INTRODUCTION

The autoimmune rheumaticdiseases e an introductionRuth Tarzi

Ian Giles

Abstract

The autoimmune rheumatic diseases (ARDs) form a heterogeneous

group of disorders characterized by dysregulation of the immune sys-

tem leading to autoimmune tissue injury. These conditions present chal-

lenges both in terms of diagnosis and management. However, a better

understanding of pathogenesis, newer diagnostic markers and the

availability of targeted biological treatments have improved the outlook

for patients. Moving forwards, the importance of disease registries and

rare disease groups, bringing together specialists to study these condi-

tions and organize multi-centre trials, has been recognized. As most of

these conditions are chronic, management of general health, including

cardiovascular risk factors is also an important aspect of management.

We are delighted to introduce 12 complementary articles written by

opinion leaders in these conditions covering the diverse spectrum of

ARDs that physicians are likely to encounter in routine practice, with

practical guidance on diagnosis and management as well as mention

of exciting new developments.

Keywords Autoimmune rheumatic diseases; biologic therapy; diagnosis;

editorial; imaging; introduction; registries

We are beginning to understand more about the pathogenesis

of ARDs. The evidence for the pathogenicity of anti-neutrophil

cytoplasmic antibody (ANCA) in small vessel vasculitis is dis-

cussed by Dr Ruth Tarzi and Professor Lorraine Harper. Results

of genome-wide association studies in systemic lupus erythe-

matosus (SLE) and ANCA vasculitis are discussed. Professor

Dorian Haskard discusses the results of a recent genome-wide

association study in Behc‚et’s syndrome, showing linkage to a

number of polymorphisms in genes related to the inflammatory

response including interleukin-10.

Dr Rachel Jones and Professor Caroline Savage describe the

new classification of the vasculitides arising from the 2012

Chapel Hill conference. The classification is still based on the

size of the vessel involved, but eponymous syndromes have

begun to be replaced by pathological descriptive terms, and the

small vessel vasculitides have been divided into pauci-immune

vasculitides and immune complex vasculitides. New classifi-

cation criteria have also been developed in other ARDs and

alternative criteria for Sj€ogren’s syndrome (SS) proposed by

the Sj€ogren’s International Collaborative Clinical Alliance

Ruth Tarzi PhD FRCP is a Senior Lecturer and Honorary Consultant in

Nephrology, Department of Medicine, Imperial College London, UK.

Competing interests: none declared.

Ian Giles PhD MRCP is a Reader/Honorary Consultant in Rheumatology at

University College London, London, UK. Competing interests: none

declared.

MEDICINE 42:3 119

Group are described by Professor Simon Bowman and Dr Vijay

Rao, who explain why the existing AmericaneEuropean

Consensus Group classification criteria continues to be the key

diagnostic tool for primary SS. Professor David Isenberg and Dr

Sofia Dias outline international efforts to revise classification

criteria for SLE and produce reliable and reproducible disease

activity indices; these are vital to the accurate capture of al-

terations in disease activity in a wealth of clinical trials of

novel therapies currently underway in this complex multi-

system disease.

The identification of autoantibodies in diagnosis provides

important supportive diagnostic evidence, when used in the

correct clinical context. Dr Richard Watts provides an overview

of the role of autoantibodies in the diagnosis of autoimmune

rheumatic diseases. Drs Deepa Arachchillage and Hannah Cohen

note that antibodies directed against domain I of b2-GPI appear

to be more strongly associated with thrombosis than antibodies

directed against other domains of b2-GPI in patients with the

antiphospholipid syndrome (APS), and that novel assays to

specifically detect these anti-domain I antibodies are in devel-

opment. In the chapter on inflammatory myopathies, Dr Ruth

Davies and Professor Ernest Choy discuss the emerging data

suggesting that the autoantibody status of patients with myositis

can define phenotypes, and also predict organ involvement and

treatment response.

Recognition of the importance of collaborative research

networks has lead to the formation of several research regis-

tries. In particular, the United Kingdom Primary SS Registry

(UKPSSR), the international AntiPhospholipid Syndrome Alli-

ance For Clinical Trials and InternatiOnal Networking (APS

ACTION) and the UK and Ireland Vasculitis Susceptibility and

Outcomes Registry (UKIVAS). These registries are designed to

promote basic science and clinical research in these respective

ARDs.

Ongoing trials of non-invasive ultrasound imaging in diag-

nosis, compared to the traditional temporal artery biopsy in

giant cell arteritis, are discussed by Drs Tahir Hasmi, Caroline

Cardy and David Carruthers, in the chapter on large

vessel vasculitis. Similarly, salivary gland ultrasound is

increasingly used in diagnosis and management of SS, while

magnetic resonance angiography is becoming an important

non-invasive means to monitor for progression of Takayasu’s

arteritis.

Management of the organ-based complications of scleroderma

has improved the prognosis of this condition. Dr Emma Derrett-

Smith and Professor Christopher Denton discuss how renin-

angiotensin blockade in scleroderma has reduced the incidence

of scleroderma renal crisis, and that cyclophosphamide has been

shown to have efficacy in scleroderma-associated fibrosing

alveolitis, New therapies with prostacyclin analogues, endothelin

receptor antagonists and phosphodiesterase type 5 inhibitors are

showing benefit in patients with pulmonary hypertension. Dr

Peter Hewins discusses the importance of early diagnosis and

treatment of Kawasaki’s disease to prevent long-term cardio-

vascular complications.

The emergence of biologic therapies has provided a unique

opportunity to broaden the options for immunosuppression in

ARDs, as well as providing an opportunity better to understand

the pathogenesis of these diseases. Dr Maria Mouyis and

� 2014 Published by Elsevier Ltd.

INTRODUCTION

Professor David Isenberg provide an overview of the pathways,

receptors and cell types currently being targeted by biologic

agents in use for ARDs. The evidence from randomized

controlled clinical trials supporting the use of rituximab in

ANCA-associated vasculitis, and belimumab in SLE are discussed

MEDICINE 42:3 120

in the respective articles. It is hoped that biological agents will be

able to meet some of the unmet need in the management of

conditions such as SS, scleroderma, Behc‚et’s syndrome and in-

flammatory myopathies. A

� 2014 Published by Elsevier Ltd.