Rare Disease Report: Is Sjorgen Syndrome a Rare Disease?

July 4, 2017

By James Radke at Rare Disease Report

According to the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health (NIH), Sjogren’s syndrome is not a rare disease, but based on data presented at the Annual European Congress of Rheumatology (EULAR 2017), it can be argued otherwise.

Sjorgen syndrome is an autoimmune disease characterized as a person with chronic dry eyes and mouth. It is often associated with disorders such as rheumatoid arthritis or systemic lupus erythematosus. The data presented at  EULAR 2017 in Madrid indicates that the disorder, with a prevalence of 53,000 in the United States, is rare.    That is, though, only the prevalence if doctors correctly diagnose the patient based on recommended guidelines, and that is often not the case for a variety of reasons; most notably, the symptoms (dry mouth, eyes) can be managed with over the counter medications. Additionally, the tests to properly diagnose Sjorgen (ocular dryness objective assessment, salivary gland functional or morphologic tests, or salivary gland biopsy) may not be deemed necessary for the physician to make a diagnosis at all.

The study by Maciel and colleagues used data from the Rochester Epidemiology Project (REP) utilizing medical records of patients living in Olmsted County, Minnesota on January 1, 2015, and a total of 105 patients were reported to have primary Sjogren’s syndrome. Expanding those numbers to the entire United States population would give a prevalence of 248,000 people with the condition (35,000 males and 213,000 females).   When the researchers looked at medical records to determine if patients met the American-European Consensus Group or American College of Rheumatology criteria for a Sjorgen syndrome diagnosis, they found that only 22% did. According to these estimates, there are about 53,000 correctly diagnosed peope with Sjorgen syndrome in the U.S.   Because “rare disease” is currently defined as any disease with less than 200,000 people in the U.S., wsing the famous Olmsted County, Minnesota epidemiology dataset, it can be concluded that Sjorgen syndrome, is a rare condition.


Maciel G, Crowson C, Matteson E,  Cornec D. Prevalence of primary Sjorgen syndrome in a population based cohort in the United States. Presented at Annual European Congress of Rheumatology (EULAR 2017); Madrid, Spain, June 14-17, 2017. Abstract FR10278.

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