Sjögren’s and Klinefelter Two Conditions that Challenge Diagnosis

When pro tennis star Venus Williams dropped out of the 2011 U.S. Open, she called national attention to Sjögren’s syndrome, an autoimmune disease in which the immune system attacks the body’s own moisture-producing glands. Williams revealed that she had been diagnosed with Sjögren’s earlier that summer and had been coping with symptoms—dry eyes, dry mouth, joint pain, and profound fatigue—that left her feeling unable to compete.

At the time, Williams told the press that she had been suffering from symptoms for several years, but didn’t know the cause until she was diagnosed. According to Denise L. Faustman, M.D., Ph.D., director of the Immunobiology Laboratory at Massachusetts General Hospital and associate professor of medicine at Harvard Medical School in Boston, Williams’ case is typical. “Reports say that it takes roughly seven years from the time patients initially experience symptoms to the time they’re diagnosed.”

The reason for this delay is the broad range of symptoms, she said. “Dry mouth gives you a problem with cavities, so the dentist will say you need to brush your teeth more. Dry eyes give you a problem with contact lenses, so the eye doctor will tell you to switch to glasses. Fatigue can be from anything. Sjögren’s is a cryptic disease.”

Indeed, diagnosis is a three-specialty process, said Alan Baer, M.D., director of the Jerome L. Greene Sjögren’s Syndrome Center and associate professor of medicine at the Johns Hopkins Division of Rheumatology in Baltimore. “It’s a coordinated evaluation by rheumatologists, ophthalmologists, and oral surgeons or oral pathologists.”

Methods for diagnosing Sjögren’s include a blood test to determine the presence of certain antibodies, ocular staining in which the surface of the eye is treated with a vegetable dye to reveal damaged cells, and a biopsy of salivary glands from the inner lip to check for injury. In the April 2012 issue of Arthritis Care & Research, the American College of Rheumatology published new guidelines recommending that clinicians use these tests as a standard for diagnosis. Another common test involves placing a strip of filter paper in the lower eyelid to measure tear production.

Yet even with these tests, diagnosis is tricky. “The same antibodies are also seen in lupus and rheumatoid arthritis,” explained Baer. “Also, clinicians tend to be reluctant to perform lip biopsies, and the results are often interpreted incorrectly by pathologists.”

Because the symptoms are so broad, it’s difficult to know when to suspect Sjögren’s and get tested, Baer added. “Dry eyes and mouth become more common as you get older, and only a small percentage of people with those [symptoms] will actually have Sjögren’s. But if the problems increase and there are also systemic symptoms such as joint pain or fatigue, or there is swelling of lacrimal [tear] or salivary glands, that should prompt your doctor to think about Sjögren’s.”

Faustman notes that autoimmune diseases tend to cluster in both individual patients and in families. “If you have one autoimmune disease, that signals to me to look for others. Or if there is a family history of autoimmune disease—one person has hypothyroidism, another has Crohn’s disease, another has rheumatoid arthritis— that will raise a flag.”

Gender is also a consideration: 90 percent of the nation’s estimated 3 million people with Sjögren’s are women.

Currently, there is no cure for Sjögren’s. Treatment focuses on alleviating symptoms, said Baer. “We can treat dry eyes with artificial tears and we can use products for dry mouth, but we aren’t able to alter the immune process yet.”

In an effort to provide their patients with short-term relief, some doctors prescribe drugs approved by the U.S. Food and Drug Administration for other conditions, a strategy known as “off-label” use. These drugs include the corticosteroid prednisone, which suppresses the immune system and helps to bring down inflammation in the joints, and the anti-malarial drug quinine. However, these drugs are not recommended for long-term use because of possible side effects.

Although Sjögren’s is incurable, patients can take steps to minimize their symptoms. Baer recommends using a humidifier as necessary and avoiding dry or windy environments. He also notes that certain antidepressants and drugs that treat overactive bladder and gastrointestinal conditions can make symptoms worse, mainly because their side effects include decreased saliva production.

Williams has said that adopting a vegan diet has helped her battle the condition and continue competing. Although a specific “Sjögren’s diet” is not known, the Sjögren’s Syndrome Foundation recommends an “antiinflammatory diet” that emphasizes whole fruits and vegetables, healthy fats like omega 3 oils, fiber, and moderate amounts of organic meat. The anti-inflammatory diet also curtails consumption of trans or hydrogenated fats, refined oils, processed foods, red meat, and artificial sweeteners and preservatives; evidence suggests that these foods promote inflammation.

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