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Musculoskeletal > Amyloidosis > Flashcards

Amyloidosis Flashcards

1
Q

Define amyloidosis

A

Heterogenous group of diseases characterised by extracellular deposition of amyloid fibrils

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2
Q

Aetiology of amyloidosis

3

A

Amyloid fibrils are polymers of low molecular weight subunit proteins

Derived from proteins that undergo conformational changes to adopt an anti parallel β-pleated sheet configuration

Deposition progressively disrupts structure & function of normal tissue

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3
Q

Classification of amyloidosis

general + 3

A

Amyloidosis is classified according to fibril subunit proteins:

Type AA - serum amyloid A protein
Type AL - monoclonal immunoglobulin light chains
Type ATTR (familial amyloid polyneuropathy) - genetic variant transthyretin

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4
Q

Epidemiology of amyloidosis

prevalence of 3 type

A

AA - incidence 1-5% amongst patients w/ chronic inflammatory disease
AL - 300-600 cases in UK per year
Hereditary amyloidosis - accounts for 5% patients w/ amyloidosis

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5
Q

Presenting symptoms & signs of amyloidosis - renal

3

A

Proteinuria
Nephrotic syndrome
Renal failure

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6
Q

Presenting symptoms & signs of amyloidosis - cardiac

4

A

Restrictive cardiomyopathy
Heart failure
Arrhythmia
Angina

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7
Q

Presenting symptoms & signs of amyloidosis - GI

5

A 
Macroglossia (characteristic of AL)
Hepatosplenomegaly
Gut dysmotility  
Malabsorption
Bleeding
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8
Q

Presenting symptoms & signs of amyloidosis - neurological

3

A

Sensory & motor neuropathy
Autonomic neuropathy
Carpal tunnel syndrome

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9
Q

Presenting symptoms & signs of amyloidosis - skin

4

A

Waxy skin
Easy bruising
Purpura around the eyes (characteristic of AL)
Plaques & nodules

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10
Q

Presenting symptoms & signs of amyloidosis - joints

2

A

Painful asymmetrical large joints

Enlargement of anterior shoulder

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11
Q

Presenting symptoms & signs of amyloidosis - haematological

A

Bleeding tendency

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12
Q

Investigations for amyloidosis

4

A

Tissue biopsy
Urine
Bloods
SAP scan

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13
Q

Investigations for amyloidosis - urine

A

Check for proteinuria, free immunoglobulin light chains (in AL)

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14
Q

Investigations for amyloidosis - bloods

6

A 
CRP/ESR
Rheumatoid factor
Immunoglobulin levels
Serum protein electrophoresis
LFTs
U&Es
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15
Q

Investigations for amyloidosis - SAP scan

A

Radiolabelled SAB will localise amyloid depositions

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Musculoskeletal (20 decks)

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