Cardiology [AAA and Amyloidosis] (Complete)

Question 1

Define abdominal aortic aneurysm

Answer 1

Aneurysm of the abdominal aorta

Question 2

List the main risk factors for an AAA (6)

Answer 2

Smoking

Family history of AAA

Age

Male (prevalence)

Female (rupture)

Congenital/connective tissue disorders (e.g. Marfans, congenital biicuspid aortic valves).

Question 3

AAA is mainly asymptomatic however, what are the main signs/symptoms? (4)

Answer 3

Classic triad if ruptured: Abdominal and/or back pain, hypotension, abdominal mass.

Abdominal distention

Pallor

Loss of consciousness

Question 4

What is the classic triad of symptoms/signs in a person with a ruptured AAA?

Answer 4

Back pain and/or abdominal pain

Hypotension

Pulsatile abdominal mass

Question 5

A ruptured aneurysm mimics which common condition?

Answer 5

Renal colic

Question 6

What investigation should be conducted if a patient is suspected of AAA? What are typical findings?

What are investigations to consider? [4]

Answer 6

Aortic ultrasound (>3mm anterior-posterior diametre of abdominal aorta)

Investigations to consider if suspected of a rupture:

Cross match (for blood transfusion)

FBC: Anaemia [ruptured], leukocytosis [if infective cause of AAA]

ESR/CRP, Blood culture: To check for infective cause

CT scan: If AAA is diagnosed to see extent of disease

Question 7

Define amyloidosis

Answer 7

Condition characterised by buildup of amyloid proteins in tissues and organs

Question 8

What are the 5 main types of amyloidosis and their usual cause?

Answer 8

AL amyloidosis: Most common type affecting heart,kidney, nerves and liver

Familial amyloidosis (Inherited cause in which there is abnormality in the protein produced in the liver TTR (tranthyretin)).

AA amyloidosis: Triggered by inflammatory conditions such as rheumatoid arthiritis, Crohn’s disease ect. Usually affects the kidneys, liver and spleen

Wild-type amyloidosis: Tends to occur in elderly (aged 70) males and is where the TTR protein is being normally produced in the liver but somehow still forms amyloids.

Localised amyloidosis

Question 9

What is the most common type of amyloidosis?

Answer 9

Immunogobulin light chain amyloidosis (aka AL amyloidosis)

Question 10

Describe the aetiology of AL amyloidosis

Answer 10

Aetiology unkown but associated with multiple myeloma

Question 11

What are the three main types of cardiac amyloidosis?

Answer 11

AL amyloidosis

Familial amyloidosis (TTR)

Wild-type amyloidosis

Question 12

What are the two main primary target organs in AL amyloidosis?

Answer 12

Heart

Kidneys

N.B. Sometimes liver and nerves

Question 13

What are the 4 main risk factors for amyloidosis?

Answer 13

Monoclonal gammopathy of undetermined significance (elevated levels of protein in blood than normal but not to the levels typicallly seen in things such as blood cancers).

Inflammatory conditions (e.g. Crohn’s disease, Rheumatoid arthiritis)

Chronic infections

Family history

Age (70)

Sex (male)

Question 14

List 4 main symptoms that are present in all types of amyloidosis.

List other symptoms of amyloidosis

Answer 14

Fatigue

Weight loss

Parathesias

Dyspnoea

Other symptoms:

Carpal tunnel syndrome

GI symptoms

Nephrotic syndrome symptoms

Peripheral and autonomic neuropathy

Question 15

List 4 symptoms associated specifically with AL amyloidosis

Answer 15

HFpEF (Heart failure with preserved ejection fraction)

Light-headedness due to HFpEF

Jaw claudication (pain with exertion of movement)

Calf and limb claudication

Question 16

List signs of AL amyloidosis upon physical examination

Answer 16

Lower extremity oedema

Elevated venous jugular pressure

Amyloid purpura (typically periorbital)

Macroglossia

Enlargment of submandibular salivary gland

Palpable hepatomegaly

Shoulder pad sign (Swelling of shoulder pads)

Muscular weakness

Question 17

List investigations that should be performed in patients suspected of amyloidosis.

Answer 17

1st order investigations:

1. Serum immunofixation (presence of monoclonal protein in 60% of AL amyloidosis)
2. Urine immunofixation (monoclonal protein in 80% of AL patients)
3. Immunoglobulin free light chain assay (highly sensitive and positive finding is abnormal kappa to lambda ratio in AL)

Other investigations:

ECG

Troponin (Prognosis predictor)

BNP (Prognosis predictor)

Question 18

What investigations should be performed after positive findings in intial investigations for amyloidosis? (4)

Answer 18

Tissue biopsy for testing (e.g. bone marrow biopsy)

Amyloid typing tests: Mass spectrometry, immuno-electro microscopy

Genetic testing (rule out familial cause)

SAP scintigraphy (positive finding of uptake at amyloid sites)