Connective Tissue Disease 2

Question 1

Define the diagnosis of anti-phospholipid syndrome?

Answer 1

+ve anti-cardiolipin (anti-phospholipid) antibodies

AND/OR

Lupus anti-coagulant activity

AND/OR

Anti-β2-glycoprotein

…on 2 occasions at least 12 weeks apart

Question 2

Signs of anti-phospholipid syndrome in pregnant women?

Answer 2

Pregnancy loss with no other explanation

Pre-term with because of eclampsia

Severe pre-eclampsia

Signs of placental insufficiency

Question 3

Occurrence of anti-phospholipid syndrome?

Answer 3

More common in women

Question 4

Anti-cardiolipin antibodies in anti-phospholipid syndrome?

Answer 4

30% of people with SLE have these and they may occur in other CTDs; also, some of the healthy population have these

Question 5

Other features of anti-phospholipid syndrome?

Answer 5

Superficial thrombophlebitis and livedo reticularis

Mild/moderate thrombocytopaenia

Neurological features, like migraines, transverse myelitis, etc

Libman-Sacks endocarditis (sterile vegetations)

Catastrophic anti-phospholipid syndrome

Question 6

Describe catastrophic anti-phospholipid syndrome

Answer 6

Widespread thrombosis that may occur when warfarin is withdrawn, e.g: for surgery

Question 7

What is Sjorgen’s syndrome?

Answer 7

Autoimmune condition where there is lymphocyte infiltration of EXOCRINE GLANDS, causing xerostomia (dry mouth, dental problems) and keratoconjunctivitis sicca (dryness of conjunctiva)

It may be primary or secondary to other conditions

Question 8

Classification criteria for primary Sjogren’s syndrome?

Answer 8

• Subjective ocular symptoms (daily for > 3 months)
• Subjective oral symptoms (daily for > 3 months)
• Objective evidence of ocular dryness
• Objective evidence of salivary gland involvement
• Immunology – either Ro, La or both
• Biopsy evidence of lymphocytic infiltrate

4/6 are requires and must inc. either immunology or biopsy evidence

Question 9

Describe the Schirmer test for Sjogren’s syndrome

Answer 9

Filter paper folded over the lower eyelid; it is left for 5 minutes and should normally have collected 10 ml of tears

Question 10

Other manifestations of Sjogren’s syndrome?

Answer 10

Fatigue and arthralgia

Raynauds

Salivary swelling

Lymphadenopathy and 40X increased risk of lymphoma

Skin and vaginal dryness

Interstitial lung disease

Neuropathy

Renal tubular acidosis

Neonatal complete heart block (assoc. with anti-Ro)

Question 11

Occurrence of primary Sjogren’s syndrome?

Answer 11

Peak age between 40-60 but most are undiagnosed cases; more common in females (9:1)

Question 12

Occurrence of complications in Sjogren’s?

Answer 12

Serious comps. are very rare compared to other CTDs

Question 13

Treatment of Sjogren’s?

Answer 13

Eye drops and punctal plugs

Saliva replacement

Pilocarpine (increases saliva production)

Hydroxychloroquine (for joint problems)

Steroids and immunosuppression

Attention to CV risk factors

Question 14

What is systemic sclerosis?

Answer 14

Autoimmune vasculopathy; there is inflammation and fibrosis (excess collagen deposition in skin and internal organs)

Previously knows as CREST syndrome but renamed as this did not inc. pulmonary hypertension

Question 15

What does CREST stand for?

Answer 15

Calcinosis
Raynaud's phenomenon
oEsophageal dysmotility
Sclerodactyly - shiny skin (lips pucker and check how much their mouth opens)
Telangiectasia

Question 16

Types of systemic scleroderma?

Answer 16

Systemic sclerosis is rheumatology; localised is dermatology

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Question 17

Antibodies in systemic sclerosis?

Answer 17

Assoc. with anti-centromere antibodies

Question 18

Describe diffuse systemic sclerosis

Answer 18

Skin changes within 1 year of Raynaud’s

Truncal and acral skin inv.

Early significant organ inv. (like kidneys, gut, lungs, muscle, joints, heart)

Entirety of skin looks like it is made of leather

Question 19

What antibodies are assoc. with diffuse systemic sclerosis?

Answer 19

Anti-Scl-70 antibodies

Question 20

Other features of systemic sclerosis?

Answer 20

Nail fold infarcts

Question 21

GI manifestation of systemic sclerosis?

Answer 21

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

Question 22

Respiratory manifestation of systemic sclerosis?

Answer 22

• Interstitial lung disease
• Pulmonary hypertension
• Chest wall restriction

Question 23

Renal manifestations of systemic sclerosis?

Answer 23

• Hypertensive renal crisis

* Ischaemic

Question 24

Cardiovascular manifestations of systemic sclerosis?

Answer 24

• Raynaud’s with digital ulceration
• Atherosclerotic disease
• Hypertensive cardiomyopathy

Question 25

Occurrence of systemic sclerosis?

Answer 25

Peak age of 25-55 years; more common in women (4:!)

Question 26

Testing for systemic sclerosis?

Answer 26

Often creatinine, GFR and BP are more useful than urinalysis

Question 27

Treatment of systemic sclerosis?

Answer 27

• Calcium channel blockers
• Prostacyclin (PG that causes vasodilatation) for Raynaud’s
• ACE inhibitors for Raynaud’s or BP
• Prednisolone
• Immunosuppression
• Bosentan, Sildenafil (vasodilators) for pulmonary hypertension

Question 28

What is mixed connective tissue disease (MCTD)?

Answer 28

Signs and symptoms of a combination of disorders — primarily lupus, scleroderma and polymyositis

Question 29

What is undifferentiated connective tissue disorder?

Answer 29

“Connective tissuish” but does not usually fit a part. syndrome; tends to have a better prognosis

Expect some antibody positivity

Question 30

Summary of antibodies for different connective tissue diseases?

Answer 30

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