Multisystem autoimmune disease

Question 1

What are ANAs and give one disease which they are associated with

Answer 1

ANA = Anti-Nuclear Antibodies
High sensitivity for systemic lupus erythematosus (SLE) (but low specificity) - over 95% of SLE patients are positive for ANAs.

Question 2

Give four different patterns of ANA staining

Answer 2

Homogenous
 - double stranded
 - single stranded
 - histone proteins
Speckled
Nucleolar
Peripheral\membranous

Question 3

Give two used of ANA testing

Answer 3

Screening test for SLE (and other diseases)

Disease monitoring isn SLE oe

Question 4

Give three types of ANCA associated vasculitis

Answer 4

Granulomatosis with polyangiitis (Wegener’s)
Microscopic polyangiitis
Eosiniphilic granulomatosis with polyangiitis (Churg-Strauss)

Question 5

List various immunological tests that can be used in the investigation of multi-system diseases

Answer 5

Anti-Nuclear Antibodies (ANA)
Anti-Nuclear Cytoplasmic Antibodies (ANCA)
Anti-phospholipid antibodies
Complement assays
Cryoglobulins
Rheumatoid factor
Anti-cyclic citrullinated peptide (anti-CCP)
Serum immunoglobulin measurements
HLA-B27
ESR and CRP

Question 6

Give eleven possible features of Systemic Lupus Erythematosus

Answer 6

1) Malar rash (butterfly rash)
2) Discoid rash (raised, scarring, permanent marks, alopecia)
3) Photosensitivity
4) Oral ulcers
5) Arthritis (similar to OA but non-erosive, 2 joints at least)
6) Serositis (pleurisy or pericarditis)
7) Renal (significant proteinuria or cellular casts in urine; urinalysis is VERY important)
8) Neurological (unexplained seizures or psychosis)
9) Haematological (low WCC, platelets, lymphocytes, haemolytic anaemia)
10) Immunological (anti ds-DNA, SM, cardiolipin, lupus anticoagulant, low complement)
11) ANA

Question 7

What are the main features of Sjogren’s syndrome?

Answer 7

Lack of tears and saliva cause greatest problems:
• Dry, gritty eyes
• Difficulty swallowing; need lots of water with meals
May have parotid gland enlargement.
May have systemic symptoms:
• Fatigue, fever, myalgia, arthralgia

Question 8

Describe the different types of vasculitis

Answer 8

•	Large vessel vasculitis
o	Takayasu arteritis
o	Giant cell arteritis
•	Medium vessel vasculitis
o	Polyarteritis Nodosa
o	Kawasaki disease
•	Small vessel vasculitis
o	ANCA-associated vasculitis
	Microscopic polyangitis
	Granulomatosis with polyangitis
	Eosinophilic granulomatosis with polyangitis

Question 9

How is giant cell arteritis diagnosed?

Answer 9

Temporal biopsy - gold standard diagnostic test for giant cell arteritis

Question 10

Give three subtypes of ANCA-associated vasculitis

Answer 10

Granulomatosis with polyangiitis (Wegener’s)
Microscopic polyangiitis
Eosinophilic granulomatosis with polyangiitis

Question 11

Describe the drug treatment options for ANCA-associated vasculitis

Answer 11

Depends on risk of organ damage:

Mild - hydroxychloroquine

Moderate - azathioprine, methotrexate, mycophenolate

Severe - cyclophosphamide, rituximab

Question 12

What is scleroderma?

Answer 12

Spectrum of conditions linked by subcutaneous skin thickening: multisystem autoimmune disease in which there is increased fibroblast activity resulting in abnormal growth of connective tissue.

Question 13

What are the cardinal features of scleroderma/systemic sclerosis?

Answer 13

• Excessive collagen production and deposition
• Vascular damage
• Immune system activation via autoantibody production and cell-mediated autoimmune mechanisms.

Question 14

Which autoantibodies are present in scleroderma?

Answer 14

Sensitive but NOT specific - antinuclear antibody (ANA)

SSc-specific autoantibodies:
o Anti-topoisomerase 1 (also known as anti-Scl 70)
o Anti-centromere antibody (ACA)
o Anti-RNA polymerase III antibody

Question 15

Give two types of autoimmune myositis

Answer 15

Polymyositis

Dermatomyositis

Question 16

Describe the clinical features of autoimmune myositis

Answer 16

Characterised by muscle weakness which is symmetrical, diffuse and proximal. Dermatomyositis also develops skin signs such as Gottron’s papules and Heliotrope rash.

Question 17

How is autoimmune myositis diagnosed?

Answer 17

Muscle biopsy

imaging is useful in narrowing down differential and monitoring disease progression

Question 18

Give four diseases which are associated with a strong positive RF test

Answer 18

Rheumatoid arthritis
Sjogren’s syndrome
Systemic sclerosis
Systemic Lupus Erythematosus

Question 19

What conditions can be associated with a weak positive RF test?

Answer 19

Chronic infection
 - viral hepatitis
 - tuberculosis
 - endocarditis
Hyperglobulinaemia e.g. chronic liver disease
Malignancy

Question 20

Give five conditions associated with a strong positive ANA test

Answer 20

SLE
Drug-induced lupus
Systemic sclerosis
Sjogren's syndrome
Rheumatoid arthritis

Question 21

Which conditions can be associated with a weakly positive ANA test?

Answer 21

Autoimmune diseases
 - chronic hepatitis
 - thyroid disorders
Myasthenia gravis
Widespread burns