Familial amyloidosis diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Tissue biopsy with Congo red stain is the gold standard test for the diagnosis of amyloidosis. Biopsy may be taken from an affected organ such as kidney, or from subcutaneous fat or rectal mucosa. There are no established criteria for the diagnosis of familial amyloidosis.

Diagnostic Study of Choice

Study of choice

Diagnostic Results

The following finding on tissue biopsy is confirmatory for familial amyloidosis:[3][4]

Sequence of Diagnostic Studies

The various investigations must be performed in the following order:

Name of Diagnostic Criteria

There are no established criteria for the diagnosis of familial amyloidosis.

References

  1. Benson MD, Yazaki M, Magy N (December 2002). "Laboratory assessment of transthyretin amyloidosis". Clin. Chem. Lab. Med. 40 (12): 1262–5. doi:10.1515/CCLM.2002.218. PMID 12553428.
  2. Andrews TR, Colon-Otero G, Calamia KT, Menke DM, Boylan KB, Kyle RA (December 2002). "Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy". Mayo Clin. Proc. 77 (12): 1287–90. doi:10.4065/77.12.1287. PMID 12479513.
  3. COHEN AS, CALKINS E (April 1959). "Electron microscopic observations on a fibrous component in amyloid of diverse origins". Nature. 183 (4669): 1202–3. doi:10.1038/1831202a0. PMID 13657054.
  4. Kyle RA (September 2001). "Amyloidosis: a convoluted story". Br. J. Haematol. 114 (3): 529–38. doi:10.1046/j.1365-2141.2001.02999.x. PMID 11552976.



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