The Autoimmune Connection: Essential Information for Women on Diagnosis, Treatment, and Getting On With Your Life (23 page)
Authors: Rita Baron-Faust,Jill Buyon
More Than a Dry Spell—Sjögren’s Syndrome
I started having dryness symptoms in my middle forties. I kept complaining about dry mouth to my dentist, but he didn’t seem concerned about it. I had lots of cavities, and I didn’t realize then that lack of saliva can cause your teeth to deteriorate. I had dry mouth for three or four years, but it started to become much worse. I found I couldn’t eat anything. I was totally without saliva and could hardly swallow. As it turned out, there was a saliva specialist at the university where I work.
My husband urged me to see him, but I said, “Why should I see a saliva specialist if I don’t have any saliva!” But my husband insisted, and I finally went. The specialist told me right away I probably had Sj
ö
gren’s.I had never heard of it before. When he asked me about dry eyes and eye pain, until then I hadn’t realized that the shooting pains in my eyes were from dry spots. I simply connected my dry mouth to my eyes.
E
VELYN
, 52
H
aving
Sjögren’s syndrome
is like wandering in a desert, thirsting for a cool drink of water. Sometimes you’re so dry that nothing can quench your thirst or make your mouth feel moist. Your eyes feel gritty and painful, and after a while other parts of the body, such as the vagina, can become dry as well.
Sjögren’s syndrome is actually the second most common autoimmune rheumatic disease after rheumatoid arthritis. The Sjögren’s Syndrome
Foundation (SSF) estimates that two to four million people may be affected, 90 percent of whom are women. Sjögren’s often accompanies other autoimmune disorders like rheumatoid arthritis or lupus (in this case, it’s called
secondary Sjögren’s
), but 50 percent of patients have Sjögren’s that occurs on its own (
primary Sjögren’s
).
Years ago, you might never have heard of Sjögren’s unless you were diagnosed with it. But all that changed in 2011 when tennis champion Venus Williams revealed that she had Sjögren’s, putting the disease on the map. She’s now the Honorary Chairperson of the Sjögren’s Syndrome Foundation Awareness Ambassador Program.
Williams, 35, who has won more than 45 singles titles in her career, including Grand Slams like the U.S. Open and Wimbledon, doesn’t comment much publicly on her Sjögren’s. It has caused her back pain and fatigue, but she doesn’t let it slow her down.
“What else am I going to do, get down?” she told sportswriters in Cincinnati in 2013. “The same amount of time you spend down is the amount of time you can spend up. I don’t like being down.”
1
Still, she’s made some accommodations. “In the past, I would train until I died. Now, because of Sjögren’s syndrome, I have to be careful. If I train too hard, then I won’t be able to do anything the next day. There would be times when I’d park my car at home, and I fell asleep behind the wheel because I was so tired! It’s a balance between pushing myself as much as I can and being reasonable about what I can achieve and what my body will tolerate,” she told
ESPN Magazine
in July 2014.
2
“You are so tired it hurts,” she continues. “At my worst point, I wasn’t able to play tennis at all. Just the whole quality of my life was compromised—and uncomfortable. It’s very difficult to understand unless you’ve gone through it. Especially as a professional athlete, there’s never any acceptable excuse. You push and you push and you’ll die on the court if you have to, but you get it done. The whole experience is just foreign as an athlete. You have to accept that you’re never going to be 100 percent. So, how do you get past those roadblocks?”
“There is never not an answer,” says Williams. “For me, that’s the solution. If I have to work hard or think hard or just copy somebody else that’s doing it better—whatever it takes, I’m going to find that solution. That’s the drive that keeps me going.”
2
In Sjögren’s, the disease process targets the body’s moisture-producing glands: the
lacrimal
glands that produce tears (located within the upper and outer margins of the eye socket and in the eyelid) and the three glands that produce saliva—the
sublingual
salivary gland (located under the tongue), the
submandibular
salivary gland (beneath the jaw), and the
parotid
glands (deep within the angle of the jaw in front of the ear). These are called
exocrine
glands because they have ducts and don’t secrete hormones and other substances directly into the blood. Sjögren’s also targets moisture-producing tissues, including mucous membranes in the nose, vagina, and lungs.
The moisture-producing glands are regulated by the
autonomic nervous system
that governs automatic functions like breathing and blood pressure. As these glands become damaged by activated immune cells, they may be less able to respond to signals from an area of the brain that handles sensory input and triggers production of tears or saliva (for example, your mouth watering at the sight or smell of food). At the same time, inflammatory molecules (
cytokines
) released by immune cells may lead to damage to nerves (as well as diminished production of
neurotransmitters
) that stimulate the salivary or tear glands. In addition, these activated immune cells don’t undergo normal programmed cell death, so they accumulate to perpetuate the autoimmune response.
The dry eyes of Sjögren’s are caused by low tear production due to destruction of the lacrimal glands and dysfunction of the tiny glands behind the eyelashes that secrete oil that prevents tears from evaporating (
meibomian glands
).
Your tears are actually made up of three layers: the
mucin
layer on the surface of the eye is made up of secretions from the cornea and glands scattered throughout the
conjunctiva
(the mucous membrane covering the lining of the eyelids and outside of the eyeball); the middle,
aqueous
, layer is largely made up of water and proteins from the lacrimal glands; the outer layer, called the
lipid layer
, is made up of fatty secretions from oil glands in the eyelids (
meibomian glands
).
The mucin layer provides lubrication for the cornea; without it, dry spots develop and cause discomfort. The aqueous layer of tears provides key proteins that protect the eye against bacteria. The lipid layer of the tear film prevents excessive evaporation of tears; if the lipid layer is inadequate, the tear film evaporates. Every time you blink, your eyelids distribute the tear film over the surface of the eye and lubricate it; if there’s not enough tear film, the eyelid won’t move as smoothly over the surface of the eye, causing
the gritty sensation that also characterizes Sjögren’s. In fact, this evaporative problem is thought to contribute to 80 percent of all cases of dry eye, says David A. Sullivan, MS, PhD, senior scientist at the Schepens Eye Research Institute in Boston.
Tear Film Layers
“It used to be thought that inadequate aqueous tears were the main problem in Sjögren’s. But women with Sjögren’s also have meibomian gland dysfunction and don’t have enough oil in the tear film. So the tear film is unstable and evaporates,” explains Dr. Sullivan, also an associate professor of ophthalmology at Harvard Medical School.
One underlying risk factor for the development of evaporative dry eye may be androgen deficiency (low levels of male hormones).
3
Androgens play a key role in the function of the meibomian glands and also serve to dampen inflammation in the lacrimal glands, says Dr. Sullivan.
While Sjögren’s can emerge at any age, women typically develop the syndrome between ages 45 and 55, when androgens and estrogens decline.
In the case of mucous membranes and other tissues that produce moisture, cytokines may interfere with the normal passage of fluid onto the surface of those tissues, such as those in the vagina. Without moisture, these tissues become uncomfortably dry and ulcerated. Almost 70 percent of women with Sjögren’s experience dry vagina, and most of them find sex uncomfortable if not painful.
4
The disorder can also affect organs such as the lungs, kidneys, and liver, as well as blood vessels.
What triggers the autoimmune reaction in Sjögren’s is unknown. Several genes are associated with Sjögren’s, and the disorder tends to cluster in families. According to the Sjögren’s Syndrome Foundation, around 12 percent of patients have one or more relatives (usually female) with Sjögren’s.
It’s possible that a viral infection or other injury may set off an immune reaction in genetically susceptible people. Some research suggests a role for
Epstein-Barr virus (EBV)
. The virus lies dormant in the salivary glands for years and can be reactivated, perhaps during other viral infections. However, since most people have been exposed to EBV, the virus alone is not thought to be a trigger. EBV has also been implicated in multiple sclerosis and lupus.
5
When you have Sjögren’s, you’ll typically have a gritty or burning sensation in the eyes, eyelids that stick together, mucus accumulation in the inner corners of the eyes usually when you awaken, itching, sensitivity to light, blurred vision, and discomfort and difficulty reading or watching television. You may notice a “filmy” effect that interferes with vision. Symptoms often worsen as the day goes on.
The symptoms of dry eye result from increased friction due to insufficient tears and evaporation of the tear film. In some cases, the eyelid may actually stick to the conjunctiva or corneal surface and can literally pull epithelial cells away from the surface, causing erosions. Dry eye, discomfort, inflammation, and defects in the surface layer of the conjunctiva and cornea are called
keratoconjunctivitis sicca (KCS)
. Ironically, people with dry eyes may notice excessive tearing at first, as the eye compensates by producing more “reflex” tears, tears usually produced when there’s a foreign body in the eye or other irritation. But women with Sjögren’s are less able to produce reflex tears.
Sjögren’s also affects the production of saliva. Saliva is actually a mixture of mucins, water, nutrient proteins, and growth factors that provide lubrication for the tongue for speaking, swallowing, and washing away bacteria and toxins from the surface of the teeth and mucous membranes. Loss of saliva is associated with increased cavities; fillings may also loosen or break down more quickly, you may also get oral yeast infections, and you have mouth discomfort.
Dry mouth symptoms (
xerostomia
) can include a burning sensation on your tongue or mucous membranes in the mouth (“burning mouth syndrome”), and you may have problems with chewing or swallowing food. For example, being unable to swallow dry foods like crackers without fluid is a frequent complaint. Your mouth may feel dry and sticky and you can develop cracks in the tongue or corners of the mouth (often due to yeast), problems with taste or smell, and a constant need to drink liquids. Many women need to keep water at their bedside. The combination of dry eyes and dry mouth is also called
sicca syndrome
.
The
parotid glands
, the largest of the salivary glands (the same glands affected by the mumps) may also be enlarged or hardened. In fact, if you had mumps as a child and seemed to get it again as an adult, it’s not mumps but may be a sign of Sjögren’s. You may also have yeast infections in the mouth.
There can be drying of the nasal passages with crusting and nosebleeds and throat hoarseness, as well as dry and irritated vaginal tissues.
Around 40 to 50 percent of primary Sjögren’s patients have what’s called “small fiber neuropathy,” with pain, prickling, tingling, or burning in the forearms and legs and, in some cases, problems with bowel motility or difficulty sweating.
6
It’s believed to be caused by dysfunction or reduced numbers of tiny nerve fibers beneath the
epidermis
(the tissue just under the skin’s surface), and other areas.
Another major problem is fatigue—experienced by 60 to 70 percent of women with Sjögren’s syndrome.
7
Again, we’re not talking about feeling tired from lack of sleep, but a unique kind of tiredness that you can’t predict or control. Rheumatologists are now paying more attention, but it’s still something you need to bring up with your doctor.
In a recent report in
Arthritis Care & Research
, a group of Sjögren’s patients described how when fatigue hit, their body would stiffen up and become painful and feel as if it had “run out of energy,” “given up,” or “had flat batteries,” forcing them to put their life on hold
7
:
“I never felt tired when I was healthy—I was always very involved in things and had lots of energy. So this is a real difference. Of course I was often tired when I had small children and was pregnant and everything, but you know, then you could just go to sleep and afterwards it was better. But this doesn’t work now. Now it feels sort of lethargic, my body feels heavy and I never get my energy back. It’s like my body’s lost all its fervor in a way. I just don’t have the energy I used to have. In my head I want to do everything I did before and then it just doesn’t work. It’s exhausting just peeling potatoes—everything takes so long,”
7
one woman remarked.
“When I have my usual tiredness I just decide that today I’ll do what I have to. But I can’t do this when I get these waves of tiredness—I just have to sort of give up. It goes up and down a bit but I have this sort of constant tiredness all the time, and sometimes I feel absolutely empty of energy.”
7
There may also be joint pain, fever, dry skin, allergic skin reactions, and sleep disturbances, waking up with a dry mouth, drinking water, and then having to urinate more often, as well as gastrointestinal problems like constipation, all of which people may not associate with the disorder.
Sjögren’s can also affect many systems in the body, including the nerves, kidneys, and lungs. It can cause peripheral nerve problems (
neuropathy
), lung inflammation (
interstitial pneumonitis
), and kidney dysfunction (
renal tubular acidosis
). Symptoms of lung problems in Sjögren’s are shortness of breath and exercise intolerance.
Sjögren’s symptoms can also mimic other conditions. The drying of vaginal tissues is often blamed on menopause; eye irritation may be attributed to conjunctivitis. Joint pain and fatigue may be blamed on lupus or rheumatoid arthritis, and nerve-related symptoms can be similar to multiple sclerosis. Not surprisingly, Sjögren’s can be tricky to identify. A survey of SSF members found that 25 percent spent over five years trying to get an accurate diagnosis.
Women with Sjögren’s also have an increased risk of
lymphoma
(malignancy of the lymph glands). So it’s imperative to be carefully followed by an internist. Any lymph node lump in the neck, underarm, or groin should be investigated immediately. However, less than 10 percent of Sjögren’s patients develop lymphoma.
Evelyn’s story continues:
At the salivary dysfunction clinic, the first test I had was a “resting saliva” test. I sat for five minutes without swallowing and then spit into a little cup, and he looked at what I produced, which was a little blob of what looked like glue. He turned the cup upside down and it didn’t move. Then he gave me a stimulated saliva test, where you chew a little piece of wax to stimulate saliva production. As you chew you spit out what’s in your mouth, and I didn’t produce much of anything. Then he ran a series of blood tests, then sent me to an ophthalmologist, who confirmed the diagnosis. Getting a diagnosis was extremely helpful to me. I now do a fluoride treatment with my teeth every night, and I avoid eating foods with sugar. Without saliva, there’s nothing to protect your teeth. That made a real difference. I’ve had a few cavities, but nothing like the kind of major dental work I had before.