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Genetic and Rare Diseases Information Center (GARD)

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Relapsing polychondritis


Other Names for this Disease
  • Chronic atrophic polychondritis
  • Recurrent polychondritis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My mom was diagnosed with relapsing polychondritis about ten years ago.  Her's was a very serious condition. I was just wondering if it is genetic. As far as we know I have no other family history of this condition. I just worry for my future and possibly my kids. And also is there any type of genetic tests that can be done to see if I will end up having what my mom has or anything else weird.

Our Answer

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

Is relapsing polychondritis inherited?

Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives.[1]

Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis.[2]
Last updated: 4/21/2015

What is known regarding the genetics of relapsing polychondritis?

Very little is known regarding the genetics of relapsing polychondritis. However, studies have found that people with relapsing polychondritis (RP) are roughly twice as likely as those without this condition to carry a certain genetic allele (or form of a gene) called HLA-DR4. "HLA" stands for human leukocyte antigen. Human leukocyte antigens are an important part of our immune system and play a role in resistance and predisposition (risk) to disease.[3] It is not uncommon for immune system diseases to be found in association with certain HLA alleles. Often times the basis of these associations are unknown; much evidence suggests that the HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk.

Because HLA-DR4 alleles are common in the general population, testing of this allele is uninformative in calculating individual risk for RP.
Last updated: 4/21/2015

How can I learn more about my health risks?

When seeking information on your personal genetic health risks, a good place to start is to collect a detailed family health history. There are many online tools available to help you do this, including the "My Family Health Portrait" tool develop by the US Surgeon General (see: http://www.hhs.gov/familyhistory/) and the "Community Centered Family Health History" tools developed in partnership with the Genetic Alliance (see: http://www.geneticalliance.org/ccfhh). Once you have completed your family health history, share a copy with your healthcare provider. We recommend that you dicuss your concerns regarding your health risks with your doctor. 
Last updated: 7/17/2013

References
Other Names for this Disease
  • Chronic atrophic polychondritis
  • Recurrent polychondritis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.