Connective Tissue Disease

Question 1

What is systemic lupus erythematosus and its classical presentation?

Answer 1

It is an autoimmune disease which classically has a combination of systemic upset (fever, myalgia, fatigue and weight loss) and joint/skin involvements.
Flare ups can be triggered by oestrogen containing medicine, sunlight, infections and stress.
More common in females

Question 2

What are the different cutaneous manifestations of lupus?

Answer 2

Cutaneous lupus doesn’t always mean person hase SLE. The different cutaneous manifestations are:
- Acute cutaneous lupus erythematosus,
- Subacute cutaneous lupus erythematosus,
- Discoid lupus,
- Discoid lupus confined to head and neck.
- SLE can present with malar rash (in butterfly distribution), discoid rash, photosensitivity and ulcers in mouth/nose

Question 3

Explain the MSK involvement in SLE

Answer 3

• Non-erosive arthritis or arthralgia, eg, Jaccoud’s arthropathy. Usually polyarthritis which can be symmetrical/asymmetrical.
• Avascular necrosis,
• Fibromyalgia,
• Osteoporosis

Question 4

Explain the renal presentation of SLE

Answer 4

• Lupus nephritis (common cause of SLE related death)
• Needs monitoring via regular BP checks, urinalysis for protein and haematuria and U&E’s. A rise in double strand DNA can predict an oncoming flare and need for more careful monitoring.

Question 5

What is the pulmonary presentation of SLE?

Answer 5

• Most commonly pleurisy followed by pleural effusions.
• Acute pneumonitis,
• Diffuse alveolar haemorrhage,
• Pulmonary hypertension,
• Shrinking lung syndrome

Question 6

What is the cardiovascular presentation of SLE?

Answer 6

• Most commonly pericarditis +/- effusion,
• Myocarditis,
• Valvular abnormalities,
• Coronary heart disease,
• Reynaud’s phenomenon

Question 7

What is the neuropsychiatric presentation of SLE and the appropriate investigations?

Answer 7

• Headache (extreme and not relieved by analgesia),
• Anxiety and mood disorder or psychiatric conditions,
• Seziure,
• Demyelination,
• Mononeuritis
• Investigate via EEG, MRI, LP, psych evaluation and anti-ribosomal P which is associated with mood disorders.

Question 8

What is the haematological presentation of SLE?

Answer 8

• Anaemia of chronic disease,
• Lymphopenia,
• Autoimmune haemolytic anaemia,
• Thrombotic thrombocytopenic purpura
• Leukopenia,
• Lymphadenopathy and splenomegaly

Question 9

What is the GI presentations of SLE?

Answer 9

• While uncommon it can present with: dysphagia, reduced peristalsis, peritonitis, pancreatitis, pseudo-obstruction and lupus hepatitis

Question 10

What is the pathophysiology of SLE?

Answer 10

Mixture of environmental and genetic factors. There may be an environmental factor that causes cell apoptosis and person may have genetic factor which makes them poor at clearing up apoptotic bodies and nuclear antigens. High levels of nuclear antigens results in immune response and generation of anti-nuclear antibodies. Immune complexes then get deposited in tissue and cause inflammation

Question 11

What are the two autoantibodies which can be seen in SLE?

Answer 11

• Anti-nuclear antibodies (this is needed to make diagnosis) however seen in lots of autoimmune diseases so sensitive but not specific
• ENA panel can show what antigens are affected. In SLE it’s commonly: Ro/La, Ds-DNA and Sm.
• Can also look at complement consumption trends

Question 12

What is the treatment for SLE?

Answer 12

• Steroids, hydroxychloroquine and Belimumab.
• Adjunctive treatment includes: fatigue management groups, CCB for Raynaud’s, sun protection, management of CVS and osteoporosis risk and anticoagulation if co-existing Antiphospholipid syndrome.

Question 13

What is Scleroderma?

Answer 13

An autoimmune disease characterised by skin thickening, progressive fibrosis and vascular disease.

Question 14

How is the diagnosis of scleroderma mafe?

Answer 14

• Skin thickening of the fingers extending proximal to metacarpophalangeal joints (up to knuckles) is sufficient for diagnosis.
  However if not present then scored on the following:
• Skin changes,
• Finger tip lesions,
• Telangiectasia,
• Abnormal nail fold capillaries,
• Pulmonary arterial hypertension +/- ILD,
• Reynaud’s phenomenon,
• Scleroderma-related autoantibodies

Question 15

What are the different classifications of scleroderma

Answer 15

• Localised scleroderma
• Systemic scleroderma which is characterised into limited or diffuse variant

Question 16

What is the presentation of limited variant of scleroderma?

Answer 16

• Distal skin involvement,
• Skin calcification,
• Telangiectasia,
• Raynaud’s,
• Anti-centromere positive,
• Late incidence of pulmonary arterial hypertension

Question 17

Explain the presentation of diffuse variant of scleroderma?

Answer 17

• Proximal skin involvement and trunk,
• Anti- scl-70
• Reynauds,
• Early organ involvement with following: ILD, pulmonary arterial hypertension, renal failure, myocardial disease and GI involvement

Question 18

What is the cutaneous presentation of Scleroderma

Answer 18

• Skin thickening which initially appears as non-pitting oedema of hands and feet which progresses to skin tightness.
• Sclerodactyl (involvement of fingers)
• COntractures,
• Calcinosis,
• Telangiectasia

Question 19

What is the MSK, vascular, GI, Respiratory, cardiac and renal presentation of scleroderma

Answer 19

MSK - Arthralgia, myalgia, inflammatory arthritis, tendon friction rubs.
Vascular - Reynaud’s which can be severe causing digital ulcers.
GI - Commonly affected with oesophageal dysmotility, GORD, small bowel hypomobility with bac overgrowth, constipation and pancreatic insufficiency ,
Resp - ILD, pneumonia, Pulmonary hypertension,
Renal - Scleroderma renal crisis (hypertension, renal failure, seziures, encephalopathy) so avoid steroids!
Cardiac - arrhythmias, pericardial effusion and myocardial fibrosis

Question 20

What is the treatment for scleroderma

Answer 20

Cutaneous - Moisturiser, methotrexate.
MSK - Analgesia, methotrexate,
Reynaud’s - CCB is first line
Pulmonary - Mycopenolate Mofetil, cyclophosphamide or lung transplant.
GI - Prokinetics, PPIs, laxatives,
Cardiac - Immunosuppressives or pacemaker
Renal - Ace inhibitors
DO NOT USE STEROIDS BECAUSE OF RISK OF RENAL CRISIS

Question 21

What are the subtypes of idiopathic inflammatory myositis and the general presentation?

Answer 21

• Polymyositis,
• Dermatomyositis,
• Overlap syndromes eg, scleroderma and myositis overlap.
• Juvenile polymyositis/dermatomyositis
• Drug induced, eg, Statins
• General presentation is symmetrical proximal muscle weakness which can have respiratory muscle/diaphragm involvement, oesophageal involvement. Fatigue, fever and weight loss.

Question 22

Explain the presentation of dermatomyositis

Answer 22

• Cutaneous presentation may precede muscle involvement.
• Gottrons papules (rash over metocarpal-phalangeal joint and proximal interphalangeal joint,
• Heliotrope rash (often with orbital oedema),
• Macular erosion (shawl sign)
• Calcinosis
• Can have malignancy

Question 23

What are the investigations for inflammatory myositis

Answer 23

• Creatine Kinase in the thousands,
• Muscle biopsy is the gold standard
• Electromyography,
• MRI of muscles,
• Myositis specific antibiotics (anti-Jo1)
• Tumour screen if red plags

Question 24

What is the treatment for myositis

Answer 24

• Corticosteroids,
• Immunosupression (methotrexate, azathioprine)
• IV immunoglobulins
• In resistant disease can use rituximab or cyclophosphamide

Question 25

What is the diagnostic criteria for SLE?

Answer 25

1. Malar rash
2. Discoid rash
3. Photosensitivity
4. Mucosal involvement (ulcers of mouth/nose)
5. Serositis
6. Arthritis (in 2+ joints)
7. Renal disorder
8. Neurological disorders (seziures/psychosis)
9. Haematological disorders (APLS)
10. Anti-nuclear antibodies present (very sensitive but doesn’t tell you what autoimmune disease)
11. Other antibodies (Anti-smith antibodies, Anti-dsDNA (seen in active disease) or anti-phospholipid antibodies eg, anti-cardiolipin, lupus anticoagulant and anti beta 2 glycoprotein.