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Rheumatology > Autoimmune rheumatic disease > Flashcards

Autoimmune rheumatic disease Flashcards

1
Q

What are the autoimmune rheumatic diseases?

A

SLE
Antiphospholipid syndrome
Systemic sclerosis (scleroderma)
Polymyositis and dermatomyositis

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2
Q

What is SLE?

A

A heterogenous, inflammatory, multisystem autoimmune disease in which antinuclear antibodies occur (often years before clinical symptoms). Lupus erythematous describes the typical rash of SLE and the term systemic raises the potential for multi-organ involvement

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3
Q

Describe the epidemiology of SLE

A

Age: peak onset in the 20s or early 30s but cases do occur in children and the elderly

Women are affected 9x more frequently than men

More common in African American women. Very rare in women of Northern European origin

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4
Q

What genes have been linked to development of SLE?

A

HAL-B8, HLA-DR3, HLA-A1

Deficiency of C4 complement gene

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5
Q

What drugs have been identified as risk factors for SLE?

A

Hydralazine
Isonizid
Procainaminde

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6
Q

Exposure to which virus has been suggested to trigger SLE?

A

EBV

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7
Q

What are the common presenting features of SLE?

A

Symmetrical small joint arthralgia and skin rash. The classic feature is the malar rash- butterfly shaped rash often precipitated by sunlight which runs across the cheeks and over the bridge of the nose, sparing the naso-labial folds. It is erythematous and may be raised and pruritic (itchy).

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8
Q

Describe the pathogenesis of SLE

A

When cells die by apoptosis, the cellular remnants appear on the cell surface as small blebs which carry self antigens including nuclear constituents such as DNA and histones. These are normally taken up by phagocytes and so are hidden from the immune system. In people with SLE, removal of these blebs by phagocytosis is inefficient. Instead they are taken up by antigen presenting cells and presented to T cells, which in turn stimulate B cells to produce autoantibodies directed against these antigens. This breakdown of tolerance and autoantibody production leads to activation of complement and influx of neutrophils, causing inflammation in the tissues. There is also abnormal cytokine production with increased blood levels of IL-10 and alpha-interferon in particular closely linked to high activity of inflammation in SLE

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9
Q

Describe the joint involvement seen in SLE

A

Most common clinical feature occurring in >90% of patients
Patients often present with symptoms resembling RA with symmetrical joint arthralgia
Joints are painful but characteristically appear clinically normal, although sometimes there is a slight soft tissue swelling surrounding the joint
Deformity because of joint capsule and tendon contraction is rare as are bony erosions

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10
Q

What are the general features of SLE?

A

Fever
Depression
Fatigue
Weight loss

All common in >50% patients

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11
Q

What are the skin/connective tissue features of SLE?

A

Skin symptoms seen in 85% of patients:

  • Photosensitivity- prolonged exposure to sunight can lead to exacerbation of the disease
  • Butterfly/malar rash
  • Discoid rash
  • Vasculitis
  • Purpura
  • Urticaria (hives)
  • Alopecia- can lead to irreversible bald patches
  • Raynaud’s common; may precede the development of other symptoms by years

Muscles:

  • Myalgia is present in up to 50% of patients
  • Myositis is seen in <5%
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12
Q

What are the respiratory features of SLE?

A

50% of patients will have lung involvement

Most common manifestations are bilateral pleurisy and pleural effusion

A restrictive lung defect may develop.

Fibrosis may occur (rare)

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13
Q

What are the cardiovascular features of SLE?

A
  • The heart is involved in 25% of cases
  • Pericarditits with small pericardial effysions detected by ECG is common
  • Mild myocarditis may also occur causing arrhythmias
  • Aortic valve lesions may rarely be present
  • A non-infective endocarditis may also (rarely) occur
  • Increased frequency of IHD and stroke
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14
Q

What are the renal features of SLE?

A
  • Glomerulonephritis is seen in 30% of patients
  • Patients should have regular screening of their urine for blood and protein
  • An asymptomatic patient with proteinuria may be in the early stages of lupus nephritis and treatment may prevent progression to renal impairment
  • Renal vein thrombosis can occur in nephrotic syndrome
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15
Q

What are the nervous features of SLE?

A
  • Involvement of the nervous system occurs in up to 60% of patients
  • May be mild depression
  • Occasional more severe psychiatric disturbances occur- epilepsy, migranes, cerebellar ataxia, aseptic meningitis, cranial nerve lesions, cerebrovascular disease or a polyneuropathy may be seen
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16
Q

What are features of SLE are seen in the eyes?

A
  • Retinal vasculitis can cause infarcts which appear as hard exudates and haemorrhages
  • There may be conjunctivitis or optic neuritis but blindness is rare
  • Secondary Sjogren’s syndrome is seen in about 15% of patients
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17
Q

What are the GI features of SLE?

A
  • Mouth ulcers are common and may be a presenting feature
  • These may be painless or become secondarily infected and painful
  • Mesenteric vasculitis can produce inflammatory lesions involving the small bowel (infarction or perforation)
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18
Q

What is Raynaud’s phenomenon?

A

Intermittent spasm of the arteries supplying the fingers and toes. Usually precipitated by cold and relieved by heat.

There is initially pallor (resulting from vasoconstriction) followed by cyanosis and finally redness from hyperaemia.

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19
Q

What are the causes of secondary Raynaud’s?

A

Autoimmune rheumatic disease

Beta-blocker therapy

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20
Q

How is Raynaud’s treated?

A

Keeping hands and feet warm
Stopping smoking
Stopping beta-blockers
Medical treatment= oral nifedipine

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21
Q

What are the results of a blood test in a patient with SLE?

A

Normochromic, normocytic anaemia
Often with neutropenia/lymphopenia and thrombocytopenia
ESR is raised BUT CRP IS USUALLY NORMAL (unless the patient has a coexistent infection)

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22
Q

What are the most significant antibodies which may be raised in SLE?

A
  • ANA (positive in >95% of SLE patients)
  • anti-dsDNA (highly specific but only positive in 60% of cases)

ENA: may be positive in 20-30% of cases

  • anti-Ro
  • anti-Sm
  • anti-La
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23
Q

Describe the management of mild to moderate SLE

A
  • Avoid excessive exposure to sunlight- high factor sunblock
  • Reduce cardiovascular risk factors
  • NSAIDS
  • Hydroxychlorine for joint and skin symptoms
  • Topical corticosteroids are used in cutaneous lupus
  • Low dose steroids in chronic disease
  • Single IM injections or short courses of oral corticosteroids are useful in treating severe flares of arthritis, pleuritis or pericarditis
  • Azathioprine, methotrexate and mycophenolate are used as steroid sparing agents
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24
Q

How are severe manifestations of SLE managed?

A

Acute SLE (e.g. haemolytic anaemia. nephritis, severe pericarditis or CNS disease) requires urgent IV cyclophosphamide + high dose prednisolone

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25
Q

Describe the course of SLE

A

An episodic course is characteristic with exacerbations and complete remissions that may last for long periods. However, SLE can also be chronic persistent condition.

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26
Q

What is anti-phospholipid syndrome?

A

Combinatyion of arterial or venous thrombosis and/or recurrent miscarriages in patients who also have persistently positive blood tests for antiphospholipid antibodies (aPL)

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27
Q

How can antiphospholipid antibodies be detected?

A
  1. The anticardiolipin test: detects antibodies (IgG or IgM) that bind the negatively charged phospholipid, cardiolipin
  2. The lupus anticoagulant test- detects changes in the ability of blood to clot in a test tube. It is NOT a test for lupus but for APS. The anticoagulant effect caused by aPL in the test tube causes a procoagulant effect in vivo
  3. The anti-β2-glycoprotein I test, which detects antibodies that bind β2-glycoprotein, a molecule that closely interacts with phospholipids
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28
Q

What criteria is necessary for diagnosis of APS?

A

A persistently positive test for aPL in one or more of the tests used for diagnosis- i.e. positive on at least 2 occasions ≥12 weeks apart. N.B. some people who test positive for aPL will never get APS

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29
Q

What are the most common clinical features of APS?

A

Most common (defining) features:

  1. Thrombosis and/or
  2. Pregnancy loss
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30
Q

How is APS treated in patients who have had a thrombosis?

A
  • In people who have had one or more thrombosis, recommended treatment is anticoagulation with warfarin
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31
Q

How is APS treated in pregnancy?

A

Oral aspirin and subcutaneous heparin from early in gestation. Reduces the chances of miscarriage but pre-eclampsia and poor fetal growht remain common.

Of women who have had 2 or more spontaneous miscarriages, 27% have APS

32
Q

What is systemic sclerosis (scleroderma)?

A

A multisystem disease with involvement of the skin and Raynaud’s phenomenon occuring early

33
Q

What is the epidemiology of scleroderma?

A

3x more common in women

Usually presents between the ages of 30 and 50

34
Q

What proportion of scleroderma is limited cutaneous scleoderma (LcSSc)?

A

70%

35
Q

What are the clinical features of limited cutaneous scleoderma?

A

Usually starts with Raynaud’s phenomenon may years (up to 15) before any skin changes.

Skin involvement is limited to the hands, feet, face and forearms.

Skin is tight over the fingers and often produces flexion deformities of the fingers (sclerodactyly)

Involvement of skin of the face produces a characteristic ‘beak like’ nose and a small mouth (microstomia)

Painful digital ulcers and telangiectasia with dilated nail fold capillary loops are seen

Digital ischaemia may lead to gangrene

GI tract involvement is common

Pulmonary hypertension develops in 21% of patients and pulmonary interstitial disease may also occur

36
Q

What is the former name for limited cutaneous systemic sclerosis?

A

CREST

37
Q

What does CREST stand for?

A 
Calcinosis
Raynauds
oEsophadeal and gut dysmotility
Sclerodactyly
Telangiectasia
38
Q

What are telangiectasia?

A

Small, dilated blood vessels near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. They can develop anywhere on the body but are commonly seen on the face around the nose, cheeks, and chin

39
Q

What is sclerodactyly?

A

Localized thickening and tightness of the skin of the fingers or toes. Sclerodactyly often leads to ulceration of the skin of the distal digits and is commonly accompanied by atrophy of the underlying soft tissues

40
Q

What clinical features are caused by antiphospholipid syndrome?

A 
N.B. CLOTS
C= Coagulation defect
L= Livedo reticularis
O= Obstetric (recurrent miscarriages)
T= Thrombocytopenia (reduced platelets)
41
Q

How is SLE diagnosed clinically?

A

≥4 of the following 11 criteria are present

  1. Malar/butterfly rash
  2. Discoid rash
  3. Photosensitivity
  4. Oral ulcers
  5. Non-erosive arthritis
  6. Serositis: pleuritis or pericarditis
  7. Renal disorder: persistent proteinuria or cellular/urinary casts
  8. CNS disorder
  9. Haematological disorder
  10. Immunological disroder
  11. ANA +ve
42
Q

What other autoimmune conditions are associate with SLE?

A

Sjogren’s (15-20%)
Autoimmune thyroid disease (5-10%)
Antiphospholipid syndrome (20-30%)

43
Q

How does drug induced SLE present?

A

Causes a mild lupus-like syndrome which often resolves after the drug is withdrawn. Skin and lung signs prevail while renal and CNS are rarely affected

44
Q

What are the 3 best tests done to monitor activity of SLE?

A
  1. Anti-dsDNA antibody titres
  2. Complement: C3 and C4 decrease due to consumption of complement, while C3d and C4d (their degradation products) increase
  3. ESR

N.B. Also check BP and urine for casts or protein

45
Q

What drugs should not be prescribed to patients with SLE as they can worsen idiopathic Lupus?

A

OCP

Sulfonamides

46
Q

What is a discoid rash?

A

Erythematous raised patches with adherent keratotic scales and follicular plugging, +/- atrophic scarring. Seen in SLE

Think of it as a 3 stage rash affecting ears, cheeks, scalp, forehead and chest: erythema–>pigmented hyperkeratotic oedematous papules–> atrophic depressed lesions

47
Q

What is a malar/butterfly rash?

A

Fixed erythema, flat or raised, over the malar eminences, tending to spare the nasolabial folds. Occurs in up to 50% of SLE cases

48
Q

What clinical signs of renal dysfuction may be seen on testing of patients with SLE?

A

Persistent proteinuria >0.5g/d OR cellular casts

49
Q

What are the haematological signs seen in some cases of SLE?

A 
Haemolytic anaemia with reticulocytosis 
OR
Leukopenia
OR
Lymphopenia
OR
Thrombocytopenia
50
Q

What are the diagnostic signs of “immunological disorder” seen in SLE?

A

Anti-dsDNA antibody
Anti-Sm antibody
Antiphospholipid antibody

51
Q

What antibodies are often associated with limited cutaneous systemic sclerosis?

A

Anti-centromere antibodies (in 70-80%)

52
Q

What life-threatening symptom should be looked out for in patients with limited cutaneous systemic sclerosis?

A

Pulmonary hypertension

53
Q

What are the clinical features of diffuse cutaneous systemic sclerosis?

A
  • Diffuse skin involvement (whole body in severe cases)

- Early organ fibrosis: lung; cardiac; GI and renal

54
Q

What antibodies are associated with diffuse cutaneous systemic sclerosis?

A

Antitopisomerase-1 (Scl70) in 40%

anti-RNA polymerase in 20%

55
Q

How should diffuse cutaneous systemic sclerosis be monitored?

A

Prognosis is poor
Monitor BP meticulously
Perform annual echocardiogram and spirometry

56
Q

How is systemic sclerosis managed?

A
  • Currently no cure
  • Immunosuppressive regimens e.g. IV cyclophosphamide used for organ involvement or progressive skin disease
  • Monitor BP and renal function- regular ACEi or ARB reduces risk of renal crisis
57
Q

What is relapsing polychondritis?

A

A multi-systemic condition characterized by inflammation and deterioration of cartilage. Affects the pinna (floppy ears), nasal septum, larynx (causing stridor) and joints

58
Q

What conditions are associated with relapsing polychondritis?

A

Aortic valve disease
Polyarthritis
Vasculitis
30% have underlying rheumatic or autoimmune disease

59
Q

How is relapsing polychondritis treated ?

A

Steroids and immunosuppressives

60
Q

What are polymyositis and dermatomyositis?

A

Rare muscle disorders of unknown aetiology in which there is progressive, symmetrical proximal weakness and autoimmune mediated striated muscle inflammation (myositis) assocated with myalgia +/-arthralgia. When the skin is involved it is called dermatomyositis. The myositis (esp. in dermatomyositis) may be a paraneoplastic phenomenon

61
Q

What cancers commonly cause dermatomyositis as a paraneoplastic phenomenon?

A

Lung
Pancreatic
Ovarian
Bowel

62
Q

What movements do patients typically find difficult if they suffer from myositis?

A

Squatting
Going upstairs
Rising from a chair
Raising their hands above their head

63
Q

What are the clinical features of myositis?

A

Symmetrical progressive muscle weakness and wasting affecting the proximal muscles of the shoulder and pelvic girdle. Pain and tenderness are uncommon. Involvement of the pharyngal, laryngeal and respiratory muscles can lead to dysphagia, dysphonia and respiratory failure (N.B. dysphonia= poor phonation. This is distinct from dysphasia in which a neurological defect prevents speech)

64
Q

What are the clinical features of dermatomyositis?

A

Features of myositis plus skin signs:

  • Macular erythemic rash- if present over back and shoulders= Shawl sign
  • Lilac-purple (heliotrope) rash on the eyelids often with oedema around the eye
  • Nail fold erythema- dilated capillary loops
  • Gottron’s papules: scaly, erythematous plaques over the knuckles, also seen on elbows and knees
  • Subcutaneous calcifications
65
Q

What extra-muscular signs are seen in myositis and dermatomyositis?

A 
Fever
Arthralgia
Raynaud's
Interstitial lung fibrosis
Myocardial involvement (myocarditis, arrhythmias)
66
Q

What is the definitive test for establishing diagnosis of myositis and dermatomyosits?

A

Muscle biopsy- confirms diagnosis and excludes mimicking conditions

67
Q

What investigations are done in suspected cases of myositis and dermatomyosits?

A
  • Muscle biopsy
  • Serum muscle enzymes- creatinine kinase, aminotransferases and aldolase- are elevated
  • Anti-JO antibodies (anti-tRNA synthetase) are positive
  • ESR is usually not raised
  • Electromyography (EMG) shows characteristic changes (fibrillation potentials)
  • MRI can demonstrate areas of muscle inflammation and shows muscle oedema in acute myositis
68
Q

How are myositis and dermatomyosits managed?

A
  • Screen systematically for malignancy
  • Start oral prenisolone (first line treatment of choice)
  • Immuno suppresives and cytotoxics are used in resistant cases (e.g. azathioprine, methotrexate, cyclophosphamide or cyclosporin)
69
Q

What is Sjogren’s syndrome?

A

An autoimmune rheumatic disease characterised by immunologically mediated destruction of the epithelial exocrine glands, especially the lacrimal and salivary glands. It predominantly affects middle-aged women

70
Q

What are the two main clinical features of Sjogren’s syndrome?

A 
Dry eyes (keratoconjunctivitis sicca)
Dry mouth (xerostomia)
71
Q

How might mouth dryness be assessed clinically?

A

Difficulty eating a dry biscuit

Absence of pooling of the saliva when the tongue is lifted

72
Q

How is Sjogren’s syndrome classified?

A

Primary Sjogren’s syndrome: occurs as an isolated disorder

Secondary Sjogren’s syndrome: occurs in association with another autoimmune disease, commonly RA or SLE

73
Q

What are the clinical features of Sjogren’s?

A 
Dry eyes
Dry mouth
Arthritis
Raynaud's
Renal tubular defects causing diabetes insipidus and renal tubular acidosis
Pulmonary fibrosis
Vasculitis
Increased incidence of non-Hodgkin's B cell lymphoma
74
Q

What investigations are done in patients with suspected Sjogren’s syndrome?

A

Serum autoantibodies: ANA in 80%, Anti-Ro in 60-90% and RF in primary Sjogren’s syndrome

Labial gland biopsy shows characteristic changes of lymphocyte infiltrations and destruction of acinar tissue

A positive Schirmer test- a standard strip of paper is palced on the inside of the lower eyelid- wetting of <10mm in 5 minutes is positive and confirms defective tear production

75
Q

How is Sjogren’s syndrome managed?

A

Treatment is symptomatic with artificial tears and saliva replacement solutions

76
Q

What is an ‘overlap’ syndrome?

A

An overlap syndrome combines features of more than one ARD

77
Q

What is an undifferentiated ARD?

A

Undifferentiared ARD is the term used when patients have evidence of autoimmunity and some clinical features of ARDs but not enough to make a diagnosis of any individual ARD

Rheumatology (13 decks)

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