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The Mysterious Disease Doctors Misdiagnose Too Often
Frederick B. Vivino, MD
University of Pennsylvania School of Medicine

Special from Bottom Line/Women's Health
August 1, 2009

I t is not likely that your doctor would think of this disease if you complained of such seemingly unrelated symptoms as dry eyes, tooth decay, painful intercourse and fatigue. And although it’s the second most common autoimmune disease in the US, after rheumatoid arthritis, chances are you’ve never heard of it. But Sjögren’s syndrome -- a chronic inflammatory disorder in which disease-fighting white blood cells mistakenly attack the body’s own moisture-producing glands -- afflicts about four million Americans, 90% of them women.

Alarming: Most sufferers live with Sjögren’s (pronounced SHOW-grins) for six years or more before getting the proper diagnosis and treatment -- and that delay can lead to severe complications. Untreated, the disease triggers a widespread inflammatory reaction that can harm the lungs, kidneys, liver, pancreas, blood vessels, gastrointestinal system and central nervous system. Up to 30% of patients suffer organ damage, and about 5% develop lymphoma (lymph node cancer).

With proper treatment, however, such complications often can be avoided. Here’s what women need to know to protect themselves...

MAKING SENSE OF SYMPTOMS

Sjögren’s symptoms mimic those of numerous other diseases. Some doctors wrongly ascribe patients’ complaints to multiple sclerosis, lupus, fibromyalgia, Lyme diseaseor chronic fatigue syndrome. Sjögren’s typically appears at midlife, so its symptoms often are attributed to menopause. Worse, because patients typically look better than they feel, many are dismissed as hypochondriacs.

Viewed in isolation, the various symptoms don’t seem related. How could one disease cause eye irritation and tooth decay? Vaginal discomfort and joint pain?

Explanation: When the body’s immune system attacks the glands that produce tears and saliva, the eyes become painfully dry... and the teeth, robbed of cleansing saliva, begin to rot. A lack of lubrication in vaginal tissues makes sex uncomfortable. And, ultimately, Sjögren’s is a systemic disease -- meaning it eventually involves the entire body -- which explains joint pain.

Here’s how Sjögren’s can affect various areas and systems...

Eyes -- dryness, irritation, infection, corneal ulceration

Joints -- arthritis, pain, swelling

Mouth -- dryness, canker sores, tooth decay, gum disease, oral yeast infection, loss of taste, difficulty chewing and swallowing

Skin -- itching, rash, sensitivity to cold

Vagina -- dryness, painful intercourse, itching, yeast infections

Digestive system -- heartburn, stomach upset, slow digestion, inflammation of the pancreas, impaired liver function

Nervous system -- concentration problems, memory loss, numbness and tingling in the extremities

Respiratory system -- nosebleeds, dry nasal passages, sinus infection, dry cough, bronchitis, pneumonia.

Adding to the confusion is the fact that not everyone with Sjögren’s experiences all the symptoms. Some have only mild discomfort, while others suffer debilitating effects. Symptoms may remain steady, grow worse or, rarely, go into remission.

What causes Sjögren’s syndrome? No one knows. Perhaps it is triggered by a virus... hormones also may play a role. No single gene causes Sjögren’s, but autoimmune diseases do tend to run in families -- so having a relative with lupus, multiple sclerosis, type 1 diabetes or another autoimmune disorder may increase a person’s risk for Sjögren’s.

GETTING A DIAGNOSIS

If you have symptoms that may be related to Sjögren’s, see your doctor or consult a rheumatologist.

Referrals: American College of Rheumatology, 800-346-4753, www.rheumatology.org.

There is no single test to confirm a diagnosis. Along with a physical exam, your physician may perform...

Blood tests to check for signs of inflammation, antibodies and elevations in immune-related blood proteins called immunoglobulins.

Dental tests to assess saliva production. A lip biopsy may be done to check for inflammatory cells in the lips’ minor salivary glands.

Eye tests to measure tear production and examine the eyes’ surface for dry spots.

Once the diagnosis is made, a patient is classified as having primary Sjögren’s if the disease occurs by itself... or secondary Sjögren’s if it occurs along with another autoimmune disorder, such as lupus or rheumatoid arthritis.

MANAGING THE DISEASE

Currently, no cure exists for Sjögren’s syndrome -- but there are treatments that help relieve symptoms and lower the risk for complications. Options for...

Eyes. Nonprescription lubricating eyedrops and gels ease discomfort and help prevent infections and ulcerations. Restasis, a prescription anti-inflammatory eyedrop containing cyclosporine, increases tear production. A surgeon can insert collagen or silicone plugs into tear ducts to help prevent ducts from draining away tears. For permanent results, a laser is used to seal off ducts.

Joints. Over-the-counter nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil) and naproxen (Aleve), relieve pain and reduce inflammation. Stronger prescription drugs, such as hydroxychloriquine (Plaquenil) or corticosteroids, may be used.

Mouth. Oral prescription medications, such as pilocarpine (Salagen) and cevimeline (Evoxac), stimulate the flow of saliva. It also helps to take frequent sips of water... suck on sugarless hard candy or chew sugarless gum sweetened with xylitol... and be scrupulous about brushing and flossing teeth.

Vagina. To relieve dryness and discomfort during sex, try a water-based vaginal lubricant, such as Astroglide or Replens. If you have persistent vaginal itching, your doctor may check for yeast infection.

Also: You may be prescribed an immunosuppressant drug, such as cyclophosphamide (Cytoxan) or methotrexate (Rheumatrex). This type of medication quiets the immune system response, helping to prevent damage to organs and tissues.

It is important to minimize exposure to triggers that exacerbate symptoms -- hot environments, forced-air heat in winter, air conditioning in summer, high winds, dust, fumes and cigarette smoke. Also, review with your doctor any other drugs that you are taking -- many are drying. These include some antihistamines, blood pressure medications, tranquilizers and antidepressants. Switching may ease Sjögren’s symptoms.

Best: Join a support group for emotional help. The Sjögren’s Syndrome Foundation (800-475-6473, www.sjogrens.org) provides information and a list of about 80 support groups nationwide.


Bottom Line/Women’s Health interviewed Frederick B. Vivino, MD, associate professor of clinical medicine at University of Pennsylvania School of Medicine, director of the Penn Sjögren’s Center and chief of the division of rheumatology at Penn Presbyterian Medical Center, all in Philadelphia. Dr. Vivino chairs the Medical and Scientific Advisory Board of the Sjögren’s Syndrome Foundation.

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