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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary amyloidosis


Other Names for this Disease
  • Familial amyloidosis
  • Amyloidosis hereditary
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Overview

Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function.[1] In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system.[2] While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood.[3] There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examples of hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII).[4] Most types of hereditary amyloidosis are inherited in an autosomal dominant manner.[3] Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.[4] 
Last updated: 7/19/2016

References

  1. Benson MD. The hereditary amyloidoses. Best Practice & Research Clinical Rheumatology. 2003; http://www.ncbi.nlm.nih.gov/pubmed/15123043.
  2. Hereditary Amyloidosis. MedlinePlus. 10/27/2015; https://medlineplus.gov/ency/article/000368.htm.
  3. Rowczenio DM, Noor I, Gillmore JD, Lachmann HJ, Whelan C, Hawkins PN, Obici L, Westermark P, Grateau G, Wechalekar AD. Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations. Hum Mutat. Sep 2014; 35(9):E2402-12. http://www.ncbi.nlm.nih.gov/pubmed/25044787.
  4. Hereditary Amyloidosis. Amyloidosis Foundation. http://www.amyloidosis.org/facts/familial/. Accessed 7/19/2016.
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Basic Information

  • The Mayo Clinic provides information on the diagnosis and treatment of amyloidosis.
  • Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary amyloidosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Familial amyloidosis
  • Amyloidosis hereditary
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.