CP5-4 diagnosis of autoimmune diseases Flashcards

1
Q

How can an autoimmune disease develop?

A

The immune system should be tolerant to self antigens and eliminate parts of the immune system which attack itself. Failure to eliminate these autoimmune responses can lead to autoimmune disease.

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2
Q

What is sclerodactyly?

A

Tightening of the skin

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3
Q

How might scleroderma (systemic sclerosis) present?

A

Sclerodactyly
Livedo reticularis on the legs
Cool feet

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4
Q

What investigations can be dome for autoimmune diseases?

A

Test for:
ANA (antinuclear antibodies)
ANCA (antineutrophil cytoplasmic antibodies)
Creatine kinase
rheumatoid factor
Anti-CCP antibody
Complement
FBC, U&Es, LFTs and CRP

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5
Q

What is an ANA test?

A

An antinuclear antibody test which can be made more specific to identify subtypes of antibody that are binding to different bits of the cell nucleus

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6
Q

How does antinuclear antibody testing work?

A

By using indirect immunofluorescence - if fluorescence seen, the test it positive

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7
Q

What techniques can be used to identify dsDNA and ENAs in autoimmune disease?

A

Immunoblots
Individual ELISA’s
Microbead-based immunoassay

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8
Q

What antibodies are tested for in ANA screening?

A

dsDNA
Chromatin
Ribosomal protein
SS-A (52 and 60)
SS-B
Sm
Sm/RNP
RNP (A and 68)
Scl-70
Jo-1
Centromere B

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9
Q

How can antibody tests help determine which autoimmune disease a patient has?

A

Different antibodies are associated with different autoimmune disease so once the antibody present is identified, we can compare to find which autoimmune disease is associated with this antibody.

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10
Q

What two criteria needs to be considered in diagnosing autoimmune disease?

A

Clinical criteria (signs and symptoms)
Immunologic criteria

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11
Q

What is rheumatoid factor?

A

Antibody (either IgM, IgG or IgA) which attacks/is directed against the Fc portion of IgG

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12
Q

Which diseases (other than rheumatoid arthritis) may come back positive for rheumatoid factor?

A

Diseases where polyclonal stimulation of B cells is seen

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13
Q

What antibody is a key one to test in diagnosing rheumatoid arthritis more so than rheumatoid factor?

A

Anti-CCP antibody aka ACPA

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14
Q

What does a positive ACPA result indicate about the disease?

A

It is more severe and erosive

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15
Q

When is an anti neutrophil cytoplasmic antibody (ANCA) test done?

A

When vasculitis e.g. renal or ENT is suspected

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16
Q

If a patient is positive for ANCA, what treatment is started asap?

A

Immunosupression

17
Q

What are symptoms of granulomatosis with polyangitis?

A

can include:
Mouth ulcers
Conjunctivitis
Fatigue
Pyrexia
SoB and persistent cough
Haematuria
Hypertension
Rash
Diarrhoea +/- blood

18
Q

What is tested for in suspected granulomatosis with polyangitis?

A

Cytoplasmic ANCA aka cANCA
Perinuclear ANCA aka pANCA

19
Q

Which autoantibody most commonly leads to a positive cANCA test?

A

PR3 (90% of time)

20
Q

Which autoantibody most commonly leads to a positive pANCA test?

A

MPO (70% of time)

21
Q

Which autoantibody is ANCA positive in 50% of cases of Churg-Strauss syndrome?

A

MPO

22
Q

What is the gold tankard test for diagnosis autoimmune disease?

A

Histopathology

23
Q

What does reemergence of ANCA in a patient who was in remission and ANCA negative mean?

A

A flare up of disease

24
Q

What is found in testing for primary biliary sclerosis?

A

Anti-mitochondrial Ab

25
Q

What is found in testing for autoimmune hepatitis?

A

Anti-smooth muscle and anti-liver/kidney/microsal (LKS) antibodies

26
Q

How are antibodies in autoimmune liver disease detected?

A

By immunofluorescence screening
Antigen specific ELISAs

27
Q

What is found when testing for type 1 diabetes?

A

Islet cell antibodies
Anti-GAD65 and anti-GAD67
IA-2
IAAs

28
Q

What is found in a positive test for addisons’s disease?

A

Auto antibodies targeting adrenal cortex

29
Q

What is detected when a patient has pernicious anaemia?

A

H+K+-ATPase in gastric parietal cells

30
Q

What antibodies are found with autoimmune gastritis associated pernicious anaemia?

A

Antibodies to GPC and intrinsic factor