Sunday, 27 November 2011

Amyloidosis

- disorder of protein metabolism in which there is an extracellular deposition of pathological insoluble fibrillar proteins in organs and tissues
- diagnosis made by biopsy of affected tissue and positive Congo Red staining with red green birefringence under polarised light microscopy. Rectum or subcutaneous fat are relatively non-invasive site for biopsy

Primary amyloidosis (AL amyloidosis)
- in lymphoproliferative disorder (myeloma, MGUS, non-Hodgkin lymphoma), clonal plasma cells in bone marrow produce immunoglobulins that are amyloidogenic
- presents with nephrotic syndrome, cardiomyopathy (avoid digoxin), autonomic and sensory neuropathies, hepatomegaly, periorbital purpura and macroglossia
- echo : 'sparkling' appearance (restrictive cardiomyopathy)

Familial amyloidosis (transthyretin-associated)
- autosomal dominant
- renal disease less prevalent than AL amyloidosis and macroglossia does not occur

Reactive amyloidosis (AA amyloidosis)
- formed from serum amyloid A (SAA), which is an acute phase protein
- occurs in chronic inflammatory disorder
- presents with nephrotic syndrome, hepatomegaly and splenomegaly, cardiac involvement is much less common







1 comment:


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    ReplyDelete