Journal
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY
Volume 17, Issue 6, Pages 909-927Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.berh.2003.09.001
Keywords
annyloid; annyloidosis; hereditary; transthyretin; cardionnyopathy; neuropathy
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Funding
- NCRR NIH HHS [RR-00750] Funding Source: Medline
- NIA NIH HHS [AG 10133] Funding Source: Medline
- NIDDK NIH HHS [DK42111] Funding Source: Medline
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Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by (beta-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary). The challenge diagnostically is to recognize hereditary annyloidosis as a distinct entity and then to determine the specific type of genetic disease. There are several types of hereditary annyloidosis and precise diagnosis is essential for proper therapy and genetic counselling. This chapter strives to present the subject of hereditary annyloidosis in a way which facilitates understanding of the disease, of the means for diagnosis, of the present and possible future therapies, and of the importance of combined basic and medical research.
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