Connective Tissue Disorders

Question 1

What is systemic lupus erythematosus?

Answer 1

An autoimmune multi-system disorder, where there is an increase in classical complement deficiencies.

Question 2

What is the epidemiology surrounding SLE?

Answer 2

There is a higher incidence in females, and in afro-Caribbean communities.

Question 3

What are the signs and symptoms of SLE?

Answer 3

SOAP BRAIN MD

• Serositis
• Oral ulcers
• Arthritis
• Photosensitivity
• Blood disorders
• Renal impairment
• ANA +ve
• Immune phenomena
• Neurological symptoms
• Malar rash
• Discoid rash

Question 4

How is a diagnosis of SLE made?

Answer 4

Having any 4 out of the 11 symptoms on SOAP BRAIN MD

Question 5

What autoantibodies can be found in SLE?

Answer 5

Anti-nucear antibodies (90%)

• Anti-dsDNA
• Anti-Smith (most specific, but not sensitive)

If drug-induced: anti-histone (hydralazine medication for BP)

Question 6

What can cause SLE?

Answer 6

Either:

• Autoimmune complexes
• Drug induction

Question 7

What histological features can be seen in SLE?

Answer 7

• LE bodies
• Libman-Sacks Endocarditis
• Onion skin lesions (spleen)

Question 8

What is systemic scleroderma?

Answer 8

This is a connective tissue disease involving tightening of the skin. It can be either limited or diffuse, both are auto-immune multi-system disorders.

Question 9

What are the signs and symptoms of systemic scleroderma?

Answer 9

Limited:
- Skin changes occur on face and distal to elbows and knees
- Associated with pulmonary hypertension
CREST:
- Calcinosis
- Raynaud's
- Oesophageal dysmotility
- Sclerodactyly
- Telangiectasia

Diffuse:

• Skin changes occur anywhere (including trunk)
• Associated with pulmonary fibrosis

Question 10

What autoantibodies are involved in systemic scleroderma?

Answer 10

Limited:
- Anti-centromere

Diffuse:
- Anti-topoisomerase (Anti-Scl-70)

Question 11

What is the term for localised scleroderma?

Answer 11

Morphoea

Question 12

What is the histology associated with systemic scleroderma?

Answer 12

Limited:

• Increased collagen in skin and organs
• Onion thickening of arterioles

Diffuse:
- Inflammation within and around muscle fibres

Question 13

What is HLA association of SLE?

Answer 13

HLA - DR3 (or 2)

Question 14

What is the HLA association of systemic scleroderma?

Answer 14

HLA - DR5 and DRw8

Question 15

What is polymyositis and dermatomyositis?

Answer 15

These are autoimmune inflammatory conditions of the muscle (and skin if dermatomyositis).

They are usually associated with an underlying malignancy.

Question 16

What are the signs and symptoms of polymyositis/dermatomyositis?

Answer 16

• Proximal muscle weakness

Dermatomyositis:

• Heliotrope rash
• Gottron papules

Associated with pulmonary fibrosis

Question 17

What enzymes would be elevated in polymyositis/dermatomyositis? What other investigation would be abnormal?

Answer 17

CK enzymes

An EMG would be abnormal

Question 18

What autoantibody is associated with polymyositis/dermatomyositis?

Answer 18

Anti-Jo-1

Question 19

How can you classify vasculitides?

Answer 19

By the size of the vessels they affect:

• Large vessel
• Medium vessel
• Small vessel

Question 20

Name some large vessel vasculitides. Describe them.

Answer 20

Takayasu’s Arteritis

• ‘Pulseless’ disease
• No pulse, bruits, claudication
• Higher in Japanese women

Temporal Arteritis

• Headache with: scalp tenderness, jaw claudication, vision symptoms
• Raised ESR
• Histo: skip lesions, giant cells
• Over 50s only

Question 21

Name some medium vessel vasculitides. Describe them.

Answer 21

Polyarteritis Nodosa

• Renal involvement mainly
• 30% have associated HepB infection
• Beed like appearance to angiogram

Kawasaki’s Disease

• Affects children <5
• 5 day cough, red hands and feet, swollen lips, mouth or tongue, conjunctivitis

Thromboangitis Obliterans (Buerger’s)

• Heavy smokers, usually under 35
• Inflammation of arteries in extremities
• Corkscrew appearance on angiogram

Question 22

Name some small vessel vasculitides. Describe them.

Answer 22

Granulomatosis with polyangiitis (Wegener’s)

• Triad:
• URT: sinusitis, saddle nose
• LRT: pulmonary haemorrhage
• Kidneys: glomerulonephritis
• cANCA positive (anti-PR3)

Eosniophilic granulomatosis with polyangiitis (CHurg-Straus)

• Asthma
• Eosinophilia
• Vasculitis symptoms
• pANCA positive (anti-MPO)

Microscopic polyangiitis

• Pulmonary haemorrhage
• Glomerulonephritis
• pANCA

Henoch-Schonlein Purpura

• Children <10
• IgA mediated vasculitis
• Preceding URTI
• Palpable purpuric rash (lower limbs and buttocks)
• Glomerulonephritis, abdominal pain, arthritis, orchitis

Question 23

What is sarcoidosis?

Answer 23

A multi-system disease of unknown cause, characterised by non-caseating granulomas

Question 24

What is the epidemiology surrounding sarcoidosis?

Answer 24

• Affects young adults
• Higher in afro-Caribbean
• Higher in women

Question 25

What are the signs and symptoms of sarcoidosis?

Answer 25

Lungs:

• Most commonly involved
• Insidious SOB, cough, chest pain and night sweats

Extrapulmonary:

• Skin: erythema nodosum, lupus pernio, skin nodules
• LNs: lymphadenopathy, rubbery and non-tender
• Joints: arthritis, bone cysts
• Eyes: uveitis
• Liver/spleen: hepatosplenomegaly
• Blood: cytopaenia
• Hypercalcaemia
• Heart: cardiomyopathy
• CNS involvement
• Malaise, weight loss, fevers

Question 26

What investigations would you perform on sarcoid patients? What would the results show?

Answer 26

Bloods:

• High calcium
• High ESR
• High ACE
• Hypergammaglobulinaemia

X-Ray:
- Bilateral hilar lymphadenopathy

Biopsy:
- Non-caseating granuloma