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Genetic and Rare Diseases Information Center (GARD)

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Hereditary amyloidosis


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


Hereditary amyloidosis refers to a group of inherited conditions that make up one of the three major subtypes of amyloidosis. Hereditary amyloidosis is characterized by the deposit of a specific type of protein called amyloid in multiple organs of the body where it should not be, which causes disruption organ tissue structure and function. Each type of hereditary amyloidosis is the result of a mutation in a specific protein. The most common type of hereditary amyloidosis is transthyretin amyloidosis, a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. The signs and symptoms of transthyretin amyloidosis (A TTR) may include peripheral neuropathy; cardiomyopathy; or gastrointestinal, kidney, or eye problems. 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).[1]
Last updated: 9/16/2011

References

  1. Benson MD. The hereditary amyloidoses. Best Practice & Research Clinical Rheumatology. 2003;
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Hereditary amyloidosis have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The Amyloid Treatment and Research Program at Boston University School of Medicine provides information on the treatment of different forms of amyloidosis. Click on the link to view this 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.