Connective Tissue Disease

Question 1

Who most commonly gets SLE?

Answer 1

Women (90%)
Usually presents age 20-30
More common and more severe in Afro-Caribbean, Hispanic American, Asian and Chinese

Question 2

Which organs are most commonly affected by SLE?

Answer 2

Skin
Joints
Kidneys
Blood cells
Nervous system

Question 3

What are the constitutional features of SLE?

Answer 3

fever
fatigue
weight loss

Question 4

What are the musculoskeletal features of SLE?

Answer 4

Arthralgia, myalgia
Arthritis - synovitis/tenderness of at least 2 joints with early morning stiffness > 30 mins, non erosive (Jaccoud arthropathy)

Question 5

What are the mucocutaneous features of SLE?

Answer 5

Malar/butterfly rash
Photosensitivity
Discoid lupus
Subacute cutaneous lupus
Oral/nasal ulceration 
Raynaud's phenomenon
Alopecia

Question 6

What are the renal features of SLE and how are they diagnosed?

Answer 6

Lupus nephritis

• proteinuria > 0.5g in 24 hours
• red cell casts on renal biopsy

Question 7

Which cardiorespiratory features may be seen in SLE?

Answer 7

Pleural or pericardial effusion

Acute pericarditis

Question 8

Which haematological features are seen in SLE?

Answer 8

Leukopenia
Thrombocytopenia
Haemolytic anaemia
Lymphadenopathy

Question 9

Which neuropsychiatric features are seen in SLE?

Answer 9

Delirium
Psychosis
Seizures
Headache
Cranial nerve disorders

Question 10

Which investigations should be done for suspected SLE?

Answer 10

FBC (anaemia, leukopenia, thrombocytopenia)
Autoantibodies
C3 + C4
Urinalysis
Imaging for specific organ involvement

Question 11

Which autoantibodies may be positive in SLE?

Answer 11

ANA
Anti-dsDNA
Anti-Sm
Anti-Ro
Anti-La
Anti-RNP
Antiphospholipid antibodies

Question 12

Which autoantibody is most specific for SLE?

Answer 12

Anti-dsDNA (but varies with disease activity)

Question 13

How is complement affected in SLE?

Answer 13

C3 and C4 are low when disease is active, especially in renal and haematological disease

Question 14

What is the first line drug management for SLE?

Answer 14

Hydroxychloroquine + topical steroids + NSAIDs

Question 15

Which score is used to monitor disease activity in SLE?

Answer 15

SLEDAI score

Question 16

What monitoring should be done in a patient with SLE?

Answer 16

Monitor anti-dsDNA + complement as they vary with disease activity
Urinalysis for nephritis
Evaluate/manage CVD risks as this is major cause of mortality

Question 17

What are the clinical features of sjogren’s syndrome?

Answer 17

Dry eyes and mouth (sicca symptoms)
Gritty feeling in eyes
Vaginal dryness
Bilateral parotid enlargement
Joint pain
Fatigue
Unexplained increase in dental caries

Question 18

Risk of which cancer is increased in sjogren’s syndrome?

Answer 18

Lymphoma

Question 19

How is Sjogren’s syndrome diagnosed?

Answer 19

Clinical features
Schirmer’s test –> confirm ocular dryness
+ve anti-Ro and anti-La

Question 20

What is the management for Sjogren’s syndrome?

Answer 20

Symptomatic:
- eyedrops + saliva replacement
- pilocarpine to stimulate saliva production (causes flushing)
Dental care
Hydroxychloroquine may help with arthralgia and fatigue

Question 21

Which antibodies are associated with mixed connective tissue disease?

Answer 21

Anti-RNP antibodies

Question 22

What are the clinical features of anti-phospholipid syndrome?

Answer 22

Recurrent venous or arterial thrombosis +/- foetal loss 
Stroke/MI in young patients
Libman Sacks (sterile) endocarditis
Recurrent PE --> severe pulmonary HTN
Migraine
Livedo reticularis

Question 23

What is Livedo reticularis?

Answer 23

Mottled, lace-like discolouration on skin

Question 24

Which investigations should be done for suspected anti-phospholipid syndrome?

Answer 24

Bloods: thrombocytopenia + prolonged APTT
Anti-phospholipid antibodies:
- lupus anticoagulant
- anti-cardiolipin
- anti-beta 2 glycoprotein

Question 25

What is the management for anti-phospholipid syndrome?

Answer 25

Anticoagulation (do not need to treat if +ve antibodies but no episode of thrombosis)
If recurrent miscarriage –> LMWH during pregnancy (warfarin is teratogenic)

Question 26

What is another name for systemic sclerosis?

Answer 26

Scleroderma

Question 27

What are the classic symptoms in systemic sclerosis?

Answer 27

Raynaud's (almost always)
Skin thickening and tightening
Dysphagia
GORD
SOB
Telangiectasis
Calcinosis (SC calcium deposits in fingers)
Sclerodactyl

Question 28

How is systemic sclerosis classified?

Answer 28

Diffuse cutaneous SSc:
- skin involvement on extremities above AND below elbows and knees (+ face + trunk)

Limited cutaneous SSc:
- skin involvement only below elbows + knees on extremities (+ face)

Question 29

Which antibodies are associated with diffuse systemic sclerosis?

Answer 29

Anti-Scl-70

Question 30

Which antibodies are associated with limited systemic sclerosis?

Answer 30

Anti-centromere

Question 31

Which facial features are seen in systemic sclerosis?

Answer 31

Small puckered mouth
Beaked nose
Lack of wrinkles
Telangectasia

Question 32

Apart from skin, which other clinical features may be seen in systemic sclerosis?

Answer 32

Pulmonary HTN, pulmonary fibrosis + accelerated HTN –> renal crisis
Dysphagia, malabsorption + bacterial overgrowth of small bowel
Inflammatory arthritis and myositis

Question 33

How is Raynaud’s/digital ulcers managed in systemic sclerosis?

Answer 33

CCBs –> nifedipine first line

Others: fluoxetine, ARBs, nitrates, iloprost, bosentan

Question 34

How is a renal crisis treated in systemic sclerosis?

Answer 34

ACE inhibitors

May need dialysis

Question 35

How is pulmonary hypertension treated in systemic sclerosis?

Answer 35

PDE5 inhibitor e.g. Sildenafil
Bosentan
Oxygen

Question 36

How is interstitial lung disease managed in systemic sclerosis?

Answer 36

Mycophenolate mofetil or cyclophosphamide