Document Detail

Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins.
MedLine Citation:
PMID:  16439680     Owner:  NLM     Status:  MEDLINE    
Investigators in the United Kingdom have shown that hereditary amyloidosis can be misdiagnosed as Ig light-chain (AL) amyloidosis because family history is an ineffective screen, and tissue staining used to type amyloid is unreliable. Misdiagnosis of AL can lead to inappropriate use of chemotherapy and failure to diagnose a hereditary disease. Over a 3-year period we sought to determine how often both possible sources of amyloidosis occurred in the same patient. We employed an algorithm based on established data and patterns of amyloidosis in order to focus the screening effort. Of 178 consecutive patients referred for amyloidosis, 54 were screened by polymerase chain reaction techniques with primers designed to detect transthyretin, apolipoprotein AI, apolipoprotein AII, fibrinogen Aalpha, and lysozyme variants. Three patients (6% of those screened and 2% of symptomatic patients) had both a monoclonal gammopathy and a hereditary variant. These results justify further study of screening for hereditary variants in patients with apparent AL, and highlight the need for practical techniques for identifying fibrils extracted from tissue.
Raymond L Comenzo; Ping Zhou; Martin Fleisher; Bradly Clark; Julie Teruya-Feldstein
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.     Date:  2006-01-26
Journal Detail:
Title:  Blood     Volume:  107     ISSN:  0006-4971     ISO Abbreviation:  Blood     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-04-21     Completed Date:  2006-05-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3489-91     Citation Subset:  AIM; IM    
Howard 802, Memorial Sloan-Kettering Cancer Center, 1275 York Ave, New York, NY 10021, USA.
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MeSH Terms
Aged, 80 and over
Amyloidosis / diagnosis*
Amyloidosis, Familial / complications,  diagnosis*,  genetics
Immunoglobulin Light Chains
Middle Aged
Paraproteinemias / complications,  diagnosis*
Polymerase Chain Reaction
Prealbumin / genetics
Reg. No./Substance:
0/Immunoglobulin Light Chains; 0/Prealbumin
Comment In:
Blood. 2006 Jul 15;108(2):776; author reply 776-7   [PMID:  16822909 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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