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The Hereditary Amyloidoses

  • Merrill D. BensonEmail author
Part of the Current Clinical Pathology book series (CCPATH)

Abstract

Systemic amyloidosis can be caused by mutations in a number of plasma proteins. Some of these plasma proteins have many mutations which lead to amyloid fibril formation although some mutations in these same proteins appear to be non-amyloid initiators. Each of the hereditary amyloidoses is an autosomal dominant disease with only one copy of a mutant allele necessary for the expression of the clinical disease. While many of the hereditary forms of amyloidosis share clinical features of the systemic disease, there are many variations of the theme which make diagnosis and considerations of treatment, either specific or nonspecific, to be challenging to the clinician.

Keywords

Familial amyloidosis Transthyretin Apolipoprotein AI Apolipoprotein AII Cystatin C Fibrinogen Aα-chain Lysozyme Gelsolin 

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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  1. 1.Department of Pathology and Laboratory MedicineIndiana University School of MedicineIndianapolisUSA

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