Connective Tissue Diseases

Question 1

Connective Tissue diseases (5)

Answer 1

Systemic Lupus Erythematous
Sjogren's Disease
Systemic Sclerosis
Mixed connective tissue disease
Anti-phospholipid syndrome

Question 2

Systemic Lupus Erythematous

Answer 2

Chronic Autoimmune Condition

Question 3

SLE Epidemiology

Answer 3

Females
20-30
Afro-carribeans

Question 4

SLE Pathophysiology

Answer 4

1. Defect in apoptosis
2. Increased cell death
3. Disturbance in immune tolerances
4. Defective clearance of cell debris
5. Persistence of antigen and subsequent immune complex formation
6. Immune complexes deposited. in small vessels or in the basement membranes of the skin and kidneys causing complement activation and inflammation

Question 5

SLE Organ Involvement

Answer 5

Any organ System

Renal
-Lupus nephritis

Respiratory

• Pleurisy
• Pneumonitis
• Pulmonary Effusion
• Pulmonary hypertension
• Interstitial lung disease

Haematological

• leukopenia
• lyphopenia
• anaemia
• thrombocytopenia

Neuropsychiatric

• seizures
• psychosis
• headaches
• aseptic meningitis

GI

• Autoimmune hepatitis
• pancreatitis
• mesenteric vasculitis

Cardio

• Pericarditis
• Myocarditis
• Pericardial effusion
• Accelerated ischaemic heart disease

Question 6

SLE symptoms

Answer 6

weight loss
fever 
fatigue
arthralgia 
myalgia
inflammatory arthritis
avascular necrosis
malar rash
photosensitivity
discoid lupus
oral/ nasal ulceration 
Raynauds 
Alopecia

Question 7

SLE Investigations

Answer 7

FBC
ANA
Anti-DsDNA
Anti-SM
Anti-Ro
Anti-La
Anti-RNP
Low C3/ C4 levels 
Urinalysis (look for glomerulonephritis)

Question 8

SLE Screening

Answer 8

CT Chest

mRI
- For cerebral vasculitis

Echo
- for heart abnormalities

Question 9

SLE treatment

Answer 9

Skin disease and arthralgia

• hydroxychloroquine
• topical steroids
• NSAIDs

Inflammatory arthritis or systemic organ involvement

• Immunosuppression (azathioprine/ mycophenolate mofetil)
• Corticosteroids

Severe organ involvement

• cyclophosphamide
• IV steroids

Unresponsive
- IV immunoglobulin (rituximab)

Question 10

Sjogren’s Disease

Answer 10

Autoimmune condition characterised by lymphocyte infiltrates in exocrine organs

Question 11

Sjogrens disease symptoms

Answer 11

Sicca

• ocular dryness
• mouth dryness

Arthralgia
fatigue
vaginal dryness
parotid gland swelling

Question 12

Sjogrens disease associations

Answer 12

Peripheral neuropathy
interstitial lung disease
increased risk of lymphoma

Question 13

Sjogren’s disease diagnosis

Answer 13

Ocular dryness
- Schimers test

+ve anti-Ro and anti-La antibodies

Typical features on lip gland biopsy

Question 14

Sjogren’s disease treatment

Answer 14

Lubricating eye drops

Pilocarpine

• Saliva replacement
• flushing is a side effect

hydroxychloroquine
Immunosuppression

Question 15

Systemic Sclerosis

Answer 15

Systemic connective tissue disease

Question 16

Systemic sclerosis characteristics

Answer 16

Vasomotor disturbances- Raynauds

Fibrosis and. subsequent atrophy of the skin and subcutaneous tissue

Excessive collagen deposition can cause skin and internal organ changes

Renal and lung changes

• pulmonary hypertension
• main cause of death in systemic sclerosis patients

Question 17

Systemic Sclerosis Phases

Answer 17

Oedematous
Indurative
Atrophic

Question 18

Systemic Sclerosis Features

Answer 18

Major
- Centrally located skin lesions that affect the arms, face and neck

Minor

• Sclerodactyly
• Atrophy of fingertips
• Bilateral lung fibrosis

Diagnosis needs 1 major and 2 minor

Question 19

Systemic sclerosis symptoms

Answer 19

Pinching of the skin around nose
- Beaking

Tightening of skin

Telengectasia

Calcinosis of digits
-subcutaneous deposits of calcium

Question 20

Systemic Sclerosis Systems Affected

Answer 20

Respiratory

• Pulmonary hypertension
• Fibrosis

Cardio
- Hypertension

Renal
- Failure due to hypertension

GI

• Dysphagia
• Malabsorption
• Bacterial overgrowth

MSK
-Inflammatory arthritis

Question 21

Systemic Sclerosis Types

Answer 21

Limited

• Anti centromere antibody
• Skin involvement generally limited to face, hands and forearms
• Organ involvement occurs later

Diffuse

• Anti Scl-70 antibody
• Skin changes come rapidly and tend to affect more areas including the trunk and arms
• Significant early organ involvement

Question 22

SLE Organ Screening

Answer 22

Pulmonary function tests
Echo
monitoring of renal function

Question 23

SLE Treatment

Answer 23

Raynauds

• CCB
• Iloprost
• Bosentan
• Slidenophil

Renal Involvement
-ACE Inhibitors

ILD
- Cyclophosphomide

Question 24

Mixed Connective Tissue Disease Antibody

Answer 24

Anti-RNP

Question 25

Mixed Connective Tissue Disease Screening

Answer 25

Echo | Pulmonary Function Tests

Question 26

Anti-Phospholipid Syndrome Characteristics

Answer 26

Recurrent venous or arterial thrombosis | Fetal loss after 10 weeks)

Question 27

Anti-Phospholipid Syndrome aetiology

Answer 27

Can occur secondary to SLE

Question 28

Anti-phospholipid syndrome complications

Answer 28

Increased frequency of stroke and MI (secondary in-situ thrombosis or embolisation from vascular lesions off limban-sacks endocarditis) Pulmonary hypertension (recurrent pulmonary emboli) Catastrophic APS (multi organ failure over a period of days to weeks) livedo reticularis

Question 29

Anti-Phospholipid investigations

Answer 29

Blood Tests. - aPTT - Thrombocytopenia - antibodies (ANti-cardiolipin, lupus anticoagulant, anti-beta2 glycoprotein)

Question 30

Anti-phospholipid treatment

Answer 30

Thrombosis - Warfarin Thrombosis during pregnancy - LMWH