Misdiagnosis hinders treatment of Sjogren’s
Posted on Monday, April 21, 2008
URL: http://www.nwanews.com/adg/News/223469/
About 12 years ago, Joyce Ahart’s joints began to ache, she had rashes on her legs, and her eyes were chronically dry. She never imagined her symptoms were all connected.
“I was just blinking and miserable all the time,” the Little Rock resident said. “My eyes just burned. Nothing seemed to help them.”
Four years and several specialists later, she was diagnosed with Sjogren’s Syndrome, a little-known autoimmune disease.
Ahart, 72, is among 1 million to 4 million people in the United States who suffer from Sjogren’s, according to the National Institutes of Health. Pronounced “SHOW-grins,” the disease shuts down moistureproducing glands such as the salivary glands, tear ducts and mucous membranes lining the digestive tract.
“It actually affects more people than multiple sclerosis, more people than breast cancer, more people than lupus,” said Steven Taylor, chief executive officer of the national nonprofit Sjogren’s Syndrome Foundation.
It affects 1 percent to 2 percent of the world’s population, he said. About 90 percent of Sjogren’s patients are women, and most are diagnosed around age 50.
Symptoms vary greatly in se- verity and type, and can include dry mouth and eyes, joint pain, increased tooth decay, trouble swallowing, chronic fatigue and digestive problems. In the most severe cases, the disease attacks organs and can lead to lifethreatening complications.
It can take patients years to get a diagnosis, Taylor said. Patients often are told they are suffering symptoms of allergies, menopause or high blood pressure.
“The challenge is that many of our patients go to different specialists for their various symptoms, and no one’s ever linking them together,” Taylor said. “Most people wouldn’t think that their dry eyes and their dry mouth is tied to their decaying teeth and joint pain.”
Lillie Major, 89, said her first noticeable symptoms hit when she was about 50. Her eyes were severely dry, but her ophthalmologist attributed it to her age. Then, she was hit with extreme fatigue. “I got so tired I couldn’t function,” she said. “I just wanted to sleep all the time.” A former foreign language teacher with the Little Rock School District who always was active in the community, Major found that she had to scale back on projects and volunteering. Doctors finally diagnosed her with Sjogren’s after a blood infection put her in the hospital at age 70. Major is now president of the Little Rock branch of the Sjogren’s Syndrome Foundation. The support group has a core group of about 25 members.
RESEARCH Last year, the National Institutes of Health gave $ 3. 9 million for research into Sjogren’s, which has no cure. The Sjogren’s Syndrome Foundation has expanded its fundraising efforts in recent years and is giving $ 250, 000 in research grants this year, up from $ 70, 000 in 2003.
Based in Bethesda, Md., the nonprofit foundation was founded in 1983 and has 78 support groups nationwide, Taylor said.
The National Institute of Dental and Craniofacial Research, part of the National Institutes of Health, is collecting data and patient samples for an international Sjogren’s registry to push research forward.
More than 1, 000 people have registered with the Sjogren’s International Collaborative Clinical Alliance since the sample-collection effort started four years ago, said Dr. Ava Wu, professor of oral medicine at the University of California at San Francisco, where the U. S. collections are being done.
People from about 40 states have traveled to San Francisco to be included in the registry, she said. The alliance provides some reimbursement for travel expenses.
Other registry collection sites are in Beijing; London; Buenos Aires, Argentina; Kanazawa, Japan; and Glostrup, Denmark.
“It’s just an incredible project,” Wu said. “It’s the largest collection of individuals with Sjogren’s Syndrome or elements of Sjogren’s Syndrome ever.”
About 50 percent of patients have only Sjogren’s, while the other 50 percent have Sjogren’s secondary to another disease such as rheumatoid arthritis, scleroderma or lupus. Taylor said the registry will increase research worldwide by making data and patient tissue and fluid samples readily available. “It will open many, many more doors in research,” he said.
COPING Meanwhile patients like Ahart do their best to cope with the disease. While symptoms can “sound so petty individually,” the severity and combination of them can be debilitating, she said. She went to a corneal specialist and had punctal occlusion to close the tiny holes that drain tears from the eyes, so that her eyes would better hold eyedrops.
She takes daily medications, continually drinks water and uses eyedrops “constantly all day long.”
The fatigue also can be overwhelming, Ahart said.
“You just shut down,” she said. “You’re so tired you can’t put one foot in front of the other.”
Sjogren’s patients are prescribed various medicines to fight individual symptoms.
“As with all autoimmune diseases, there’s no cure, there’s just good control,” Taylor said.
But getting a diagnosis is the first step. In a recent survey of 4, 222 Sjogren’s patients nationwide, the foundation found that it took an average of six to seven years to get a diagnosis.
Dr. Jasen Chi, a rheumatologist in Little Rock, said he sees a lot of Sjogren’s patients. Most are referred to him after seeing ophthalmologists, dentists and other specialists about various symptoms. “Unfortunately, it’s a complicated diagnosis because of the range of symptoms the patient can manifest with,” Chi said. “What I see in my practice is that Sjogren’s really goes underdiagnosed. In general in the United States, it’s not something that we’re very aware of.”
People with Sjogren’s have “overactive” immune systems, causing their white blood cells to produce an abundance of antibodies that attack the body’s exocrine glands. The disease can affect the skin and nose, lungs, liver and even the brain, he said.
“The worst-case scenario is that patients have damage to vital organs and their disease process does not go into remission,” Chi said. “It can become very problematic.”
Taylor said the two major risk factors with Sjogren’s are the disease attacking internal organs, and lymphoma, a cancer that affects a specific type of white blood cell known as lymphocytes.
Sjogren’s patients are 40 times more likely to develop non-Hodgkins Lymphoma than people without the disease.
If patients don’t know they have Sjogren’s, then they’re not being monitored for the more serious complications that can develop, he said.
Ahart and Taylor said more people need to be aware of the disease. Surveys show that more than 80 percent of women have never heard of Sjogren’s, Taylor said.
“When you look up Sjogren’s in a general medical book, it says ‘ dry eyes and dry mouth syndrome, ’” Ahart said. “That’s such a misnomer, it just chaps me.”