Connective tissue diseases

Question 1

SLE definition (4)

Answer 1

a systemic autoimmune disorder
widespread deposition of immune complexes containing autoantigen and autoantibody
type III hypersensitivity
predilection for skin, joints, kidney

Question 2

What autoantibody is present in >95% of SLE patients?

Answer 2

ANA is present in >95% of SLE patients

Question 3

Explain the sensitivity and specificity of ANA for SLE

Answer 3

High sensitivity for SLE but low specificity for SLE

Question 4

SLE: epidemiology
Gender distribution
Ethnicity
Onset

Answer 4

SLE epidemiology
F:M 9:1
Afro-Caribbeans > Asian > White
young - 15-50 yo

Question 5

Classification criteria for SLE [11]

Answer 5

Malar rash
Discoid rash
Non-scarring alopecia
Oral/nasal ulcers
Synovitis
Serositis - pleurisy or pericarditis
Renal involvement
Neurological
Hematological 
Immunological
Lab criteria

Question 6

Name 2 renal features of SLE part of the classification criteria

Answer 6

Significant proteinuria

Cellular casts in urine

Question 7

Name 3 hematological features of SLE

Answer 7

Low WCC
Low platelets
Hemolytic anemia

Question 8

Scleroderma: epidemiology

Answer 8

F:M 3:1

Question 9

Scleroderma: onset

Answer 9

30-50 yo

Question 10

Scleroderma define

Answer 10

Chronic

Thickening and hardening of skin

Question 11

Name 3 types of scleroderma

Answer 11

Scleroderma morphea/ localized scleroderma
Limited cutaneous scleroderma (subtype CREST)
Diffuse systemic scleroderma

Question 12

Scleroderma morphea characteristics (3)

Prognosis and mortality

Answer 12

Localised patches of hardened skin - smooth and shiny
On trunk
No internal organ involvement
Good prognosis, low mortality

Question 13

CREST syndrome - affected areas (2)

What antibodies to test for [2]

Answer 13

Face, distal limbs
No trunk involvement or proximal limbs
Mild pulmonary HTN
ANA, Anti-Centromere antibody

Question 14

What is sclerodactyly [3]

Answer 14

localized thickening and tightness of skin of fingers/toes [1]
often leads to skin ulceration of distal digits, [1] commonly accompanied by atrophy of underlying soft tissues [1]

Question 15

Complications of
CREST syndrome [1]
Diffuse systemic [3]

Answer 15

Pulmonary hypertension

Diffuse systemic

1. Pulmonary hypertension and fibrosis
2. Small bowel bacterial overgrowth
3. Renal crisis

Question 16

Diffuse systemic scleroderma
Affected areas
Progression
Autoabs to test for [2]

Answer 16

Affected areas: trunk and proximal limbs
Rapidly progressive
Progressing to organs e.g. kidney, heart, lungs, GIT
ANA, Anti-SCL70

Question 17

Treatment of scleroderma
Symptomatic [4]
Diffuse [1]

Answer 17

Symptomatic:

• Raynaud’s: CCB, sildenafil
• Myositis: CCS
• Renal crisis: ACEI
• Cardiac: anti-arrhythmic

Diffuse:
- late stage pencillamine

Question 18

Sjogren’s syndrome
Epidemiology - gender
Onset

Answer 18

F:M 9:1

Onset - 40-50 yo

Question 19

Clinical features of Sjogren’s syndrome

Answer 19

Dry eyes, mouth
Parotid gland enlargement
Systemic symptoms: fatigue, fever, myalgia, arthralgia

Question 20

Ix Sjogren’s [2]

Lab diagnostic tests [2]

Answer 20

Schirmer's test - to measure tear production
Minor salivary gland biopsy
Lab:
ANA, Anti-Ro, Anti-La
RF positive

Question 21

Autoimmune myositis
Prevalence
2 types

Answer 21

Rare as it is 6 per million incidence
Polymyositis
Dermatomyositis

Question 22

Autoimmune myositis

Characteristics of muscle weakness (3)

Answer 22

Muscle weakness in autoimmune myositis is symmetrical, diffuse, proximal

Question 23

Autoimmune myositis

Characteristics of dermatomyositis (5)

Answer 23

Gottron's papules - scaly rash over MTP joints
Heliotrope rash
Shawl's sign
Nail fold erythema
Subcut calcifications

Question 24

Autoimmune myositis

Investigations [4]

Answer 24

Muscle enzymes: CK, AST, ALT, LDH, aldolase (elevated)
Immunology: ANA (+ve), anti-Jo1 antibodies (+ve)
EMG: characteristic fibrillation potentials
Muscle biopsy: confirms dx and excl. other dx
MRI: oedema in acute myositis

Question 25

Giant cell arteritis ACR criteria for classification for GCA What are the 5 criteria

Answer 25

1. Age at onset 50 years or more 2. New onset localized headache - unilateral 3. Temporal artery tenderness - reduced pulsation 4. ESR more or equal to 50 5. Abnormal temporal biopsy

Question 26

Giant cell arteritis: Treatment [3]

Answer 26

prednisolone + low dose aspirin | methylprednisolone - 20% stronger

Question 27

Complications of giant cell arteritis

Answer 27

Loss of vision - irreversible

Question 28

Autoimmune myositis complications (2)

Answer 28

Cancer -May be paraneoplastic phenomenon so screen for cancers Interstitial lung disease

Question 29

Name 4 neurological features of SLE as part of its classification

Answer 29

Seizures, psychosis, myelitis, peripheral neuropathy

Question 30

Lab criteria for SLE as part of its classification

Answer 30

``` ANA □ Anti-dsDNA □ Anti-Sm □ Low complement □ APS Positive DCT ```

Question 31

Two other investigations to do for SLE

Answer 31

ESR high, CRP normal | BP

Question 32

Drug induced lupus | Which organ systems are more commonly involved? [2]

Answer 32

Skin and lung signs are more common | Renal and CNS rarely affected

Question 33

Management SLE [6]

Answer 33

``` High factor sunblock Hydroxychloroquine Topical steroids NSAIDs unless renal disease Steroid sparing agents Biologic ```

Question 34

Management SLE Name 3 steroid sparing agents Name 1 biologic used in maintenance 4 Rx for severe flares

Answer 34

``` Azathioprine Methotrexate Mycophenolate Biologic: belimumab Severe flares: - Urgent high dose steroids - Mycophenolate - Rituximab - Cyclophosphamide ```

Question 35

Management of lupus nephritis [3]

Answer 35

Steroid sparing agents - step up Renal replacement therapy Renal transplant

Question 36

Mixed CTD | Lab test [1]

Answer 36

Anti-u1RNP

Question 37

``` APS Recurrent miscarriages are a common feature Autoabs to test for [3] CLOT Rx [1] ```

Answer 37

Anti-cardiolipin ab, lupus anticoagulant ab, anti-beta2 glycoprotein1 Coagulation defect Livedo reticularis Obstetric - recurrent misc Thrombocytopenia Rx: lifelong warfarin + aspirin

Question 38

Autoimmune myositis mx [3]

Answer 38

Prednisolone Hydroxychloroquine Topical tacrolimus