higher in pSS than SLE and associated with rheumatoid factor positivity. The mean signal intensity of anti-Ro52 correlated with anti-Ro60 and anti-La in pSS and SLE. Conclusions Monospecific anti-Ro52 reactivity is not disease specific but may be of importance in patients with IIM. Furthermore, as anti-Ro52 reactivity is more prevalent than anti-Ro60 reactivity in certain autoimmune conditions, specific testing for their distinction in clinical practice is recommended.

Incidence and prevalence of idiopathic inflammatory myopathies in South Australia: a 30-year epidemiologic study of histology-proven cases

Aim:  To describe the epidemiology of biopsy‐proven idiopathic inflammatory myopathies (IIM) in South Australia (SA).

A randomised controlled trial of etanercept and methotrexate to induce remission in early inflammatory arthritis: the EMPIRE trial

Objective To compare the efficacy of etanercept (ETN) and methotrexate (MTX) versus MTX monotherapy for remission induction in patients with early inflammatory arthritis. Methods In a 78-week multicentre randomised placebo-controlled superiority trial, 110 DMARD-naïve patients with early clinical synovitis (≥1 tender and swollen joint, and within 3 months of diagnosis) and either rheumatoid factor, anticitrullinated protein antibodies or shared epitope positive were randomised 1:1 to receive MTX+ETN or MTX+placebo (PBO) for 52 weeks. Injections (ETN or PBO) were stopped in all patients at week 52. In those with no tender or swollen joints (NTSJ) for >26 weeks, injections were stopped early. If patients had NTSJ >12 weeks after stopping the injections, MTX was weaned. The primary endpoint was NTSJ at week 52. Results No statistically significant difference was seen for the primary endpoint (NTSJ at week 52 (32.5% vs 28.1% [adjusted OR 1.32 (0.56 to 3.09), p=0.522]) in the MTX+ETN and MTX+PBO groups, respectively). The secondary endpoints did not differ between groups at week 52 or 78. Exploratory analyses showed a higher proportions of patients with DAS28-CRP<2.6 in the MTX+ETN group at week 2 (38.5% vs 9.2%, adjusted OR 8.87 (2.53 to 31.17), p=0.001) and week 12 (65.1% vs 43.8%, adjusted OR 2.49 (1.12 to 5.54), p=0.026). Conclusions In this group of patients with early inflammatory arthritis, almost a third had no tender, swollen joints after 1 year. MTX+ETN was not superior to MTX monotherapy in achieving this outcome. Clinical responses, however, including DAS28-CRP<2.6, were achieved earlier with MTX+ETN combination therapy. Trial registration number The EMPIRE trial is registered on the following trial registries: Eudract-2005-005467-29; ISRCTN 55428162 (http://www.controlled-trials.com/ISRCTN55428162/EMPIRE). The full trial protocol can be obtained from the corresponding author.

Antinuclear antibody testing in a regional immunopathology laboratory

A systematic review has been undertaken of antinuclear antibody testing over a 6‐year period in a regional immunotherapy laboratory servicing a population of 400 000. Twenty‐eight per cent of the 20 205 antinuclear antibody tests performed on a hyperexpressing Ro transfected cellular substrate were positive (titre ≥ 1 : 80) with the most common immunofluorescent patterns being homogeneous (39%), speckled (20%), mixed (17%), nucleolar (8%), Ro (7%) and centromere (4%). Ro antibody as detected by immunofluorescence was strongly concordant with anti‐Ro detected by counter immunoelectrophoresis precipitation; of 261 anti‐Ro counter immunoelectrophoresis precipitation positive patients surveyed, only 15 were missed and 20 masked (with homogenous pattern) by immunofluorescence. Ro antibodies were found in patients with a variety of immune disorders, particularly connective tissue disorders, whilst a clinical survey of the anticentromere sera revealed that 67% were derived from patients with limited scleroderma. Extractable nuclear antibodies and their characterization was performed on 10 939 occasions with 12.9% being positive with anti‐Ro constituting 30.2%, anti‐Ro/La 25.7%, unidentified precipitin line 17.8%, anti‐ribo nuclear protein 12.5%, respectively, with anti‐Scl70, anti‐Jo‐1 and anti‐Sm and various combinations making up the remainder. Unidentified precipitin lines were particular prominent in patients with connective tissue disorders. DNA quantification was performed on 12 068 occasions with 11% giving elevated values, the majority from patients with systemic lupus erythematosus. Of these positive sera 44% also demonstrated one or more extractable nuclear antibodies and 25% anticardiolipin antibodies. Regular participation in a Quality Assurance Program revealed accurate and consistent performance of antinuclear antibody testing. In conclusion antinuclear antibody detection and characterization for systemic immune disorders can provide the clinician with useful diagnostic and prognostic information; it is important that the laboratory results are relevant, timely, accurate and precise. Systematic reviews as demonstrated in this report, can provide such evidence.

Adaptation of the RAQoL for use in Australia

Quality of life is an important patient-reported outcome of rheumatoid arthritis (RA) in addition to structural and functional outcomes. The RAQoL (Rheumatoid Arthritis Quality of Life questionnaire) was developed in the UK and the Netherlands as a disease-specific tool. It was adapted for use in the Australian social context and the reliability and validity was tested. A lay panel assessed the UK version and adapted the wording for use within Australia. Reliability and validity were assessed by a postal survey of the RAQoL and comparator questionnaires to 100 patients with RA. The RAQoL was easily adapted into Australian-English. Test–retest reliability was high with a Spearman rank correlation coefficient of 0.93. RAQoL scores correlated well with patient-perceived disease activity and severity—indicating good validity. The Australian version of the RAQoL is a valid and reliable tool for the assessment of quality of life. It is practical, easy to administer and has good potential for use in clinical settings and trials in Australia.

Monozygotic twins with distinct forms of idiopathic inflammatory myositis

© The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.