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Amyloidosis

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to James Hoffman, MD, Division of Hematology/Oncology, Sylvester Cancer Center, University of Miami, for assistance in the preparation of this report.

Synonyms of Amyloidosis

  • No synonyms found.

Disorder Subdivisions

  • familial amyloidosis
  • primary amyloidosis
  • secondary amyloidosis
  • senile amyloidosis

General Discussion

Amyloidosis is a systemic disorder that is classified into several types. The different types of systemic amyloidosis are classified as primary, secondary or familial (hereditary). Primary amyloidosis (also called AL, or ‘light chain’) is the most common type of systemic amyloidosis. AL results from an abnormality (dyscrasia) of plasma cells (a type of white blood cell) in the bone marrow and is closely related to multiple myeloma. Secondary (AA) amyloidosis is derived from the inflammatory protein serum amyloid A. AA occurs in association with chronic inflammatory disease such as the rheumatic diseases, familial Mediterranean fever, chronic inflammatory bowel disease, tuberculosis or empyema. Familial amyloidosis is a rare type of amyloidosis that is caused by an abnormal gene. There are several abnormal genes that can cause hereditary amyloidosis, but the most common type of hereditary amyloidosis is called ATTR and caused by mutations in the transthyretin (TTR) gene.

Senile amyloidosis, in which the amyloid is derived from wild-type (normal) transthyretin, is a slowly progressive disease that affects the hearts of elderly men. Amyloid deposits may occasionally occur in isolation without evidence of a systemic disease; isolated bladder or tracheal amyloid are the most common such presentations.

Amyloidosis Resources

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

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