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Clinical Pathology > Theme 2 Lecture 8: Diagnosis of autoimmune diseases > Flashcards

Theme 2 Lecture 8: Diagnosis of autoimmune diseases Flashcards

1
Q

What is autoimmune disease?

A

when the immune system dosen’t tolerate self antigens and identifies them as something that needs to be attacked
“antibodies against self”

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2
Q

How would we work out which autoimmune disease a patient has?

A
  • take a history
  • examine patient
  • perform blood test (we have tests to detect which autoantibodies are present in patients blood)
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3
Q

What is your diagnosis?

  • 51 yr old lady
  • 18 month history of SOB
  • pulmonary fibrosis
  • fatigues, aches, pains
  • thickening of skin on hands and changes in the skin around mouth
  • sclerodactyly both hands
  • livedo reticularis on the legs
  • cool feet on palpitation
A

scleroderma

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4
Q

What is sclerodactyly?

A

hardening of the skin of the hand that causes the fingers to curl inward and take on a claw-like shape

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5
Q

What tests could you give to diagnose an autoimmune condition?

A
  • ANA
  • ANCA
  • CK
  • rheumatoid factor
  • anti-CCP antibody
  • complement
  • FBC
  • U&Es
  • LFTs
  • CRP
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6
Q

What is an ANA test?

A
  • looks for antinuclear antibodies in your blood

- if test is +ve, could have an autoimmune disorder

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7
Q

What is the ANCA test used for?

A

to diagnose autoimmune vasculitis

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8
Q

What would an abnormal CK blood result indicate?

A 
muscle damage 
(ck=creatine kinase)
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9
Q

What are the two tests that could potentially diagnose RA?

A
  • rheumatoid factor (autoantibody in RA)

- anti-CCP antibody

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10
Q

What does FBC and LFTs stand for?

A

FBC - Full blood count

LFTs- liver function test

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11
Q

What is test specificity?

A

measure of how good the test is at correctly defining people without the disease

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12
Q

What is test sensitivity?

A

measure of how good the test is in identifying people with the disease

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13
Q

What is a positive predictive value?

A

proportion of people with a positive test who have the disorder

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14
Q

What is a negative predictive value?

A

proportion of people with a negative test who do not have the target disorder

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15
Q

What are the non-specific markers of inflammation? (e.g do not tell you which specific condition)

A
  • ESR (erythrocyte sedimentation test)
  • CRP
  • ferritin
  • fibrinogen
  • haptoglobin
  • albumin
  • complement
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16
Q

What are antinuclear antibodies (ANA)?

A

Antibodies in the patient’s blood that bind to the cell nucleus

17
Q

How does antinuclear antibody testing work?

A
  • see if antibodies bind
  • ANA immunoflourescence is always hep2
  • if patient’s antibodies bind to antigen, colour appears
  • different patterns for different antibodies
  • +ve result may mean you have an autoimmune disorder
  • different types of antibody are associated with different autoimmune diseases
18
Q 
Case 2: 
-25 yr old lady
-presents to rheumatology clinic with 3 month history
-patchy alopecia
-painful and swollen joints of the hands
-mouth ulcers 
-low platelet count
-high creatinine
-positive ANA screen
What is diagnosis?
A

SLE

19
Q

If you have a +ve ANA score, what could the diagnosis be?

A
  • SLE
  • RA
  • Scleroderma
  • Sjogren’s syndrome
20
Q

What is rheumatoid factor?

A
  • antibody directed against the Fc portion of IgG
  • commonly found in RA but not diagnostic of disease
  • can be seen with other disorders in which polyclonal stimulation of B cells is seen
21
Q

What is ACPA?

A
  • Anti CCP Antibody
  • ACPA more specific for RA than RF
  • useful prognostic marker
  • ACPA +ve patients tend to have more severe and erosive disorders
22
Q

Which test would you order when concerned about vasculitis?

A

ANCA - anti neutrophil cytoplasmic antibodies

23
Q

Case 3:

  • 53 yr old man
  • 3 week history of fever, fatigue, muscle pain, night swears and weight loss
  • urine dip contained blood
  • lung granuloma formation
  • raised creatinine and urea
  • ANCA showed a +ve c-ANCA pattern
A

vasculitis

24
Q

What is vasculitis and what are the general symptoms?

A

autoimmune inflammation of the blood vessels

fever, headache, fatigue, weight loss, general aches and pains

25
Q

What is granulomatosis with polyangiitis and what are the symptoms?

A
  • formally known as Wegener’s granulomatosis
  • type of vasculitis
  • oral cavity: ulcerations throughout oral mucosa
  • lungs: cavities, bleedings, lung infiltrates
  • skin: nodules on elbow, purpura
  • eye: pseudotumours, conjunctivitis
  • nose: stuffiness, nosebleeds
  • heart: pericarditis
  • kidneys: glomerulonephritis
26
Q

What are the two types of ANCA tests?

A
  1. cytoplasmic (c)ANCA
  2. perinuclear (p)ANCA
    - ANCA is the pattern and anti-PR3/MPO is the autoantibody causing the pattern
27
Q

What is the difference between cANCA and pANCA?

A 
cANCA: 
-granular fluorescence of neutrophil cytoplasm with nuclear sparing
-PR3 mostly
pANCA:
-flourescence of nucleus only 
-MPO mostly

cANCA can correlate to a slightly different type of vasculitis to pANCA

28
Q

When would you suspect alcoholic liver disease and what tests would you perform?

A
  • perform if LFTs are deranged
  • anti-mitochondrial Ab specific for primary biliary sclerosis
  • anti-smooth muscle and anti-liver/kidney (found in autoimmune hepatitis)
  • antibodies detected by IF screening using rodent tissue block and antigen specific ELISA
29
Q

What types of autoantibodies are found in type 1 diabetes

A

-islet cell antibodies, anti-GAD65, anti-GAD67, IA-2, IAAs (insulin autoantibodies)

30
Q

What is addison’s disease?

A
  • adrenal insufficiency

- adrenal glands produce too little cortisol and aldosterone

31
Q

What is the cause of pernicious anaemia?

A

autoimmune disease where body cant make enough healthy RBCs because it dosen’t have enough Vit B12

32
Q

What is primary biliary cholangitis?

A
  • autoimmune disease of liver

- slow, progressive destruction of small bile ducts of the liver, causing bile and other toxins to build up in liver

33
Q

What are 4 methods we can use to test for anti-nuclear antibodies?

A
  • indirect immunofluorescence
  • ELISA
  • microbead immunoassay
  • immunoblot
34
Q

Which disease is associated with anti-neutrophil cytoplasmic antibodies (ANCA)?

A

Vasculitis

35
Q

Which disease is associated with anti-CCP?

A

Rheumatoid arthritis

Clinical Pathology (57 decks)

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