Amyloidosis

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Features

-  Group of disorders

-  Cellular aggregation and deposition of insoluble misfolded protein fibrils that injure tissue

-  23+ unrelated proteins

-  Hereditary

-  ApoAI, ApoAII

-  CNS

-  Beta protein precursor (AD, Downs..), Prion (CJD)

-  Occular

-  Lactoferrin

-  Localised

-  Calcitonin, prolactin, amylin (DM2)

 

Types

-  Chemically based classification

-  A followed by protein name

-  AA = Amyloid Amyloidosis

-  AL = Amyloid Light chain

-  ATTR = Amyloid Transthyretin

-  AB2M = Amyloid Beta 2 Myoglobulin

 

Dx

-  Biopsy

-  Congo red binding material: Dx Amyloidosis

-  Immunostaining w Ab: Amyloid type

-  Subcutaneous fat aspiration: Amyloid type

- Effected Organ Biospy

-  Established link between disease & clinical S/S

-  May not be required

 

Ix

-  As above

-  Ix as per involved organs: renal, cardiac..

 

 

 

Amyloid Amyloidosis (AA)

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Features

-  AA = Amyloid Amyloidosis

-  Associated w chronic inflammatory disorders

-  Leprosy, TB, osteomyelitis, RA, Crohns, Psoriasis..

-  Typically effects kidney liver spleen

 

Mx

-  Colchicine prevents renal failure in Familial Meditaranian fever

-  Mx of underlying chronic inflammation

 

 

 

Light Chain Amyloidosis (AL)

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Features

-  AL = Amyloid Light chain

-  Monoclonal plasma cell disorder related to Multiple Myeloma

-  Effects heart, kidney, peripheral nerves, gastrointestinal tract, respiratory tract and nearly any other organ

 

Mx

-  As per Multiple Myeloma

 

 

 

ATTR Amyloidosis

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Features

-  ATTR = Amyloid Transthyretin

-  Normally synthesized in the liver and choroids plexus

-  Prevelance increases w age, 25% ppl > 90 yrs

-  Effects peripheral nerves, heart, gastrointestinal tract and vitreous

-  Mutant sequence or normal sequence

 

Mx

-  Liver transplant if mutant sequence

-  Supportive for either

 

 

 

Beta 2 Microglobulin Amyloidosis

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Features

-  AB2M = Amyloid Beta 2 Microglobulin

-  Light chain component MHC

-  Usually from patients on dialysis or rarely in renal failure

-  Muskuloskeletal involvement: carpal ligaments, synovium, bone

-  May also effect heart, gastrointestinal tract, liver, lungs, prostate, adrenals and tongue

 

Mx

-  Microglobulin not removed by dialysis

-  Renal transplant