Format

Send to

Choose Destination
Blood. 2009 Oct 8;114(15):3147-57. doi: 10.1182/blood-2009-04-202879. Epub 2009 Jul 17.

How I treat amyloidosis.

Author information

1
Blood Bank, Stem Cell Processing Laboratory and Neely Cell Therapy Center, Tufts Medical Center, Boston, MA 02111, USA. rcomenzo@tuftsmedicalcenter.org

Abstract

Amyloidosis is an uncommon disorder in which proteins change conformation, aggregate, and form fibrils that infiltrate tissues, leading to organ failure and death. The most frequent types are light-chain (AL) derived from monoclonal B-cell disorders producing amyloidogenic immunoglobulin light chains, and the hereditary and "senile systemic" (ATTR) variants from mutant and wild-type transthyretin (TTR). Diagnosis requires tissue biopsy. AL is more frequent and causes more organ disease than ATTR. Although both can cause cardiomyopathy and heart failure, AL progresses more quickly, so survival depends on timely diagnosis. Typing is usually based on clinical and laboratory findings with monoclonal gammopathy evaluation and, if indicated, TTR gene testing. Direct tissue typing is required when one patient has 2 potential amyloid-forming proteins. In coming years, widespread use of definitive proteomics will improve typing. New therapies are in testing for ATTR, whereas those for AL have followed multiple myeloma, leading to improved survival. Challenges of diagnosing and caring for patients with amyloidosis include determination of type, counseling, and delivery of prompt therapy often while managing multisystem disease. Recent advances grew from clinical research and advocacy in many countries, and global husbandry of such efforts will reap future benefits for families and patients with amyloidosis.

PMID:
19617578
DOI:
10.1182/blood-2009-04-202879
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center