Amyloidosis

Question 1

Types

Answer 1

AL: Primary: most common
AA: secondary
Hereditary 
Senile
Ab2M
Organ-specific

Question 2

AL primary etiology

Answer 2

MM, light chain disease, MGUS, WM

multiorgan involvement

Question 3

AA secondary etiology

Answer 3

Inflammatory: RA, IBD, FMF
Chronic infection: osteo, TB
Neoplasms: renal, HD

Question 4

Diagnosis

Answer 4

SIEP, UIEP (increase sens. compared to SPEP/UPEP) & free light chains, +/- BM bx
U/A to r/o proteinuria
If suspect cardiac involvement -> ECG, echo (biventricular thickening with “granular sparkling” appearance, increase wall thickness without voltage increase), MRI
Biopsy (abdominal SC fat, rectal, or affected tissue) ->apple green birefringence on Congo Red stain, se 60-85%, Sp 90-100%
Genetic testing for hereditary forms

Question 5

Treatment

Answer 5

AL: ?high dose melphalan -> auto-HSCT if limited organ dysfunction, novel agents: bortezomib, lenalidomide, thalidomide
AA: Rx underlying disease, colchicine for Familial mediarrinean fever esp to prevent renal disease, eprodisate for renal disease
Hereditary: liver transplantation to correct liver defect
Cardiac involvement: diuretics. AVOID dig/CCB/vasodilators, ICD for primary prevention
Heart, kidney and liver Tx may be considered in those with advanced disease