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Visual Guide for Clinicians

SYSTEMIC LUPUSERYTHEMATOSUSAn instructive, highly-illustrated guide to theinvestigation, diagnosis and management ofsystemic lupus erythematosus (SLE) and therelated condition of Sjö grenʼs syndrome. Appropriate investigations are critical to making thecorrect diagnosis of SLE so that treatment can betailored to the patientʼs condition. Multidisciplinarycare is important and should involve the full rangeof allied health professionals, as well as the relevantclinical specialists depending on the organs andsystems involved. This concise visual guide willprovides all members of the clinical team with apractical up to date reference to assist diagnosisand treatment.

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www.clinicalpublishing.co.uk


SYSTEMIC LUPUSERYTHEMATOSUSC GordonW L Gross

CLINICAL PUBLISHING

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CLINICAL PUBLISHINGOXFORD


SYSTEMIC LUPUSERYTHEMATOSUS

Caroline Gordon, MD FRCPProfessor and Consultant in Rheumatology

School of Immunity and InfectionCollege of Medical and Dental Sciences

The Medical School, University of BirminghamBirmingham, UK

Wolfgang L Gross, MD PhDMedical Director & ChairmanDepartment of Rheumatology

University of Luebeck & Clinic for Rheumatology, Bad BramstedtLuebeck, Germany

SLE Visual Guide:A4 Visual Guide 28/9/11 08:43 Page iii

Clinical Publishing

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© Atlas Medical Publishing Ltd 2012

This edition first published in 2012

Content first published in 2011 by Clinical Publishing, Oxford as part of:

C Gordon, WL Gross, Connective Tissue Diseases: an Atlas of Investigation and Management (1st ed)

Available under ISBN 978 1 84692 074 5 (book) and 978 1 84692 634 1 (e book)

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ISBN-13 978 1 84692 100 1

e-ISBN 978 1 84692 643 3

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Readers must therefore always check the product information and clinical procedures with the most

up-to-date published product information and data sheets provided by the manufacturers and the most

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liability for any errors in the text or for the misuse or misapplication of material in this work.

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Printed by Marston Book Services Ltd, Abingdon, Oxon, UK

SLE Visual Guide:A4 Visual Guide 28/9/11 08:43 Page iv

Preface vi

Editors and contributors vii

Abbreviations viii

1 General approach to the assessment of patients with a suspected connective tissue disease 1ARIANE L HERRICK

Introduction 1History-taking and the assessment of symptoms 2Examination for signs of connective tissue disease 6Investigations in a patient with suspected connective tissue disease 12Conclusions 16Further reading 16

2 Systemic lupus erythematosus 17CAROLINE GORDON, JULIA U HOLLE, WOLFGANG L GROSS

Definition and pathology 17Epidemiology 17Presentation of systemic lupus 20Diagnosis and differential diagnosis 37Monitoring disease activity and distinguishing damage 38Principles of management of systemic lupus erythematosus 40Further reading 42

3 Sjögren’s syndrome 43IONA MERYON, JULIA U HOLLE, WOLFGANG L GROSS, CAROLINE GORDON

Definition, pathology, and epidemiology 43Clinical manifestations and assessment of Sjögren’s syndrome 43Classification 49Diagnosis and differential diagnosis 49Management of Sjögren’s syndrome 51Summary 52Further reading 52

Index 53

Contents

SLE Visual Guide:A4 Visual Guide 28/9/11 08:43 Page v

vi

Preface

Patients that present with a connective tissue disease areoften a challenge to diagnose and treat. A connective tissuedisease is a disorder in which the tissues of the bodyconsisting of the cells and the matrix which holds themtogether are disrupted. This guide will describe several multi-system conditions that result from the inflammatory andimmune-mediated disorder systemic lupus erythematosusand the related condition of Sjögren’s syndrome. Thesediseases affect various tissues of the body; details of theirmanagement are discussed within, including presentation,investigation, differential diagnosis, and treatment. Thesediseases are multifactorial conditions associated with acomplex genetic predisposition and various, not well-understood, environmental triggers that induce inflam -matory and immune-mediated responses directed againstcomponents of the person’s own body. As a result thesediseases fall under the umbrella term known as the systemicautoimmune diseases. Patients with a systemic autoimmuneconnective tissue disease can present with clinical symptomsand signs in one or more often, several, systems of the body.Some of these diseases affect people of certain ages andgender more often than others, including children, but thisguide will focus on the management of adult patients. Thesediseases are more common than is generally realized, cannotbe cured, are associated with considerable morbidity and stillcause significant mortality. Appropriate investigations arecritical to making the correct diagnosis so that treatment canbe tailored to the patient’s condition. It is important not only

to recognize and treat the current disease activity, but also toprevent death and the development of chronic damage dueto complications of the disease and the immuno-suppressivedrugs used to treat it. Principles of drug treatment arediscussed, but the final choice of drug and exact dosages tobe used will depend on the details of the patient’s conditionand should be planned by a physician with relevantexperience of these conditions and responsible for themanagement of the patient.

Due to the variable severity of these diseases and theirmultisystem nature, patients with an autoimmuneconnective tissue disease may present to general practioners,general physicians or internal medicine specialists,obstetricians, intensive care or any medical or surgicalspecialist. The majority of patients with these conditions arecared for long term by dermatologists, rheumatologists,and/or nephrologists, as it is the skin, joints and kidneys thatare most often involved. However, it should be noted thatmany patients develop cardio-respiratory or infectiouscomplications, including accelerated atherosclerosis, due tothe disease and/or its treatment. Multidisciplinary care isimportant and should involve the full range of allied healthprofessionals, as well as the relevant clinical specialistsdepending on the organs and systems involved.

Caroline GordonWolfgang L Gross

SLE Visual Guide:A4 Visual Guide 28/9/11 08:43 Page vi

Editors and contributors

Editors

Caroline Gordon, MD FRCPProfessor and Consultant in RheumatologySchool of Immunity and InfectionCollege of Medical and Dental ServicesThe Medical School, University of BirminghamBirmingham, UK

Wolfgang L Gross, MD PhDMedical Director & ChairmanDepartment of RheumatologyUniversity of Luebeck & Clinic for Rheumatology,

Bad BramstedtLuebeck, Germany

Contributors

Ariane L Herrick, MD FRCPProfessor of RheumatologyThe University of Manchester Manchester Academic Health Science Centre Salford Royal Hospital Salford, UK

Julia U Holle, MDDepartment of RheumatologyUniversity of Lübeck and Klinikum Bad BramstedtBad Bramstedt, Germany

Iona Meryon, MBChB MRCPDepartment of RheumatologyChelsea and Westminster Hospital NHS Foundation TrustLondon, UK

vii

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viii

Abbreviations

AMA anti-mitochondrial antibody ANA anti-nuclear antibody ANCA anti-neutrophil cytoplasmic antibody APS anti-phospholipid syndrome AZA azathioprine BMD bone mineral density cANCA cytoplasmic ANCA CAP community acquired pneumonia CK creatine kinase CK-MB creatine kinase MB isoenzyme CMV cytomegalovirus CNS central nervous system CRP C-reactive protein CSS Churg–Strauss syndrome CT computed tomography CYC cyclophosphamide DEXA dual energy X-ray absorptiometry DILS diffuse infiltrative lymphocytosis syndrome (ds)DNA (double-stranded) deoxyribonucleic acid EBV Epstein–Barr virus ECG electrocardiogram EMG electromyography ENA extractable nuclear antigen ESR erythrocyte sedimentation rate GI gastrointestinal HCQ hydroxychloroquine HDU high dependency unit

HIV human immunodeficiency virus HSP Henoch–Schönlein purpura HTLV human T-lymphotrophic virus IFN interferon Ig immunoglobulin IL interleukin MALT mucosa-associated lymphoid tissue MI myocardial infarction MMF mycophenolate mofetil MR magnetic resonance MTX methotrexate NHL non-Hodgkin’s lymphoma NIH National Institutes of Health NSAID nonsteroidal anti-inflammatory drug PAN polyarteritis nodosa PBC primary biliary cirrhosis RCT randomized controlled trial RF rheumatoid factor SLAM systemic lupus activity measure SLE systemic lupus erythematosus SS Sjögren’s syndrome SSc systemic sclerosis STIR short tau inversion recovery TNF tumour necrosis factor UV ultraviolet WG Wegener’s granulomatosis

SLE Visual Guide:A4 Visual Guide 28/9/11 08:43 Page viii

General approach to theassessment of patientswith a suspectedconnective tissue diseaseAriane L Herrick

Chapter 1

Introduction

Connective tissue diseases including the vasculitides can bedifficult to diagnose, yet early diagnosis is essential in orderto initiate effective treatment as soon as possible, andthereby prevent/minimize tissue injury. Therefore, the keypoint is to be able to recognize the clinical features whichprompt the question ‘Could this patient have a connectivetissue disease or vasculitis?’ Early treatment can belifesaving, as exemplified by Scenarios 1 and 2.

Scenario 1A 55-year-old male was admitted with profound lethargyand swollen wrists, knees, and ankles, and recenthaemoptysis (he was a heavy smoker). On examination hewas pale, with synovitis of his wrists and knees (with smallknee effusions) and pitting oedema of both ankles. He wasanaemic with a haemoglobin of 99 g/l (normocytic),erythrocyte sedimentation rate (ESR) was very high at 113mm/h. Plasma biochemistry showed impaired renalfunction (urea 14.8 mmol/l, creatinine 190 μmol/l) with alow albumin at 30 g/l. Chest X-ray showed a cavitatinglesion of the left upper zone. The following day hiscreatinine had risen to 250 μmol/l. No dipstick testing ofurine had been performed on admission – 1 day later thisshowed blood and protein.

The medical registrar initially queried a paraneoplasticsyndrome with some dehydration. However, when thedipstick and repeat renal function results were seen thefollowing day, the working diagnosis was revised to aconnective tissue disease, possibly vasculitis. The renalteam performed an urgent renal biopsy and intravenousmethylprednisolone was commenced. Renal biopsy showednecrotizing glomerulonephritis, and intravenouscyclophosphamide was added to the drug regime. Initially

the renal function deteriorated further but 2 weeks laterbegan to improve. Immunology testing was positive foranti-neutrophil cytoplasmic antibody (cytoplasmic pattern,cANCA), consistent with the clinical impression ofWegener’s granulomatosis, which had been made on thebasis of a cavitating lung lesion, renal vasculitis,inflammatory arthritis, and systemic inflammation.

Scenario 2A 43-year-old female was admitted with a 3-day history ofbreathlessness and general malaise. On examination, hertemperature was 38°C, she had basal crackles, and poor airentry. Haemoglobin was 109 g/l, white blood cell count 4.9× 109/l, platelets 120 × 109/l. ESR was 45 mm/h. Chest X-ray showed widespread interstitial shadowing.

The working diagnosis was of community acquiredpneumonia (CAP). However, despite antibiotic therapy hercondition deteriorated rapidly with falling PO2 and she wastransferred to the high dependency unit (HDU). Themedical registrar who assessed the patient in the HDUnoted that she had felt tired for around 2 months, had beensuffering from mouth ulcers, and had recently begunexperiencing Raynaud’s phenomenon. An autoimmunescreen showed that she was strongly anti-nuclear antibody(ANA) positive (1/10,000) with a high titre of anti-double-stranded deoxyribonucleic acid (dsDNA) antibodies (155U/ml, reference range 0–7).

The diagnosis was revised to pneumonitis secondary tosystemic lupus erythematosus (SLE), and she was treatedwith intravenous methylprednisolone, followed later by oralprednisolone. After commencing steroids her clinicalcondition improved and the shadowing on chest X-rayresolved.

1

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Discussion of Scenarios 1 and 2Although Scenarios 1 and 2 describe patients with recentonset, fulminating illness, most patients with connectivetissue disease (including vasculitis) do not present withimmediately life-threatening illnesses, but have been unwellfor some time before a diagnosis is made. Clinical featuresare often nonspecific, especially early in the disease.Connective tissue disease should always be suspected in apatient who presents with multisystem inflammatorydisease.

The first step is to establish the diagnosis, recognizingthat many patients have overlapping features betweendifferent connective tissue diseases/vasculitides. Once adiagnosis is made, the emphasis of assessment changes. Itthen concentrates on assessment of activity and severity,and identification of new internal organ involvement.Assessment of activity and severity of the differentconnective tissue diseases is discussed mainly in thedisease-based chapters. Patients with connective tissuedisease usually need to be under long-term specialistreview, the main purpose of this being to recognize changesin disease activity and severity necessitating changes inmanagement.

History-taking and the assessment ofsymptoms

The key point is to take a full history as most tissues/organscan be affected in patients with connective tissue disease.

Presenting complaintThis may be virtually anything, examples being lethargy,breathlessness, heartburn, abdominal pain, paraesthesia,and rash.

General approach to the assessment of patients2

Systemic enquiryGeneralCommon symptoms are tiredness and weight loss. Patientsmay also report fever, but it must be remembered that feverin patients with suspected or established connective tissuedisease may be due to infection, to which they may bepredisposed as a result of either the underlying disease or itstreatment. For example, infection is a major contributor tomortality in patients with SLE, who are often complementdeficient and who are frequently treated with steroidsand/or immunosuppressant drugs. These symptoms –tiredness, weight loss, and fever – are all nonspecific andoccur in malignancy and infection as well as in connectivetissue disease (Table 1.1). To complicate matters further,there are associations between certain autoimmune diseasesand malignancy; therefore, even in the patient withestablished connective tissue disease, the clinician alwaysneeds to be alert to the development of concomitantdisease.

Skin and mucous membranesRashes occur in several of the connective tissue diseases, asdescribed more fully under ‘Examination’. If a patientcomplains of a rash, always ask if it is photosensitive:classically the ‘butterfly’ rash of SLE is photosensitive.Cutaneous ulcers occur especially in systemic sclerosis(SSc), when usually the fingers or toes are affected (seebelow), and in the vasculitides. Hair loss (patchy or diffuse)occurs commonly in SLE (1.1). Mouth ulcers (1.2) occurcommonly in SLE and Behçet’s syndrome (in which genitalulcers also occur). Oral dryness is one of the mainsymptoms of Sjögren’s syndrome. Other features aredescribed in Table 1.2 and below under ‘Examination’.

Manifestations (may occur separately or in Differential diagnoses to be consideredany combination)

Fatigue/tiredness/malaise Infection

Fever Connective tissue disease

Weight loss Vasculitis

Enlarged lymph nodes Malignancy (including lymphoma)

Table 1.1 Nonspecific manifestations of connective tissue disease or vasculitis


Raynaud’s phenomenonThis occurs commonly in connective tissue disease,especially in SSc, in which it is rare not to have Raynaud’s.The classic episodic colour changes of the fingers (white,then blue/purple, then red) occur typically in response tocold exposure or to stress (1.3). In Scenario 2, the point ofinterest about the Raynaud’s phenomenon was that it hadcommenced only recently: patients with primary(idiopathic) Raynaud’s phenomenon typically develop thisin their teens or early 20s. When Raynaud’s phenomenonoccurs in patients with underlying connective tissue disease

General approach to the assessment of patients 3

it can progress to irreversible tissue injury with ulceration,scarring, or gangrene. Worrying features in the history area persistent fingertip discoloration and the development ofdigital ulceration.

MusculoskeletalInvolvement of the musculoskeletal system is common(Table 1.3). Patients with connective tissue disease oftenhave arthralgia. They may also develop an inflammatoryarthritis with joint pain, swelling, and stiffness. Proximal

SLEPhotosensitive (‘butterfly’) rash

Alopecia

Mouth ulcers

APSLivido reticularis

Systemic sclerosisScleroderma

Digital pitting/ulceration

Telangiectases

Calcinosis

DermatomyositisFacial rash (‘heliotrope’) with periorbital oedema

Gottron’s papules

Periungal erythema

VasculitisSplinter haemorrhages and nailfold infarcts

Purpura

Oral and genital ulcers in Behçet’s syndrome

Cutaneous ulcers

Table 1.2 Typical skin manifestations in connective tissue disease

1.1 Diffuse alopecia in a patient with systemic lupus

erythematosus.

1.2 Aphthous mouth ulcer. (Courtesy of Dr. M.

Pemberton.)


1.3 Raynaud’s phenomenon in a patient with

undifferentiated connective tissue disease: several

of the digits are cyanosed.


muscle pain and weakness occur in inflammatory muscledisease: the patient has difficulty getting out of bed or outof a chair, especially first thing in the morning. Proximalmuscle weakness may also be a side-effect of chronic use ofcorticosteroids.

CardiorespiratoryA number of different forms of heart or lung involvementmay occur including pulmonary fibrosis, pneumonia,pulmonary embolism (especially in those with anti-phospholipid syndrome [APS]), pericardial effusion,valvular heart disease or (especially in SSc) arrhythmia(Table 1.4). Therefore, all cardiorespiratory symptomsshould be asked about if not volunteered, includingbreathlessness, chest pain, and oedema. Patients withconnective tissue disease, especially SLE, are at increased

JointsPain (arthralgia)

Early morning stiffness

Joint line tenderness

Joint swelling (synovial hypertrophy +/- effusion)

Reduced range of movement

MusclesPain (myalgia)

Early morning stiffness

Proximal muscle tenderness

Proximal muscle weakness

Table 1.3 Musculoskeletal symptoms and signs in connective tissue disease or vasculitis

Cardiac manifestationsPericarditis

Pericardial effusion

Angina

Arrhythmias

Cardiac failure

Valvular heart disease

Pulmonary manifestationsPleurisy

Pleural effusion

Pulmonary embolism

Pneumonitis

Lung fibrosis

Haemoptysis

Table 1.4 Some examples of cardiorespiratory manifestations of connective tissue disease or vasculitis

Upper gastrointestinal tractMucosal ulceration

Acid reflux

Dysphagia

Lower gastrointestinal tractAbdominal pain

Change in bowel habit

Blood loss in stools

Table 1.5 Some examples of gastrointestinal symptoms of connective tissue disease or vasculitis by region



risk of coronary artery disease and should therefore bespecifically asked about symptoms.

GastrointestinalGastrointestinal (GI) features are often not recognized asbeing due to connective tissue disease or vasculitis (Table1.5). Swallowing difficulty, often with reflux symptoms, isvery common in patients with SSc who may experience awide range of GI symptoms including alteration in bowelhabit: diarrhoea may reflect bacterial overgrowth, andconstipation, colonic dysmotility. Abdominal pain can(rarely) be caused by mesenteric ischaemia, which canoccur in patients with vasculitis.

RenalAnkle swelling has a long differential diagnosis but includesnephrotic syndrome, which can occur for example in SLE.

NeuropsychiatricAs with the other organ systems, almost any symptom canoccur in patients with connective tissue disease. SLE can beassociated with involvement of peripheral, central, andautonomic nervous systems as well as with cognitiveimpairment and psychiatric disturbance (Table 1.6). Animportant point is that neuropsychiatric features can occurnot only as a primary manifestation of connective tissuedisease but also indirectly: for example, as a result ofhypertension, uraemia, infection, coagulation problems (asin APS), or as a result of drug treatment, especially withcorticosteroids. Paraesthesia is a common feature inpatients with connective tissue disease and can have manycauses, for example, peripheral neuropathy or (in the upper

Region ManifestationsPeripheral nervous system Paraesthesia in distribution of a nerve, e.g. median nerve

Weakness in distribution of a nerve, e.g. ulnar nerve

Central nervous system Psychosis

Seizures

Hemiplegic stroke

Transverse myelitis

Autonomic nervous system Postural hypotension

Table 1.6 Some examples of neuropsychiatric manifestations of connective tissue disease or

vasculitis by region

limb) carpal tunnel syndrome. Many patients withconnective tissue diseases, as with other chronic diseases,become depressed.

EyesThe commonest symptom is of dry, gritty eyes, occurring inpatients with Sjögren’s syndrome. Eye dryness can beconfirmed using Schirmer’s tear test (1.4).

1.4 Schirmer’s test. In this case showing satisfactory

wetting of the filter paper.


Drug historyA detailed drug history is important because:• Connective tissue disease (especially SLE and small

vessel vasculitis) can be a side-effect of certain drugs. Forexample, minocycline can cause SLE or vasculitis.

• Drugs used in the treatment of connective tissue diseasemay cause side-effects which are difficult to distinguishfrom active disease. For example, methotrexate maycause pneumonitis and several immunosuppressantsmay cause pancytopenia.

Two common clinical dilemmas are:1 A patient with dermatomyositis complains of increasing

muscle weakness. Is this active disease despite steroids(necessitating an increase in dosage) or is it steroid-related myopathy (necessitating a reduction in dosage)?

2 A patient with SLE on azathioprine (or anotherimunosuppressant) develops pancytopenia. Is this activeSLE (necessitating an increase in dosage) or is itazathioprine-related bone marrow toxicity (necessitatinga reduction in dosage)?

In both these examples, a careful history andexamination, backed up by appropriate investigations,should indicate whether the drug treatment should beincreased or reduced.

Family historyThere is likely to be a genetic component to most of theconnective tissue diseases, although the absolute risk tofamily members is small. For example, although the singlemost important risk factor for SSc is a positive familyhistory, the risk for each family member is less than 1%.Perhaps more important to the clinician is the anxietygenerated by the family history: the patient with tirednessis concerned because his/her mother had SLE, or thepatient with Raynaud’s phenomenon is concerned becausehis/her mother had SSc. These fears/anxieties should notbe underestimated.

Social historySmoking causes vascular injury, and therefore should bestrongly discouraged in patients with connective tissuediseases who often already have a compromisedvasculature. Details about occupation, housing, and socialsupport are important to establish (as in other chronicdiseases) whether or not a patient is able to work, and thelevel of home support, as these parameters are often majorcontributors to quality of life.

Examination for signs of connectivetissue disease

A full examination is required for the same reason as a fullhis tory: these are multisystem diseases and (in patients withestablished connective tissue disease or a vasculitis) drugsused in their treatment may cause a wide range of adverseeffects.

Systemic enquiryGeneralExamine the temperature chart. As stated above, fever canbe a manifestation of connective tissue disease. Manypatients are anaemic and therefore pale. Lymphadenopathyis described in connective tissue disease but is uncommon,therefore other causes should also be considered (Table1.1). In the patient with parotid gland enlargement,consider Sjögren’s syndrome (1.5).

Skin and mucous membranesThe skin and mucous membranes should always be examinedcarefully because these can often give clues to an underlyingconnective tissue disease. Typical skin manifestations of thedifferent connective tissue diseases are summarized in Table1.2. While these have been listed by disease, it should berecognized that the skin and mucous membraneabnormalities overlap between diseases and so these are oftenfalse distinctions. For example, digital ischaemic ulcers canoccur in SLE, SSc, and in the vasculitides.• SLE. While the typical rash is facial (‘butterfly’) (2.2A,

B) and photosensitive, more chronic lesions occur indiscoid (2.6, 2.7A) and subacute cutaneous lupuserythematosus (1.6). Alopecia, which may be scarringespecially in discoid lupus (2.9), and mouth ulcers arealso common. Mouth ulcers are a common side-effect ofimmuno suppressant drugs and so this possibility shouldbe considered where relevant.

• APS. This diagnosis should be considered in patientswith livedo reticularis (1.7).

• SSc. This is associated with many different cutaneousmanifestations:

– Skin thickening (scleroderma). Scleroderma proximal tothe metacarpophalangeal joints is the major classificationcriterion for SSc and its development often leads to thediagnosis. Skin thickening usually begins in the fingers(sclerodactyly [1.8]), feet, and face and then mayprogress proximally especially in those with the diffusecutaneous subtype. It must be remembered, however,that scleroderma occurs in conditions other than SSc andit is important to differentiate SSc from, for example,generalized morphoea (1.9) or eosinophilic fasciitis.




1.7 Livedo reticularis.

The rash is more

obvious over the left

knee than the right.

1.5 Right-sided

parotid gland

enlargement in a

patient with

Sjögren’s

syndrome

secondary to SSc.

1.6 Subacute

cutaneous lupus

erythematosus.

1.8 Sclerodactyly. The skin is

thickened, giving rise to flexion

contractures of the fingers.

1.9 Generalized

morphoea, most

marked over the

thorax posteriorly

where the skin is

thickened, tight, and

shiny. This is not

SSc: the patient did

not have Raynaud’s

phenomenon and the

skin thickening did

not commence

distally.


– Digital ulceration/ischaemia. An underlying connectivetissue disease should always be suspected when a patientwith good peripheral pulses presents with digital ulcersor ischaemia, because the pathology is likely to involvethe digital arteries and/or the microvessels. Digital ulcerstend to occur at the fingertips in patients with limitedcutaneous SSc (1.10) and over the proximal and distalinterphalangeal joints in patients with diffuse cutaneousdisease (1.11). Digital ulcers can become infected andsevere digital ischaemia can progress to gangrene (1.12).Digital pitting (1.13) is one of the three minorclassification criteria of SSc and reflects chronic digitalischaemia.

– Telangiectases (1.14). If accompanied by othercharacteristic symptoms and signs, for example,Raynaud’s phenomenon, these should make one suspectSSc.

– Calcinosis. Subcutaneous calcinosis (1.15) should alsoalways make one query an underlying diagnosis of SSc(1.16).

• Dermatomyositis. This diagnosis may be suspected fromthe typical rash, which commonly affects the face (some -times with heliotrope discoloration and periorbital oedema,5.5A, B), neck and upper back, the extensor aspects of thehands (Gottron’s papules, 5.6A, B), elbows, and knees,and the periungal areas. Dermato myositis is associated withmarked abnormalities of the nailfold capillaries, which cansometimes be seen with the naked eye (1.17A, B).

• Vasculitis. Typical features pointing to an underlyingvasculitis include splinter haemorrhages, nailfoldinfarcts, a purpuric rash (1.18, 1.19A, B) and vasculiticulcers (1.20A, B, 1.21). If any of these are observed,then this should prompt a search for evidence ofvasculitis elsewhere, for example renal vasculitis. Asalready mentioned, digital ischaemia and mouth ulcers(1.2) can also occur in the vasculitides. Becausevasculitis can occur as part of other multisysteminflammatory diseases, for example in patients withrheumatoid arthritis and SLE, it is important always tobe on the alert for signs of vasculitis because these mightinfluence management (1.21).


1.10 Infected fingertip ulceration in a patient with limited

cutaneous SSc.

1.11 Ulceration over the extensor surface of the middle

finger proximal interphalangeal joint in a patient with

diffuse cutaneous SSc. There is marked sclerodactyly

with contractures.

1.12 Digital tip ulcer which has progressed to gangrene in

a patient with SSc.


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