Multiple Autoimmune Syndrome
Are Genes the Key?

Does having one autoimmune disease mean that you may be more susceptible to other autoimmune diseases?  The answer to that, according to studies, is yes.  About 25 percent of patients with autoimmune diseases have a tendency to develop additional autoimmune diseases.  Genetic, infectious, immunologic and psychological factors have all been implicated in the development of multiple autoimmune syndrome.

Multiple autoimmune syndrome (MAS) requires 3 or more autoimmune conditions in a patient. There are over 80 autoimmune and autoinflammatory disorders, which occur when the immune system malfunctions and starts to destroy normal tissue instead of foreign invaders.  MAS can be classified into three groups: Type 1, Type 2 and Type 3.  Multiple Sclerosis is not one of the autoimmune diseases most likely to be present in multiple autoimmune syndrome, although it is occasionally present in Type 3 MAS.

Multiple sclerosis has been associated with certain specific autoimmune diseases, however, as well as other diseases including thyroiditis, inflammatory bowel disease (IBD), ulcerative colitis, type 1 diabetes mellitus, pernicious anaemia, uveitis, seronegative spondyloarthropathies, bipolar disorder, asthma and melanoma.  Having others in your family with autoimmune diseases can also increase your risk of an autoimmune disease such as MS.  One study states, “Family history of other autoimmune diseases was associated with a higher MS risk, suggesting a common genetic background or shared environmental triggers.”1

Scientists believe that some genes may predispose individuals to one or more diseases, whereas other genes may predispose people to autoimmune and autoinflammatory disease in general. Until very recently, scientists could not pinpoint which genes might play a part in triggering these diseases.   In March of 2007, however, the New England Journal of Medicine published a study which targeted a region on chromosome 17 called NALP1.  Dr. Richard Spritz, Director of the Human Medical Genetics Program at the University of Colorado said, “This is one of probably many genes that predispose to autoimmunity, but it looks like it may be involved in a pretty big way.”2   In October of 2007 two other genes, ARTS1 and IL23R, were linked to 4 autoimmune diseases, including MS.

Scientists believe that identifying genes associated with autoimmunity may help with faster and earlier diagnosis and may lead to ways to “turn off” certain genes in people who are at risk for autoimmune diseases.  Dr Spritz explains, “This part of the immune system may respond to triggers coming from the environment, like bacteria or viruses, and there are indications that you can turn it off.  So we’re very, very hopeful that there may be drugs that allow us to do that.”  Spritz added, “That’s not going to help people with childhood diabetes, where the damage is already complete.  But for a number of chronic autoimmune disorders…if you turn off the autoimmune process, the body could repair itself.”3

Until such time, people with one autoimmune disease, or with a family history of autoimmune diseases, should be aware of a tendency to develop additional autoimmune disorders.  The conclusion of one study said, “This…highlights the need for awareness of the possibility of multiple autoimmune phenomena, which also indicates the need for continued surveillance for the development of new autoimmune diseases in predisposed patients.”4  

Endnotes & Bibliography

1. Alonso A, Hernan, MA, Ascherio A. Allergy, family history of autoimmune diseases, and the risk of multiple sclerosis. Acta Neuro Scand, January 2008;117(1):15-20.
2. Gardner, Amanda.  Scientists Pinpoint Gene Behind Autoimmune Diseases.  ScoutNews, LLC. 2007.
3. Gardner, Amanda.  Scientists Pinpoint Gene Behind Autoimmune Diseases.  ScoutNews, LLC. 2007.
4. Tesavibul, Nattaporn, MD. Multiple Autoimmune Diseases.  MERSI Ocular Immunology and Uveitis Foundation. Accessed January 2008.

Barclay, Laurie MD.  Two Genes May Be Associated With 4 Mayor Autoimmune Disorders.  Nature Genetics. October 2007.

Boyles, S.  Studies Show Greater Risk of Autoimmune Disorders for People with Inflammatory Bowel Disease.  WebMD Medical News. 2005.

Criswell, L.A., Pfeiffer, K.A., et. al.  Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes.  American Journal of Human Genetics. 76:000-000. 2005.

Edwards, LJ, Constatinescu, CS.  A prospective study of conditions associated with multiple sclerosis in a cohort of 658 consecutive outpatients attending a multiple sclerosis clinic.  Mult. Scler. October 2004; 10(5):575-81. 

Jin, Ying MD, PhD, Mailloux, Christina, BS, et. al. NAPL1 in Vitiligo-Associated Multiple Autoimmune Disease.  NEJM Vol 356:1216-1225. March 2007.

Kotilainen, P, Airas, L, et. al.  Riedel’s thyroiditis in a patient with multiple sclerosis.  Neuro Endocrinol Lett. February 2005. 26(1):67-8.

Moore, Elaine.  Multiple Autoimmune Syndrome.  Suite 101.com. April 2007.

Pelidou, S., Tsifetaki, N., et. al.  Multiple sclerosis associated with systemic sclerosis.
Rheumatology International.  Vol 27, No. 8, pp.771-773(3).  June 2007.

Perkel, J.  Scientists Spot Key Autoimmune Disease Genes.  Nature Online Ed. January 2007.

Sivera, F., Sultan, S.M., Dass, S., Emery, P.  Development of additional autoimmune diseases in a cohort of patients with systemic sclerosis. SAT0238 EULAR 2006.

Tomer, Y. MD.  Genetic Susceptiblity To Autoimmune Endocrine Disorders.  Infocus.  Vol. 12 No. 3, September 2004.

Zerhouni, Elias MD.  Autoimmune Diseases Research Plan.  National Institutes of Health. December 2002.

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