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Diseases

Genetic and Rare Diseases Information Center (GARD)

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AL amyloidosis


Other Names for this Disease
  • Amyloidosis AL
  • Amyloidosis primary systemic
  • Light chain amyloidosis
  • Primary AL amyloidosis
  • Primary amyloidosis (Formerly)
More Names
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Your Question

Is it known if Chromosome X or Chromosome 16 are a factor in amyloids?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Are anomalies involving chromosomes 16 and X known to be associated with AL amyloidosis?

AL amyloidosis is frequently associated with chromosome anomalies. The anomalies that have been described in association with amyloidosis are numberous and varied. As a result, no single chromosome anomaly is characteristic for this condition.[1]

One study did find an extra chromosome X (trisomy X) in 13% of women and 54% of men with systemic amyloidosis in their study population.[2] We were not able to find a study which investigated the prevalence of chromosome 16 anomalies. One of the more common chromosome anomalies associated with systemic amyloidosis is a loss of a copy of chromosome 18 (i.e., chromosome 18 monosomy). In one study this anomaly was identifed in 72% of participants.[1]
Last updated: 9/24/2013

References
  • Fonseca R et al. Chromosomal abnormalities in systemic amyloidosis. Br J Haematol. 1998 Dec;103(3):704-10; http://www.ncbi.nlm.nih.gov/pubmed/9858220. Accessed 9/24/2013.
  • Rajkumar SV. Clinical presentation, laboratory manifestations, and diagnosis of immunoglobulin light chain (AL) amyloidosis (primary amyloidosis). In: Basow DS. UpToDate. Waltham, MA: UpToDate; 2013;