Patients can have monoclonal gammopathies and hereditary amyloid proteins

06-30-2006

According to recent research published in the journal Blood, "Investigators in the United Kingdom have shown that hereditary amyloidosis can be misdiagnosed as immunoglobulin 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 three-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 A alpha, and lysozyme variants," said Raymond L. Comenzo and colleagues at the Memorial Sloan-Kettering Cancer Center. "Three patients (6% of those screened and 2% of symptomatic patients) had both a monoclonal game myopathy 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," the authors concluded.

Comenzo and his coauthors published their study in Blood (Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. Blood, 2006;107(9):3489-3491).

For additional information, contact Raymond L. Comenzo, Department of Pathology, Howard 802, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York City, NY 10021, USA. E-mail: comenzor@mskcc.org.

The publisher's contact information for the journal Blood is: American Society of Hematology, 1900 M Street NW, Suite 200, Washington, DC 20036, USA.

Keywords: New York, New York, United States, Genetics and Genomics, Amyloidosis Diagnosis, Genetic Disorder, Amyloid Proteins, Gammopathies, Polymerase Chain Reaction, Proteomics, Diagnostics.

This article was prepared by Hematology Week editors from staff and other reports. Copyright 2006, Hematology Week via NewsRx.com.