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
- Tissue biopsy with Congo red stain is the gold standard test for the diagnosis of amyloidosis.[1]
- Biopsy may be taken from an affected organ such as kidney, or from subcutaneous fat or rectal mucosa.
- The rectal mucosa biopsy is especially sensitive for:
- Transthyretin (TTR)
- Apolipoprotein AI
- Apolipoprotein AII
- Fibrinogen Aa
- Biopsy of the affected organ is recommended for patients with limited organ involvement.[2]
- Biopsy from unaffected organs is more sensitive in patients with multi-organ involvement.
Diagnostic Results
The following finding on tissue biopsy is confirmatory for familial amyloidosis:[3][4]
- Apple green birefringence of the tissue sample under polarized light with Congo red stain.
Sequence of Diagnostic Studies
The various investigations must be performed in the following order:
- History
- Although all the familial amyloidosis types are autosomal dominant, different degree of temperance makes it difficult to diagnose the disease based on family history.
- Physical examination
- Biopsy
Name of Diagnostic Criteria
There are no established criteria for the diagnosis of familial amyloidosis.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.