Connective Tissue Disorders

Question 1

What are the 4 questions to ask a patient you suspect of SLE (systemic lupus erythematosus)?

Answer 1

1. Extreme fatigue?
2. Mallar rash?
3. Recurring ulcers - oral or nasal?
4. Frontal balding/bald patches?

Question 2

Who is most likely to present with SLE?

Answer 2

Woman aged 20-30 yo (believed to be some connection with oestrogen)

Question 3

What antibody is used as a diagnostic tool in SLE?

Answer 3

ANA (anti nuclear antibodies)

Anti-dsDNA much more specific - preferred

Question 4

What antibody can be used as a monitoring tool in SLE?

Answer 4

Anti-dsDNA

Question 5

What is notable about the malar rash present in SLE?

Answer 5

It is photosensitive - worsens in sunlight

Question 6

Is a patient with SLE likely to present with monoarthritis?

Answer 6

No - polyarthritis

Question 7

What causes SLE?

Answer 7

A combination of genetics and environment

When cells become destroyed due to e.g. sunlight
Suspectible genetics programme for auto-cell attack meaning increased levels of nuclear antigens

Increased nuclear antigens -> increase ANA

Antigen-antibody complexes stick to endothelium and cause local inflam

Question 8

SLE is commoner in Afro-Caribbean populations. True or false?

Answer 8

True

Question 9

What drives disease in SLE?

Answer 9

Immune complex formation

Question 10

What is subacute cutaneous/discoid lupus?

Answer 10

Plaques in photosensitive regions similar to psoriatic plaques

Question 11

What kind of hypersensivity reaction is SLE?

Answer 11

Type III

Question 12

What is the name of the hand condition which presents as ulnar deviation but is reversible (can still flex hand if needs be)?

It is present in many connective tissue diseases esp. SLE

Answer 12

Jaccoud’s arthopathy

Question 13

What antibody is most specific to SLE?

Answer 13

Anti-dsDNA

anti- double stranded DNA

Question 14

What treatment will be given to all SLE?

Answer 14

Hydroxychloroquine - antimalarial drug

Factor 50 suncream at all times

Question 15

When would you consider upping medications for SLE?

What would you add?

Answer 15

If organ involvement

Minimal steroid use
Add immunosuppressants (similar to RA drugs) if not responding to hydroxychloroquine

Question 16

What is Sjogren’s syndrome?

Answer 16

Autoimmune condition characterised by lymphatic infiltrates in exocrine glands

Question 17

Who most commonly presents with Sjorgen’s syndrome?

Answer 17

Middle aged woman

Question 18

How would Sjogren’s syndrome present?

Answer 18

With dryness of body surfaces;

• dry eyes
• dry vagina (in pre-menopausal woman)
• dry mouth (xerostomia)
• nasal ulceration

Gland swelling and pain
Dysphagia

Question 19

What 3 things are done to diagnose Sjogren’s syndrome?

Answer 19

1. Lip biopsy
2. +ve anti-Ro, +ve anti-La antibodies (swollen face you could RoLa down the hill)
3. Ocular dryness test - Schirmer’s test

Question 20

How is Sjogren’s syndrome managed?

Answer 20

Symptomatically

• eye drops
• increased saliva production

Hydroxychloroquine - can prevent disease progression

Question 21

What does Sjogren’s syndrome put you at increased risk of?

Answer 21

Lymphoma

Question 22

What 4 questions should you ask a patient with suspected Sjogren’s syndrome?

Answer 22

In the last 3 months…

1. Waking up to drink water?
2. Eyes feel gritty?
3. Drink large volumes of water to swallow food?
4. Vaginal dryness in pre-menopausal women?

Question 23

What is the most important first test in SLE?

Why?

Answer 23

Urinaylsis

• often asymptomatic
• changes treatment pathway
• if kidney involvement means more severe disease

Question 24

What causes systemic scleorsis?

Answer 24

Excessive collagen production -> increased deposits in tissues

Question 25

How may a patient with systemic sclerosis present?

Answer 25

CREST

Calcinosis 
Raynauds 
Eosphgeal dysmotility -> GORD + dyspepsia 
Sclerodactyly
Telangiectasia 

+ organ dysfunction

• Lungs -> ILD + pul HTN
• Heart -> HTN
• kidneys -> glomerulonephritis

Question 26

What antibodies are assocaited with systemic sclerosis?

Answer 26

Anti-Scl-70 - diffuse (including organ involvement)

Anti-centromere - limited (CREST)

Question 27

How is systemic sclerosis managed?

Answer 27

Symptomatic management

Renal -> ACE
Lung (ILD) -> immunosuppressants
GORD -> PPIs
Raynauds -> CCB (nifedipine)

Question 28

What antibody is associated with MCTD?

Answer 28

anti-RNP

Question 29

What screening measure must patients with MCTD receive annually and why?

Answer 29

Echocardiogram - test for pulmonary HTN

Question 30

What is MCTD?

Answer 30

Mixed connective tissue disease

Present with symptoms of many kinds of connective tissue diseases

Question 31

What is livedo reticularis?

In what condition is it found?

Answer 31

net-like pattern of red/blue discolouration mainly on legs

Anti-phospholipid syndrome

Question 32

What CTD is associated with foetal loss + increased risk of MI/stroke at young age?

Answer 32

Anti-phospholipid syndrome

Question 33

What are the anti-phospholipid antibodies associated with anti-phospholipid sydrome?

Answer 33

Lupus anticoagulant

Anti-cardiolipin

Anti-beta2 glycoprotein

Question 34

What other CTD does anti-phospholipid syndrome often occur secondary to?

Answer 34

SLE

Question 35

What is the mainstay of treatment for anti-phospholipid syndrome?

Under what circumstances is this treatment not necessary?

Answer 35

lifelong warfarin (only if previous thrombotic event)

If not had previous episode of thrombosis

Question 36

Does a high or low complement level indicate active disease in SLE?

Answer 36

Low complement level -

Complement is consumed in the response to the formation of immune antigen/antibody complexes