Amyloidosis

Question 1

What is amyloidosis?

Answer 1

extracellular +/or intracellular deposition of insoluble abnormal amyloid fibrils that alter normal function of tissues.

Question 2

List 4 risk factors for amyloidosis

Answer 2

Monoclonal gammopathy of undetermined significance
Inflammatory polyarthropathy
Chronic infections
IBD

Question 3

How can a histological tissue specimen be confirmed as an amyloid deposit?

Answer 3

Binds cotton wool dye (Congo red) + demonstrates green birefringence when viewed under polarised light

Question 4

List 5 symptoms of amyloidosis

Answer 4

Fatigue
Weight loss
Dyspnoea on exertion
Easy bruising
Sensory change

Question 5

List 6 signs of amyloidosis

Answer 5

Jugular venous distension (high right-sided filling pressure)
Infiltrative/ restrictive cardiomyopathy
Unexplained renal disease
Hepatomegaly
Lower extremity oedema
Postural hypotension.

Question 6

What bedside investigations should be taken in amyloidosis?

Answer 6

Urinalysis: proteinuria
FBC: mild anaemia, thrombocytopenia.
Blood film: Howell-Jolly bodies (splenic dysfunction).
U+Es: raised creatinine.
LFTs: raised ALP
Clotting: abnormal in 50% of pts; raised INR, factor X deficiency.
Raised ESR
ECG: low voltage pattern, poor R-wave progression across limb leads

Question 7

What may be found on echocardiography in amyloidosis?

Answer 7

Ventricular thickening + reduced ventricle size

Question 8

What technique can be used to identify the form of amyloidosis?

Answer 8

Immunofixation electrophoresis