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AA amyloidosis

Etiology: 1) chronic suppuration or tissue breakdown a) rheumatoid arthritis (50%) b) ankylosing spondylitis c) Crohn's Disease d) chronic infection 1] tuberculosis 2] osteomyelitis 3] infection in paraplegic patients e) bronchietasis 2) familial Mediterranean fever 3) Castleman disease 4) lymphoma 6) vasculitis Pathology: 1) amyloid contains protein A, a fragment of serum acute phase protein (SAA) 2) amyloid fibrils in AA amyloidosis mostly deposit in liver, spleen & kidneys 3) end-stage renal disease is major cause of death (40-60%) Clinical manifestations: 1) renal failure (nephrotic syndrome) is most common presentation 2) gastrointestinal* (image) [5] a) chronic diarrhea b) GI bleeding c) abdominal pain d) malabsorption 3) hepatosplenomegaly 4) heart failure [1] Laboratory: - serum protein electrophoresis: polyclonal gammopathy - urinalysis: hematuria & pyuria minimal or absent Special laboratory: - electrocardiogram: low voltage - renal biopsy - yellow-green birefringence in polarized light - Congo red stain - thioflavin-T stain Differential diagnosis: - AL-amyloidosis - serum protein electrophoresis: monoclonal gammopathy (M spike) - post-infectious glomerulonephritis - serum complement low - active urine sediment: hematuria, erythrocyte casts - lupus nephritis: - low serum complement C3, serum complement C4 & CH50 - anti-dsDNA Ab in serum present in high titer - hematuria, erythrocyte casts in urine - IgA nephropathy - microscopic hematuria - nephrotic syndrome is an unusual presentation - interstitial nephritis - pyuria - proteinuria generally not nephrotic range unless NSAID-induced Management: 1) tocilizumab has been used in patients with rheumatoid arthritis [1,5] 2) Fibrillex (Neurochem Inc, Phase II/III clinical trials in 2003) <orphan drug status in the U.S. and in Europe> 3) poor prognosis: 5 year survival 50%

General

amyloidosis

References

  1. Medical Knowledge Self Assessment Program (MKSAP) 11, 18. American College of Physicians, Philadelphia 1998, 2018.
  2. http://www.neurochem.com/ResearchActivities.htm
  3. Bodin K et al. Antibodies to human serum amyloid P component eliminate visceral amyloid deposits. Nature 2010 Nov 4; 468:93.
  4. Obici L, Raimondi S, Lavatelli F, Bellotti V, Merlini G. Susceptibility to AA amyloidosis in rheumatic diseases: a critical overview. Arthritis Rheum. 2009 Oct 15;61(10):1435-40. PMID: 19790131 Free Article
  5. Izuka S, Yamashita H Images in Clinical Medicine. Gastrointestinal Amyloidosis. N Engl J Med 2021; 384:2144 PMID: 34077646 https://www.nejm.org/doi/full/10.1056/NEJMicm2034179
  6. NEJM Knowlege+ - Lane T, Pinney JH, Gilbertson JA et al Changing epidemiology of AA amyloidosis: clinical observations over 25 years at a single national referral centre. Amyloid. 2017 Sep;24(3):162-166. PMID: 28686088 Clinical Trial. - Lachmann HJ, Goodman HJ, Gilbertson JA et al Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007 Jun 7;356(23):2361-71. PMID: 17554117 Free article. https://www.nejm.org/doi/pdf/10.1056/NEJMoa070265