Amyloidosis

Question 1

Definition

Answer 1

Amyloidosis is the name for a group of rare, serious conditions caused by a build-up of an abnormal protein called amyloid in organs and tissues throughout the body.

Question 2

Aetiology

Answer 2

The build-up of amyloid proteins (deposits) can make it difficult for the organs and tissues to work properly. Without treatment, this can lead to organ failure.

AL amyloidosis is caused by an abnormality plasma cells found in the bone marrow.
Abnormal plasma cells produce abnormal forms of light chain proteins, which enter the bloodstream and form amyloid deposits.
Over time the amyloid deposits build up and cause symptoms/damage to organs.

Question 3

Epidemiology

Answer 3

AL amyloidosis is the most common form but is not inherited

ATTR amyloidosis is another type which does run in families.

Question 4

Presenting symptoms

Answer 4

Symptoms depend on which tissues and organs are affected

Kidney failure:
Oedema
Fatigue
Loss of appetite

Heart failure:
Oedema
Shortness of breath
Arrhythmia

Other symptoms:
Faint/light headed
Nausea, diarrhoea, constipation
Easy bruising
Numbness, tingling, pain in wrist hands fingers or hands and feet (carpal tunnel syndrome or peripheral neuropathy)

Does not affect the brain

Question 5

Investigations

Answer 5

Biopsy from affected part of the body (will be checked for amyloid deposits)

Bone marrow biopsy

Echocardiogram to check for any heart damage

Blood test - look for organ damage

CT or MRI scan on affected organs

SAP scan - pt is injected with small amount of radio-labelled blood protein called serum amyloid P component (SAP) then scanned - the SAP will stick to any amyloid deposits in the body