Sjögren’s Syndrome — Causes, Symptoms, Diagnosis

Sjögren’s Syndrome — Symptoms

Dry eyes and mouth (also known as “sicca syndrome”) are the most common signs of Sjögren’s syndrome. The disease, though, may affect other parts of the body as well. Symptoms typically cluster in the following categories:

Mouth
  • Thick or stringy saliva
  • Swollen salivary glands (located under the tongue, in the cheeks and along the jaw – especially the set located behind the jaw and in front of the ears)
  • Increased dental decay
  • Mouth sores or pain; dry or peeling lips
  • Loss of or change in sense of taste (dysgeusia)
  • Yeast infection in the mouth (thrush)
Eyes
  • Itching, dryness, burning and redness
  • Blurry vision
  • Feeling of grittiness (as if something like sand is in the eye)
  • Sensitivity to light
Nose, Throat and Airways
  • Impaired speaking or feeling of mouth “stuffed with cotton”
  • Persistent dry cough or hoarseness
  • Dryness in nose
  • Impairment or loss of sense of smell (parosmia/hyposmia/anosmia)
  • Difficulty swallowing or eating dry foods
Genital Area
  • Vaginal dryness

Sjögren’s syndrome can also cause swollen or painful joints, muscle pain or weakness, fatigue, dry skin, skin rashes and brain fog (poor concentration or memory). Numbness and tingling sensations in the arms and legs (paresthesia) probably correspond to progressive nerve involvement. Heartburn and inflammatory problems with kidney/lungs/liver and swollen lymph nodes are common. The parotid gland at the edge of the jaw may become swollen and inflamed in some Sjögren’s sufferers. Other patients may develop anemia and/or low white blood cell or platelet count.

Sjögren’s symptoms can vary widely from person to person and tend to worsen with stress. The disorder is highly unpredictable. There is no cure yet for this autoimmune disease. In some cases, though, it may go into remission for weeks, months or even years.

Sjögren’s Syndrome — Cause(s)

The exact cause of Sjögren’s syndrome has not yet been established. A person who develops the condition probably inherits the genetic risk from one or both parents. Then subsequently the actual condition develops after exposure to some type of environmental trigger. While there are certain genes that increase a person’s risk for Sjögren’s syndrome, those genes apparently do not act alone. It is believed that in order for a person actually to develop Sjögren’s, the immune system must first be hyperactivated by some substance from the environment – such as a viral or bacterial infection – that sends the immune system into overdrive.

Genome sequencing of Sjögren’s syndrome patients in both the U. S. and Asia has added greatly to understanding associated genetic factors. Scientists have identified at least five different risk-related major gene regions. Researchers are also evaluating the role of endocrine and nervous systems in development of the condition.

Evidence suggests that if a person’s close blood relative has Sjögren’s syndrome, then the individual is probably at significantly higher risk for it. In fact about 12 percent of Sjögren’s sufferers have one or more of their blood kin already suffering from the disease. It is also common for relatives of people with Sjögren’s syndrome to develop other types of autoimmune disease such as lupus or hypothyroidism.

While there is not yet a concrete answer as to why Sjögren’s syndrome affects women more often than men, researchers believe the hormone estrogen might play a role. One of the major risk factors associated with Sjögren’s syndrome is being a post-menopausal woman. Since it is well documented that estrogen levels in the female body fluctuate during and after menopause, researchers are investigating the possibility of a connection.

Sjögren’s Syndrome — Diagnosis

Sjögren’s syndrome can be difficult to identify and, for that reason, often goes undiagnosed or initially misdiagnosed. Because the symptoms of Sjögren’s syndrome develop gradually and are somewhat nonspecific (similar to those of many other diseases), reaching the correct diagnosis is likely to take extra time. This delay happens so often, in fact, that the Sjögren’s Syndrome Foundation reports an average of six and a half years from the time symptoms first appear until the diagnosis is finally extablished.

Once inside the healthcare system, a Sjögren’s sufferer potentially could see a number of different medical specialists, any one of whom might diagnose the disease and/or be involved in its treatment. These medical professionals are likely to include: rheumatologist (a doctor who specializes in diseases of the joints, muscles and bones as well as diagnosing and managing autoimmune disorders), primary care physician, internist, ophthalmologist (eye specialist), otolaryngologist (ear, nose and throat specialist) and/or other specialists. In the long term, though, it is usually the rheumatologist who will coordinate treatment involving a number of contributing specialists.

The symptoms of Sjögren’s syndrome can be confusing since they are often similar to those seen in women during normal menopause. They can be mistaken, too, for symptoms resulting from certain drug side effects or allergies. Other autoimmune diseases, such as lupus and rheumatoid arthritis, also may cause a similar presentation. The diagnosis can be even more challenging because, with this condition, symptoms do not always occur all at the same time. Since Sjögren’s can involve more than one body system, physicians or dentists may fail to realize that a systemic disease is actually at the root of the various clusters of problems.

Sjögren’s Syndrome — What Happens at the Doctor’s Office?

Early diagnosis is important in order to limit the cumulative effect of Sjögren’s on the eyes, mouth and other organs over time. The first doctor’s office visit typically will include a medical history and discussion of symptoms along with a physical examination. The healthcare team will be looking for changes in the eyes, mouth and salivary glands as well as muscle weakness, swelling of lymph nodes in the neck and joint inflammation. The initial physician is also likely to recommend a specialized eye examination to be done by an ophthalmologist. In addition a dental exam, done by a qualified dental specialist, may be necessary.

By definition Sjögren’s syndrome diagnosis requires that the person exhibit symptoms for a prolonged time (e.g., dry mouth for longer than three months) supported by positive laboratory test results. There is no single medical test for Sjögren’s syndrome. Several tests, considered together, will help a doctor establish the diagnosis. Such evaluation procedures typically include the following measures:

  • Blood tests

A number of diagnostic blood tests are necessary to establish the diagnosis of Sjögren’s syndrome. Among the most important are tests for the presence of certain antibodies that are markers for autoimmune disorders. These evaluations include the anti-nuclear antibody (ANA: present in about 70 percent of Sjögren’s patients) and the Sjögren’s-associated SS-A (also called anti-Ro: 70 percent of Sjögren’s patients are positive) and SS-B (also called anti-La: 40 percent are positive) antibodies. Rheumatoid factor (RF: 60 to 70 percent of Sjögren’s patients test positive) may also be present. Other blood tests can reveal more signs of inflammation. Markers include increased levels of immunoglobulin or C-reactive proteins (CRP). Both of these are proteins that signal immune reactions. An erythrocyte sedimentation rate (ESR or sed rate) test may also be necessary to disclose more general signs of increased inflammation.

Many experts also suggest to have blood tested (anti-transglutaminase IgG and IgA levels) for a genetic wheat allergy. This test is important because wheat allergy is positive in 14.7 percent of those with Sjögren’s vs. only 1 percent of the general population.

  • Dry eye tests

Eye tests can determine whether tear production is normal. They will also reveal areas of damage to the eye as a result of dryness. An ophthalmologist or a rheumatologist may perform the following tests:

Schirmer test – The Schirmer test determines how well an eye produces tears. An ophthalmologist gently inserts a small piece of sterile filter paper between the eye and eyelid in the inner corner of the eye. After several minutes the doctor measures the amount of wetness on the paper. A decreased amount of wetting is characteristic of Sjögren’s syndrome; however, decreased tear production can also occur with other conditions.

Lissamine green test – The dry eye of Sjögren’s syndrome can result in damage to the membranes surrounding the eye and eyelids. A test called the Lissamine green test detects scratches on the surface of the eye. A slit-lamp test checks the surface of the eye (cornea) for dryness-related damage.

  • Salivary gland tests.

    A salivary gland biopsy requires removal of a small piece of tissue from the inner portion of the lip. Salivary gland flow rates may be further tested by several different methods. The most common of these evaluations is measurement of the volume of expectoration of saliva into a volumetric cup. Nuclear medicine methods that quantify the uptake and excretion of a specific substance (technetium) are more accurate but more expensive. New methods using ultrasound appear promising and may someday provide a noninvasive method to evaluate clinical status more accurately.

  • Dental Exam

    Examination by a qualified dentist can reveal clinical signs of dry mouth. Symptoms typically include a sticky oral lining, cavities in specific locations, thick saliva, ulcers or fissures.

  • Chest X-ray

    Because Sjögren’s syndrome can affect the lungs, a doctor may order this test to evaluate pulmonary inflammation or damage.