Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: Patients can have both monoclonal gammopathies and hereditary amyloid proteins Journal Article


Authors: Comenzo, R. L.; Zhou, P.; Fleisher, M.; Clark, B.; Teruya-Feldstein, J.
Article Title: Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: Patients can have both monoclonal gammopathies and hereditary amyloid proteins
Abstract: 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 Aα, 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. © 2006 by The American Society of Hematology.
Keywords: adult; controlled study; aged; aged, 80 and over; middle aged; major clinical study; polymerase chain reaction; amyloidosis; algorithm; screening; staining; immunoglobulin light chain; monoclonal immunoglobulinemia; immunoglobulin light chains; prealbumin; fibrinogen; paraproteinemias; fiber; apolipoprotein a1; familial amyloidosis; lysozyme; apolipoprotein a2; amyloidosis, familial
Journal Title: Blood
Volume: 107
Issue: 9
ISSN: 0006-4971
Publisher: American Society of Hematology  
Date Published: 2006-05-01
Start Page: 3489
End Page: 3491
Language: English
DOI: 10.1182/blood-2005-10-4148
PUBMED: 16439680
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 50" - "Export Date: 4 June 2012" - "CODEN: BLOOA" - "Source: Scopus"
Altmetric Score
MSK Authors
  1. Julie T Feldstein
    288 Feldstein
  2. Raymond L Comenzo
    112 Comenzo
  3. Ping Zhou
    43 Zhou
  4. Martin Fleisher
    242 Fleisher
  5. Bradly D Clark
    15 Clark