Primary Amyloidosis

Question 1

What is Primary Amyloidosis?

Answer 1

Extracellular deposition of amyloid fibril forming monoclonal Ig light chains. The result is deposits of amyloid protein in organs

Question 2

Presentation of Primary Amyloidosis?

Answer 2

• Can effect: heart, kidneys, peripheral nerves, GI tract, respiratory tract
• Non-specific symptoms including fatigue, anorexia, weight loss, heart failure, renal failure, macroglossia, peripheral neuropathy, carpal tunnel syndrome
• Weakness
• Dyspnoea
• Renal manifestations are common - proteinuria, nephrotic syndrome, impaired renal function
• Restrictive cardiomyopathy

Question 3

Investigations of Primary Amyloidosis?

Answer 3

• Ideally minimally invasive biopsy
• Histological exam of affected site - congo red-positive amyloid deposits (apple-green bifringent under polarised light)
• Urinalysis - proteinuria
• FBC -anaemia, thrombocytopenia
• Blood film - Howell-Jolly bodies
• U&Es - raised creatinine
• LFTs - raised alkaline phosphatase
• Serum amyloid p scan - extent and severity of disease
• Clotting bloods - abnormal, raised INR, factor 5 deficiency
• Bone marrow biopsy

Question 4

Treatment of Primary Amyloidosis?

Answer 4

• Supportive treatment
• Diuretics
• Erythropoietin
• Chemotherapy, with autologous stem cell transplant

Question 5

Prognosis of Primary Amyloidosis?

Answer 5

Poor prognosis - 12-14 months