Connective Tissue Disorders

Question 1

What is antiphospholipid syndrome (APS)?

Answer 1

Autoimmune disease

Causes increased risk of blood clotting

Question 2

What are lab findings of people with APS?

Answer 2

+ve anti-cardiolipin antibodies
Lupus anticoagulant activity
Anti-beta2 glycoprotein

Question 3

What are haematological findings of people with APS?

Answer 3

Arterial/venous thrombosis

Question 4

What are reproductive signs of people with APS?

Answer 4

Spontaneous loss 10-34/40
OR
3 spontaneous losses

Question 5

Are anti-cardiolipin antibodies only found in people with APS?

Answer 5

No

found in 1-5% of healthy people

Question 6

Give 5 other features of APS

Answer 6

Livedo reticularis
Thrombocytopenia
Migraine
Liebman-Sachs endocarditis
Catastrophic APS

Question 7

How is APS treated?

Answer 7

Life long anticoagulation

- warfarin

Question 8

How is APS treated in pregnant women?

Answer 8

Aspirin + LMW heparin

- warfarin is teratogenic

Question 9

What is Sjogren’s syndrome?

Answer 9

Autoimmune condition
Lymphocyte infiltration of exocrine glands
Causes sicca disorders (e.g. xeromastia, keratoconjunctivitis)

Question 10

Name the objective test for ocular dryness. Describe.

Answer 10

Schirmer test

Filter paper placed beneath water line. Positive result if

Question 11

Which antibodies come up positive in people with Sjogrens?

Answer 11

Anti Ro and La

SSA and SSB

Question 12

What does a biopsy check for in Sjogrens?

Answer 12

Lymphocytic infiltrate of exocrine glands

Question 13

Name 4 other manifestations of Sjogrens

Answer 13

Arthralgia
Fatigue
Skin and vaginal dryness
Parotid gland swelling

Question 14

What is the peak age of develepment of primary Sjogrens syndrome?

Answer 14

40-60

Question 15

What is the gender distribution of the prevalence of Sjogrens?

Answer 15

M:F
1:9

Question 16

How is Sjogrens’ syndrome treated?

Answer 16

Eye drops
Saliva replacement /
Pilocarpine (saliva stimulant)
Hydroxychloroquine (joint pain and fatigue)
Steroids only for serious complications, which are v rare

Question 17

What is Systemic Sclerosis?

Answer 17

Autoimmune condition

Fibroblast overactivity leads to overgrowth of connective tissue -> fibrosis + vasculopathy

Question 18

Give 2 examples of Localised Scleroderma

Answer 18

Morphoea

Linear Scleroderma

Question 19

Give 3 examples of

Diffuse Scleroderma

Answer 19

Limited Systemic sclerosis
Diffuse systemic sclerosis
Systemic sclerosis sine scleroderma

Question 20

List the 6 key features of Limited Systemic sclerosis

CREST + P

Answer 20

Calcinosis
Raynaud's
Eosophageal dysmotility
Sclerodactyly
Telangectasia
Pulmonary hypertension

Question 21

Which antibody is found in people with Limited Systemic sclerosis

Answer 21

Anti-centromere antibodies

Question 22

Which areas of the body are commonly affected by Limited systemic sclerosis?

Answer 22

Face
Hands
Forearms
Feet

Question 23

What are the 4 key features of Diffuse systemic sclerosis?

Answer 23

Skin changes within a year of Raynauds
Trunk and acral skin involvment
Early significant organ involvement

Question 24

Which antibody is found in people with Diffuse systemic sclerosis?

Answer 24

Anti-Scl-70 antibodies

Question 25

What is the peak age of development of systemic sclerosis?

Answer 25

25-55

Question 26

How are the sexes affected by systemic sclerosis?

Answer 26

M:F 1:4

Question 27

How is Raynauds (associated with systemic sclerosis) treated?

Answer 27

Calcium channel blockers iloprost Bosentan

Question 28

How is renal impairment (associated with systemic sclerosis) treated?

Answer 28

ACE inhibitors

Question 29

How are GI symptoms (associated with systemic sclerosis) treated?

Answer 29

PPIs (against reflux)

Question 30

How is interstitial lung disease (associated with systemic sclerosis) treated?

Answer 30

Immunosuppression | - cyclophosphamide

Question 31

What is Mixed Connective Tissue Disease (MCTD)?

Answer 31

A condition whose features / symptoms are also seen in other connective tissue diseases

Question 32

List the major criteria for diagnosing MCTD

Answer 32

``` Myositis Pulmonary involvement Raynaud's phenomenon Sclerodactyly Swollen hands ```

Question 33

Which antibody is associated with the presence of MCTD?

Answer 33

Anti-RNP

Question 34

What is polyarteritis nodosa (PAN)?

Answer 34

Unknown aetiology | Inflammation and fibrinoid necrosis of small/med arteries

Question 35

Which major organs are tageted by PAN?

Answer 35

Kidneys Heart Liver GIT

Question 36

What are the clinical features of PAN?

Answer 36

Non-specific organ features - hypertension - haematuria - abdominal pain - melaena - diarrhoea

Question 37

How is PAN diagnosed?

Answer 37

Biopsy | Serum: pANCA +ve