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Flashcards in Connective Tissue Diseases Deck (58):
1

What are connective tissue diseases?

They are characterized as a group by the presence of spontaneous over activity of the immune system.
They are often associated with specific auto-antibodies which can help define the diagnosis.

2

What is SLE?

Systemic AI disease that can affect any part of body. Can often mimic or is mistaken for other illnesses

3

What is the epidemiology of SLE?

F:M 9:1. Higher in asians, afro-americans/caribbeans and hispanic americans. Commoner in asian indians than caucasians in UK.

4

What genetic factors lead to SLE?

High concordance in monozygotic twins-increased incidence amongst relatives, identification of gene abnormalities predisposing to lupus

5

What hormonal factors lead to SLE?

Incidence increased with higher oestrogen exposure-early menarche, on oestrogen containing contraceptives and HRT

6

What environmental factors lead to SLE?

Viruses e.g. EBV. UV light may stimulate skin cells to secrete cytokines stimulating B-cells. Silica dusk may increase risk

7

What is the pathogenesis of SLE?

Due to loss of immune regulation. Increased/defective apoptosis. Necrotic cells release nuclear material which acts as potential autoantigen. Autoimmunitu possibly results by extended exposure to nuclear/intracellular autoantigens. B/T cells stimulated, autoantibodies produced

8

What are the constitutional symptoms of SLE?

Fever, malaise, poor appetite, weight loss, fatigue

9

What are the mucocutaneous features of SLE?

Photosensitivity, malar rash, discoid lupus erythematosus, subacute cutaneous lupus

10

What are the MSK features of SLE?

Non-deforming polyarthritis/arthralgia (RA distribution- no radiological erosion), deforming arthropathy-Jacoud's, erosive arthritis, myopathy -weakness, myalgia, myositis

11

What are the pulmonary features of SLE?

Pleurisy
Infections
Diffuse lung infiltration and fibrosis
Pulmonary hypertension
Pulmonary infarct

12

What are the cardiac features of SLE?

Pericarditis
Cardiomyopathy
Pulmonary hypertension
Libman-Sachs endocarditis

13

What is the presentation of glomerulonephritis in SLE?

Proteinuria
Urine sediments
Urine RBC and casts
Hypertension
Acute renal failure
Chronic renal failure

14

What are the neurological features of SLE?

Depression/psychosis
Not always related to disease activity
Migranous headache
Cerebral ischaemia
TIAs or stroke
Cranial or peripheral neuropathy
Cerebellar ataxia

15

What are the haematological features of SLE?

Lymphadenopathy (25% patients). Leucopenia, anaemia (haemolytc, normochromic, normocytic), thrombocytopenia

16

What are the intrinsic factors making SLE patients susceptible to infection?

Low complements
Impaired cell mediated immunity
Defective phagocytosis
Poor antibody response to certain antigens

17

What are the extrinsic factors making SLE patients susceptible to infection?

Steroids
Other immunosuppressive drugs
Nephrotic syndrome

18

What are the screening tests for suspected SLE?

Full blood count
Renal function tests including urine examination
Anti-nuclear antibody
Anti-double stranded DNA antibodies
ENA
Complement levels

19

In what conditions will ANA be found?

RA, other AI conditions such as SLE, HIV, Hep C

20

In what percentage of SLE patients will ANA be +ve?

95% in titre of 1:160 or greater

21

When should a positive ANA test be taken seriously?

If other antinuclear antibodies are positive
Anti-dsDNA
Anti-Sm
Anti-Ro
Anti-RNP

When the patient presents with CTD features

22

Describe anti-double stranded DNA antibody in SLE

Occurs in ~60% patients. Highly specific for SLE-titre correlates with disease activity. May be associated with lupus nephritis

23

Describe Anti-ENA's associations

Anti-Ro (60%)
Usually associated with anti-La
Associated with cutaneous manifestations
Secondary Sjogren’s features
Congenital heart block and neonatal LE

24

Are Anti-Sm autoantibodies highly or not highly specific?

Highly (10-20% cases). Probably association with neuro involvement

25

What conditions are associated with anti-RNP?

Sclerodermatous skin lesions, Raynaud's, low grade myositis, SLE (30%)

26

What investigations other than bloods can be used in SLE?

CXR
Pulmonary function tests
CT chest
Urine protein quantification
Renal biopsy
Echocardiogram
Nerve conduction studies
MRI brain

27

What is done in SLE activity monitoring?

Clinical assessment incl. BP. Anti-dsDNA level +vely correlates with activity. C3/4 levels -vely correlate. Urine exam incl protein, cells and casts. FBC, blood biochemistry

28

What drug treatment is used in SLE?

NSAIDs, analgesia, anti-malarials (hydroxychloroquine), steroids, immunosuppressives (azathoprine, cyclophosphamide, methotrexate, mycophenolate mofetil), biologics (rituximab, belimumab)

29

What auto-antibody does Rituximab target?

Anti-CD20

30

What auto-antibody does Rituximab target?

Anti-Blys

31

What clinical features or test findings are needed to make a diagnosis of anti-phospholipid syndrome?

1 lab + 1 clinical feature needed-+ve anti-cardiolipin (phospholipid) antibodies and/or lupus anticoagulant activity and/or anti-beta2-glycoprotein on 2 occasions at least 12 wks apart. Arterial/venous thrombosis. Pregnancy loss (no other explanation) 10-34/40 or 3 losses (no explanation)

32

What group of people does anti-phospholid syndrome occur in?

Young women M:F 1:3.5

33

What are other non-diagnostic criteria features of anti-phospholipid syndrome?

Superficial thrombophlebitis and livedo reticularis
Mild/moderate thrombocytopenia
Neurological features – migraine, transverse myelitis
Libman-Sacks endocarditis
Catastrophic anti-phospholipid syndrome

34

What is the treatment of anti-phospholipid syndrome?

Thrombosis – lifelong anti-coagulation
Pregnancy loss – aspirin + LMWH during pregnancy
Attention to vascular risk factors

35

What is Sjogren's syndrome?

AI condition- lymphocyte infiltration of exocrine glands causing xerostomia and keratoconjunctivitis sicca. Can be 1'/2' to other AI conditions

36

What is the classification criteria for primary Sjogren's syndrome

4/6-immunology or biopsy evidence needed: ocular symptoms (daily >3 months), oral symptoms (daily >3 months), ocular dryness, salivary gland involvement, immunology-either Ro, La or both, biopsy evidence of lymphocytic infiltrate

37

What tests are used in diagnosing Sjogren's?

Schirmer test(ocular dryness), positive anti-Ro/La and typical features on lip gland biopsy

38

What other conditions can manifest in Sjogren's?

Fatigue
Arthralgia
Raynauds
Salivary swelling
Lymphadenopathy
Skin and vaginal dryness
Interstitial lung disease
Neuropathy
Lymphoma (x40 risk)
Renal tubular acidosis
Neonatal complete heart block (anti-Ro)

39

What is the M:F ratio of Sjogren's?

1:9

40

What is the treatment of Sjogren's?

Eye drops, punctal plugs
Saliva replacement
Pilocarpine
Hydroxychloroquine
Steroids and immunosuppression
Attention to cardiovascular risk factors

41

What is systemic sclerosis?

AI condition. Presents with vasculopathy- Raynaud's Syndrome, inflammation, fibrosis causing skin thickening

42

What are the 2 classes of systemic sclerosis?

Limited, diffuse

43

What are the features of limited systemic sclerosis?

Previously known as CREST- Calconosis, Raynauds, Esophageal dysmotility, Sclerodactyly, Telangiectasia. Pulmonary HT in 30%. Associated with anti-centromere antibodies

44

What are the features of diffuse systemic sclerosis?

Skin changes within 1 year of Raynaud’s
Truncal and acral skin involvement
Early significant organ involvement (kidneys, lungs, gut, muscle, joints, heart)
Anti-Scl-70 antibodies

45

What are the cutaneous features of systemic sclerosis?

Sclerodactyly, calcinosis, ulcerated fingertips, vasculitis

46

What are the GI manifestations of systemic sclerosis?

Oesophageal hypomobility
Small bowel hypomobility, bacterial overgrowth
Pancreatic insufficiency
Rectal hypomobility

47

What are the respiratory manifestations of systemic sclerosis?

Interstitial lung disease
Pulmonary hypertension
Chest wall restriction

48

What are the renal manifestations of systemic sclerosis?

Hypertensive renal crisis, ischaemic

49

What are the cardiovascular manifestations of systemic sclerosis?

Raynaud’s with digital ulceration
Atherosclerotic disease
Hypertensive cardiomyopathy

50

Who does systemic sclerosis commonly present in?

Age 25-55, M:F 1:4

51

What is the treatment for systemic sclerosis?

Calcium channel blockers
Prostacyclin (Iloprost)
ACE inhibitors
Prednisolone
Immunosuppression
Bosentan, Sildenafil

52

What is mixed connective tissue disease(MCTD)?

Mixed connective tissue disease has signs and symptoms of a combination of disorders — primarily lupus, scleroderma and polymyositis. Has major and minor criteria and can present with various combinations of them

53

What is undifferentiated connective tissue disorder?

‘Connective tissuish’ but usually don’t fit a particular syndrome
Usually a better prognosis
Would expect some antibody positivity

54

How is systemic sclerosis diagnosed?

Auto-antibodies associated include anti-centromere/Scl-70. Organ screening-includes PFT, echo and monitoring of renal function

55

What antibodies are associated with MCTD?

Anti-RNP

56

How is MCTD monitored?

Regular echocardiograms (annually) suggested due to risk of Pulmonary HT, screening for ILD with PFT should take place

57

How is MCTD managed?

Varies according to presentation, CCBs may help Raynauds. Immunosuppression if significant muscle or lung disease

58

What is anti-phospholipid syndrome (APS)?

A disorder than manifests clinically as recurrent venous or arterial thrombosis and/or fetal loss. Can occur in association with SLE or other rheumatic/AI condition