Familial amyloidosis diagnostic study of choice: Difference between revisions

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===== Sequence of Diagnostic Studies =====
===== Sequence of Diagnostic Studies =====
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
OR
The various investigations must be performed in the following order:
The various investigations must be performed in the following order:
* [Initial investigation]
* History
* [2nd investigation]
**Although all the familial amyloidosis types are autosomal dominant, different degree of temperance makes in difficult to diagnose the disease based on family history.
*Physical examination
*Biopsy


=== Name of Diagnostic Criteria ===
=== Name of Diagnostic Criteria ===
 
There are no established criteria for the diagnosis of familial amyloidosis.
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''IF there are clear, established diagnostic criteria'''
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].


==References==
==References==

Revision as of 15:23, 11 November 2019

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

Overview

Diagnostic Study of Choice

Study of choice

  • Tissue biopsy with Congo red stain is the gold standard test for the diagnosis of familial amyloidosis.[1]
  • Biopsy tissue may be taken from an affected organ like kidney, or from subcutaneous fat or rectal mucosa.
  • The rectal mucosa biopsy is more sensitive for:
  • 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 performing 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 in 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

  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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