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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

What is the aetiology of Amyloidosis?

A

Amyloid fibrils are polymers of low-molecular-weight subunit proteins
These are derived from proteins that undergo conformational changes to adopt an anti-parallel beta-pleated sheet configuration
Their deposition progressively disrupts the structure and function of normal tissue

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3
Q

How is Amyloidosis classified?

A

According to the fibril subunit proteins

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4
Q

What are the different types of Amyloidosis?

A

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

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5
Q

What is the epidemiology of Amyloidosis?

A

AA - incidence of 1-5% amongst patients with chronic inflammatory diseases
AL - 300-600 cases in the UK per year
Hereditary Amyloidosis - accounts for 5% of patients with Amyloidosis

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6
Q

What are the renal symptoms and signs of Amyloidosis?

A

Proteinuria
Nephrotic Syndrome
Renal Failure

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7
Q

What are the cardiac symptoms and signs of Amyloidosis?

A

Restrictive cardiomyography
Heart Failure
Arrhythmia
Angina

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8
Q

What are the GI symptoms and signs of Amyloidosis?

A 
Macroglossia (characteristic of AL)
Hepatosplenomegaly
Gut Dysmotility 
Malabsorption
Bleeding
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9
Q

What are the Neurological symptoms and signs of Amyloidosis?

A

Sensory and motor neuropathy
Autonomic neuropathy
Carpal tunnel syndrome

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10
Q

What are the symptoms and signs you see on the skin in Amyloidosis?

A

Waxy skin and easy bruising
Purpura around the eyes (characteristic of AL)
Plaques and nodules

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11
Q

What are the symptoms and signs you see on the joints in Amyloidosis?

A

Painful asymmetrical large joints

Enlargement of anterior shoulder

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12
Q

What are the haematological symptoms and signs we see in Amyloidosis?

A

Bleeding Tendency

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13
Q

What investigations do we do for Amyloidosis?

A

Tissue Biopsy
Urine
Bloods
SAP scan

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14
Q

What would we check for in the urine in Amyloidosis?

A

Check for proteinuria

Free immunoglobulin light chains (in AL)

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15
Q

What bloods would you do for Amyloidosis?

A 
CRP/ESR 
Rheumatoid Factor 
Immunoglobulin levels 
Serum protein electrophoresis 
LFTs
U&Es
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16
Q

Why do we do a SAP scan for Amyloidosis?

A

Radiolabelled SAP will localise the deposits of amyloid

Musculoskeletal (21 decks)

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