Sjögren's syndrome

Definition

Sjögren's syndrome is an autoimmune disorder in which the mouth and eyes become extremely dry. Sjögren's syndrome is often associated with other autoimmune disorders.

Description

Like other autoimmune disorders, Sjögren's syndrome occurs when the body's immune system mistakenly considers parts of the body as foreign invaders. People with this disease have abnormal proteins in their blood, suggesting that their immune system is reacting against their own tissue. While the immune cells should attack and kill invaders like bacteria, viruses, and fungi, these cells should not attack the body itself. In autoimmune disorders, however, cells called antibodies see tissues of the body as foreign, and help to start a chain of events that results in damage and destruction of those tissues.

There are three types of Sjögren's syndrome. Primary Sjögren's syndrome occurs by itself with no other associated disorders. Secondary Sjögren's syndrome occurs along with other autoimmune disorders, like systemic lupus erythematosus, rheumatoid arthritis , scleroderma, vasculitis, or polymyositis. When the disorder is limited to involvement of the eyes, with no other organ or tissue involvement evident, it is called sicca complex.

Women are about 10 times more likely to suffer from Sjögren's syndrome than are men. It affects all age groups, although most patients are diagnosed when they are between 45 and 55 years old. Sjögren's syndrome is commonly associated with other autoimmune disorders. In fact, 30% of patients with certain autoimmune disorders will also have Sjögren's syndrome.

Causes & symptoms

The cause of Sjögren's syndrome has not been clearly defined, but several causes are suspected. For instance, genetic factors play a role, in that the syndrome sometimes runs in families. In fact, autoimmune diseases in general tend to occur in families with certain genetic characteristics. In late 2001, researchers announced discovery of the genetic markers that predict increased risk of many autoimmune disorders like rheumatoid arthritis, multiple sclerosis, and lupus.

Other potential causes include hormonal factors (since there are more women than men with the disease) and viral factors. The viral theory suggests that the immune system is activated in response to a viral invader, but then fails to turn itself off. Some other immune malfunction then causes the overly active immune system to begin attacking the body's own tissues. Sjögren's syndrome is thought to be the end result of several factors including genetic, immunologic, hormonal, and possibly infectious.

The main problem in Sjögren's syndrome is dryness. The salivary glands and secretory glands (mucous/liquid) are often attacked and slowly destroyed, leaving the mouth extremely dry and sticky-feeling. Swallowing and talking become difficult. Normally, the saliva washes the teeth clean. Saliva cannot perform this function in Sjögren's syndrome, so the teeth develop many cavities and decay quickly. The parotid glands produce the majority of the mouth's saliva. These glands are located over the jaw bones, behind the area of the cheeks and in front of the ears, and may become significantly enlarged in Sjögren's syndrome.

The eyes also become extremely dry as the tear glands (called lacrimal glands) are slowly destroyed. Eye symptoms include itching , burning, redness, increased sensitivity to light, and thick secretions gathering at the eye corners closest to the nose. The cornea may have small irritated pits in its surface (ulcerations).

Destruction of secretary glands in other areas of the body may cause a variety of symptoms. In the nose, dryness may result in nosebleeds . In the rest of the respiratory tract, the rates of ear infection , hoarseness, bronchitis , and pneumonia may increase. Vaginal dryness can be quite uncomfortable. Rarely, the pancreas may slow production of enzymes critical for digestion. The kidney may malfunction. About 33% of all patients with Sjögren's syndrome have other symptoms unrelated to gland destruction. These symptoms include fatigue , decreased energy, fevers, muscle aches and pains, and joint pain .

Patients who also have other autoimmune diseases will suffer from the symptoms specific to those conditions. A rare but serious complication of Sjögren's syndrome is inflammation of the blood vessels (vasculitis), which can damage tissues supplied by these blood vessels.

Diagnosis

Diagnosis of Sjögren's syndrome is based on the patient having at least three consecutive months of bothersome eye and/or mouth dryness. A variety of tests can then be done to determine the quantity of tears produced, the quantity of saliva produced, and the presence or absence of antibodies that could be involved in the destruction of glands.

Treatment

There is no cure for Sjögren's syndrome. Instead, treatment usually attempts to reduce the discomfort and complications associated with dryness of the eyes and mouth (and other areas). Artificial tears are available, and may need to be used up to every 30 minutes. By using these types of products, the patient is more comfortable and avoids the complications associated with eyes that are overly dry. Dry mouth is treated by sipping fluids slowly but constantly throughout the day. Sugarless chewing gum can also be helpful. An artificial saliva is available for use as a mouthwash. Careful dental hygiene is important in order to avoid tooth decay, and it is wise for patients to decrease sugar intake.

Allopathic treatment

Vaginal dryness can be treated with certain gel preparations. Steroid or immunosuppressive medications may be required when other symptoms of autoimmune disorders complicate Sjögren's syndrome. However, these medications should be avoided when possible because they may thin the cornea and make it even more susceptible to injury.

Expected results

The prognosis for patients with primary Sjögren's syndrome is particularly good. Although the condition is quite annoying, serious complications rarely occur. The prognosis for patients with secondary Sjögren's syndrome varies, since it depends on the prognosis for the accompanying autoimmune disorder.

Prevention

Since the cause of Sjögren's syndrome is unknown, there are no known ways to prevent this syndrome.

Resources

BOOKS

Aaseng, Nathan. Autoimmune Diseases. New York: F. Watts, 1995.

Koopman, D. Arthritis and Allied Conditions. New York: Williams and Wilkins, 1997.

Moutsopoulos, Haralampos M. "Sjögren's Syndrome." In Harrison's Principles of Internal Medicine, edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1998.

Talal, N., et al. Sjögren's syndrome: Clinical and Immunological Aspects. Berlin: Springer, 1987.

PERIODICALS

Moran, M. "Autoimmune Diseases Could Share Common Genetic Etiology." American Medical News. 44, no. 38: (October 8, 2001):38.

Moutsopoulos, H. M., and P. G. Vlachoyiannopoulos. "What Would I Do If I Had Sjögren's syndrome?" Rheumatology Review 2 (1993): 17+.

Moutsopoulos, H. M., and P. Youinou. "New Developments in Sjögren's syndrome." Current Opinion in Rheumatology 3 (1991): 815+.

ORGANIZATIONS

National Institute of Arthritis & Skin Diseases. Building 31, Room 4C05, Bethesda, MD 20892-2350. (301) 496-8188. http://nih.gov/niams.

National Organization for Rare Disorders (NORD). 55 Kenosia Avenue, Danbury, CT 06813 (203) 744-0100 (toll-free # is the same).

National Sjögren's Syndrome Association. 5815 N. Black Canyon Highway, #103, Phoenix, AZ 85015-2200. (602) 443-9844.

Kim Sharp

Teresa Norris

Sjögren's Syndrome

Definition

Sjögren's syndrome (SS) is a disorder in which the mouth and eyes become extremely dry. Sjögren's syndrome is often associated with other autoimmune disorders. It is named for Henrik Sjögren, a Swedish ophthalmologist.

Description

Like other autoimmune disorders, Sjögren's syndrome occurs when the body's immune system mistakenly begins treating parts of the body as foreign invaders. While the immune cells should attack and kill invaders like bacteria, viruses, and fungi, these cells should not attack the body itself. In autoimmune disorders, however, cells called antibodies see tissues of the body as foreign, and help to start a chain of events that results in damage and destruction of those tissues.

There are three types of Sjögren's syndrome. Primary Sjögren's syndrome occurs by itself, with no other associated disorders. Secondary Sjögren's syndrome occurs along with other autoimmune disorders, like systemic lupus erythematosus, rheumatoid arthritis, scleroderma, vasculitis, or polymyositis. When the disorder is limited to involvement of the eyes, with no other organ or tissue involvement evident, it is called sicca complex.

Women are about nine times more likely to suffer from Sjögren's syndrome than are men. SS affects all age groups, although most patients are diagnosed when they are between 40 and 55 years old. Sjögren's syndrome is commonly associated with other autoimmune disorders. In fact, 30% of patients with certain autoimmune disorders will also have Sjögren's syndrome.

SS is found in all races and ethnic groups. It is thought to affect between 0.1% and 3% of the population in the United States; this range reflects the lack of a uniform set of diagnostic criteria. According to the American College of Rheumatology, between 1 million and 4 million Americans have Sjögren's syndrome.

Causes and symptoms

The cause of Sjögren's syndrome has not been clearly defined, but several causes are suspected. The syndrome sometimes runs in families. Other potential causes include hormonal factors (since there are more women than men with the disease) and viral factors. The viral theory suggests that the immune system is activated in response to a viral invader, but then fails to turn itself off. Some other immune malfunction then causes the overly active immune system to begin attacking the body's own tissues. In 2004 a group of Greek researchers presented evidence that a coxsackievirus may be the disease organism that triggers SS.

The main problem in Sjögren's syndrome is dryness. The salivary glands are often attacked and slowly destroyed, leaving the mouth extremely dry and sticky. Swallowing and talking become difficult. Normally, the saliva washes the teeth clean. Saliva cannot perform this function in Sjögren's syndrome, so the teeth develop many cavities and decay quickly. The parotid glands produce the majority of the mouth's saliva. They are located lying over the jaw bones behind the area of the cheeks and in front of the ears, and may become significantly enlarged in Sjögren's syndrome.

The eyes also become extremely dry as the tear glands (called glands of lacrimation) are slowly destroyed. Eye symptoms include itching, burning, redness, increased sensitivity to light, and thick secretions gathering at the eye corners closest to the nose. The cornea may have small irritated pits in its surface (ulcerations).

Destruction of glands in other areas of the body may cause a variety of symptoms. In the nose, dryness may result in nosebleeds. In the rest of the respiratory tract, the rates of ear infection, hoarseness, bronchitis, and pneumonia may increase. Vaginal dryness can be quite uncomfortable. Rarely, the pancreas may slow production of enzymes important for digestion. The kidney may malfunction. About 33% of all patients with Sjögren's syndrome have other symptoms unrelated to gland destruction. These symptoms include fatigue, decreased energy, fevers, muscle aches and pains, and joint pain.

Many patients with SS also develop a variety of skin problems that include dry patches, vasculitis, and cutaneous B-cell lymphoma. These and other dermatologic disorders are more common in SS than was previously thought.

Patients who also have other autoimmune diseases will suffer from the symptoms specific to those conditions.

In addition to physical symptoms, patients with SS appear to be at increased risk for depression and other mood disorders.

Diagnosis

Diagnosis of Sjögren's syndrome is based on the patient having at least three consecutive months of bothersome eye and/or mouth dryness. A variety of tests can then be done to determine the quantity of tears produced, the quantity of saliva produced, and the presence or absence of antibodies that could be involved in the destruction of glands.

Treatment

There is no cure for Sjögren's syndrome. Instead, treatment usually attempts to reduce the discomfort and complications associated with dryness of the eyes and mouth (and other areas). Artificial tears are available, and may need to be used up to every 30 minutes. By using these types of products, the patient is more comfortable and avoids the complications associated with eyes that are overly dry. Dry mouth is treated by sipping fluids slowly but constantly throughout the day. Sugarless chewing gum can also be helpful. An artificial saliva is available for use as a mouthwash. Patients may also be given such drugs as pilocarpine (Salagen) or cevimeline (Evoxac) to increase saliva and tear secretions. Careful dental hygiene is important in order to avoid tooth decay, and it is wise for patients to decrease sugar intake. Vaginal dryness can be treated with certain gel preparations. Steroid medications may be required when other symptoms of autoimmune disorders complicate Sjögren's syndrome. However, these medications should be avoided when possible because they may make the cornea thin and even more susceptible to injury.

KEY TERMS

Autoimmune disorder— A disorder in which the body's immune cells mistake the body's own tissues as foreign invaders; the immune cells then work to destroy tissues in the body.

Cornea— A transparent structure of the eye over the iris and pupil; light must pass through the cornea to make vision possible.

Coxsackievirus— Any of a group of enteroviruses that produce a disease in humans characterized by fever and rash. Coxsackieviruses are named for the town in upstate New York where they were first identified.

Immune system— The complex network of organs and blood cells that protect the body from foreign invaders, like bacteria, viruses, and fungi.

Prognosis

The prognosis for patients with primary Sjögren's syndrome is particularly good; these patients have a normal life expectancy. Although the condition is quite annoying, serious complications rarely occur. The prognosis for patients with secondary Sjögren's syndrome varies since it depends on the prognosis for the accompanying autoimmune disorder.

Prevention

Since the cause of Sjögren's syndrome is unknown as of 2004, there are no known ways to prevent this syndrome.

Resources

BOOKS

Beers, Mark H., MD, and Robert Berkow, MD., editors. "Diffuse Connective Tissue Disease." Section 5, Chapter 50 In The Merck Manual of Diagnosis and Therapy. Whitehouse Station, NJ: Merck Research Laboratories, 2004.

Moutsopoulos, Haralampos M. "Sjögren's Syndrome." In Harrison's Principles of Internal Medicine, edited by Anthony S. Fauci, et al. New York: McGraw-Hill, 1997.

PERIODICALS

Bell, Mary, et al. "Sjögren's Syndrome: A Critical Review of Clinical Management." The Journal of Rheumatology 26, no. 9 (2001): 2051-2059.

Francis, Mark L., MD. "Sjogren Syndrome." eMedicine July 1, 2004. 〈http://emedicine.com/med/topic2136.htm〉.

Ono, M., E. Takamura, K. Shinozaki, et al. "Therapeutic Effect of Cevimeline on Dry Eye in Patients with Sjögren's Syndrome: A Randomized, Double-Blind Clinical Study." American Journal of Ophthalmology 138 (July 2004): 6-17.

Roguedas, A. M., L. Misery, B. Sassolas, et al. "Cutaneous Manifestations of Primary Sjögren's Syndrome Are Underestimated." Clinical and Experimental Rheumatology 22 (September-October 2004): 632-636.

Stevenson, H. A., M. E. Jones, J. L. Rostron, et al. "UK Patients with Primary Sjögren's Syndrome Are at Increased Risk from Clinical Depression." Gerodontology 21 (September 2004): 141-145.

Triantafyllopoulou, A., N. Tapinos, and H. M. Moutsopoulos. "Evidence for Coxsackievirus Infection in Primary Sjögren's Syndrome." Arthritis and Rheumatism 50 (September 2004): 2897-2902.

ORGANIZATIONS

American College of Rheumatology. 1800 Century Place, Suite 250, Atlanta, GA 30345-4300. (404) 633-3777. Fax: (404) 633-1870. 〈http://www.rheumatology.org〉.

Sjögren's Syndrome Foundation, Inc. 8120 Woodmont Avenue, Bethesda, MD 20814. (800) 475-6473. Fax: (301) 718-0322. 〈http://www.sjogrens.org〉.

OTHER

American College of Rheumatology Fact Sheet. "Sjögren's Syndrome." 〈http://www.rheumatology.org/public/factsheets/sjogrens_new.asp?aud=pat〉.

Sjögren's syndrome

Definition

Sjögren's syndrome is an autoimmune disorder in which the body's immune system inappropriately attacks the glands that are responsible for the production of tears and saliva, leading to decreased secretion. This attack can eventually spread to other organs and tissues. It was first described in 1933 the Swedish ophthalmologist, Henrick Sjögren, who observed a group of women with both dry eyes and mouth, most of whom also had arthritis .

Description

The primary symptoms of this disease are dry eyes (xerophthalmia) and dry mouth (xerostomia). Sjörgren's syndrome is considered to be a systemic rheumatic disease, and may progress to cause inflammation in other areas of the body such as the joints, skin, nervous system (nerves), and kidneys, among others. It is often associated with other diseases such as rheumatoid arthritis or lupus , which are diseases of the connective tissues of the body; groups of cells that support organs and connect parts of the body together.

Demographics

Sjögren's syndrome is one of the most common autoimmune disorders, affecting about four million people in America. The majority of cases are diagnosed in the late 40's, and approximately 90% of these are women. Most of these patients are caucasian women, though this is in no means exclusive, as it can be found in all ethnicities, both sexes, and a wide variety of age groups.

Causes and symptoms

In Sjögren's syndrome, the lymphocytes (white blood cells of the body's immune system) travel to the glands that are responsible for the production of tears (lacrimal glands) and saliva (salivary glands that produce “spit”) and begin to attack them in an abnormal “autoimmune response.” The reason why this occurs is still a subject of debate and investigation; however it has been suggested that it may be a combination of genetics (inherited tendency), a result of certain viral infections, other dysfunctions of the immune system and nervous system, as well as hormonal influences.

There are two basic types of Sjögren's syndrome: primary and secondary. Half of the cases are primary Sjörgren's, where this is the only autoimmune disease present in the body. The other half of cases are “secondary” Sjörgren's, which occurs in combination with other autoimmune diseases such as systemic lupus erthematatosus, rheumatoid arthritis, polymotositis/dermatomyositis, and systemic sclerosis (scleroderma ). Sjörgren's may occur in other areas of the body as well, such as in the nerves, lung, and intestines.

The symptoms of this disease may vary greatly, depending upon where the attack occurs, and they may be mild, remain at a certain level (plateau), or progress and become debilitating. These symptoms may include:

• dry mouth
• dental decay (cavities) due to changes in the composition of saliva
• problems with dentures due to changes in tissues in the mouth
• enlarged glands (salivary glands on the side of the jaw)
• trouble swallowing and chewing
• inability to taste properly
• problems speaking
• infections of the mouth (yeast)
• dry eyes (may feel like grit or sand due to reduced lacrimal secretion)
• eye infections, “red eye”, ulcers on cornea
• dry skin
• Raynaud's phenomenon (restriction of blood vessels in fingers and toes in response to cold or stress)
• joint pain
• gastrointestinal problems such as nausea and pain
• nervous system effects
• problems with the lungs (dry, unproductive cough, infections such as pneumonia )
• liver problems (revealed by abnormal results on liver panel tests)
• vaginal dryness (women) with accompanying infections (yeast and/or bacterial)
• fatigue
• lymphoma

Diagnosis

Diagnosis of Sjögren's is difficult, and it is particularly challenging in the elderly, as they frequently have other conditions with similar presentations that might occur, such as chronic fatigue syndrome and menopause, among many others. Due to the variability of symptoms over time, it is often misdiagnosed as another condition or may not be diagnosed at all. On average, it takes approximately six years to achieve an accurate diagnosis.

There has been much debate as to the classification of the different types of this disease, but in 2002, the American-European Consensus Group proposed criteria that is now widely accepted, based upon the following guidelines.

• Positive dry eye tests for the disease (Shirmer's test for tear production and Lissamine Green and Rose Bengal for dryness, slit-lamp tests)
• Dry mouth symptoms
• Specific pathology findings that indicate the presence of the disease
• Affliction of the salivary glands (measurements may be taken to asses salivary function through sialogram and scintagraphy, and the flow of saliva assessed from parotid gland, as well as biopsies)
• Presence of autoantibodies in the blood (Anti-Ro/SSA and/or Anti-La /SSB, though Anti-Ro antibodies have been found in normal elderly patients)

There may also be additional tests performed as well. The blood may be tested for the presence of immunoglobulins (IgG), anti-nuclear antibody (ANA), rheumatoid factor (RF), and ESR (erythrocyte sedimentation rate test for inflammation), though these are found in other conditions besides Sjögren's syndrome. The urine may also be tested to assess kidney function.

The diagnosis may be further divided into primary and secondary Sjörgren's, based upon pathological findings and patient history. As many diseases and medication side-effects are similar to the symptoms of Sjögren's syndrome, it is particularly important that elderly patients bring a complete medical history and medication list to a consultation with their physician. Additionally, some nervous system symptoms may be similar to conditions frequently found in the elderly, such as Alzheimer's disease .

In general, patients diagnosed with the disease should be under the care of a team of health care professionals including an eye doctor (ophthalmologist), dentist, and rheumatologist (specializing in diseases such as arthritis).

Treatment

As of 2008, there is no cure for Sjögren's syndrome, nor is there any real treatment to stop the damaging effects. Research is underway to explore treatment possibilities.

Actions can be taken, however, to alleviate the symptoms of this disease. Patients may be encouraged to use artificial tears for dry eyes, though some have problems with the preservatives contained in some brands with long-term use. To alleviate the symptoms of dry mouth, they may be instructed to use specific mouthwashes, chew gum to promote salivation, sip water, or use salvia substitutes. Proper dental care is recommended to counteract the tendency for dental effects, with regular visits to a dental professional. Wearing of dentures can be problematic for the elderly who have Sjögren's syndrome, as yeast may accumulate on denture material and oral tissues may not support dentures adequately. Thus a dentist should be consulted regarding denture use.

QUESTIONS TO ASK YOUR DOCTOR

• What tests may be needed to diagnosis Sjogren's syndrome, and is any special preparation needed for these tests?
• What type of Sjogren's is suspected?
• What is the extent of the disease and the prognosis?
• What practical steps can be taken to alleviate the symptoms?
• What type of medical and dental monitoring is needed?
• What symptoms should be reported to health care professionals?

The patient may also be instructed to take certain medications to assist in alleviating the symptoms of the disease, such as corticosteroids, non-steroidal anti-inflammatory drugs , Evoxac (for dry mouth), and immunosuppressants, among others. Also, a surgical procedure may be recommended for relief of dry eyes.

Nutrition/Dietetic concerns

There is considerable debate as to the role of diet in autoimmune disease. Some patients have reported improvement by restriction of certain food items, and improvement by inclusion of others. In general, a healthy, well-rounded diet that encompasses good nutrition is helpful in disease states. A nutritionist should be consulted for further information.

Therapy

Different types of therapy may be helpful to assist in the alleviation of symptoms, depending upon the extent of disease. A physician should be consulted for recommendations.

Prognosis

The earlier a patient is diagnosed, the better his/her chances of alleviating symptoms and avoiding complications. The symptoms may remain mild, worsen and plateau, or become debilitating. As there is a higher risk of developing lymphoma associated with this disease, as well as frequent co-existence with other autoimmune conditions, a patient should be under a physicians care for regular monitoring.

KEY TERMS

Anti-nuclear antibody (ANA) —A test for autoimmune disease, among which Anti-Ro/SSA and/or Anti-La /SSB are specific types.

Autoimmune disease —A type of disease in which a person's immune system inappropriately attacks the body's own cells and tissues.

ESR (erythrocyte sedimentation rate) —A test for inflammation where the rate at which erythrocytes (red blood cells) settle to the bottom of a tube, which often increases during inflammation.

Immunoglobulins (IgG) —A type of protein (antibody)that helps to fight infection, particularly bacterial infections

Lymphocytes —Blood cells of the body's immune system that fight infection.

RF Test —Test for rheumatoid factor, which can be elevated in conditions such as rheumatoid arthritis and Sjorgren's syndrome.

Xerophthalmia —Dry eyes.

Xerostomia —Dry mouth. Dry eyes.

Salivary glands —The glands in the mouth that produce saliva, the parotid, sublingual, and submandibular glands.

Prevention

It is very important to obtain a diagnosis early in the course of the disease, so measures can be taken to alleviate the symptoms and begin monitoring the patient for more serious complications such as lymphoma. Swelling of glands in the facial area, underneath the arms (armpits) or groin area, which may or may not indicate lymphoma, should be brought to a physician's attention.

Caregiver concerns

Caregivers should be aware of the need for the appropriate monitoring of the patient by health-care professionals for the management of disease symptoms. In the case of elderly patients, special care should be given to the use of dentures, proper dental care, infections, effects on eyes, and monitoring for development of lymphoma. Elderly individuals may need special assistance when dealing with the complications of this disease, and if in assisted living, the health care provider staff should be notified of their needs.

Resources

books

Theofilopoulos, A., and C. Bona, ed. The Molecular Pathology of Autoimmune Diseases (2nd Edition). New York, Taylor & Francis, 2002.

Sjögren's Syndrome Foundation. What is Sjögren's syndrome? Bethesda,2007 http://www.sjogrens.org/images/SSF%20patient%20brochure.pdf

periodicals

Ng, K.P., and D.A. Isenberg. Drug Aging 2008, Vol. 25, No. 1 pp.19–33

Vitali, et al. Ann Rheum Dis. 2002, Jun; (61)6, pp.554–8

Mathews, S.A., et. al. J. Dent Res 2008,87(4) pp.308–318

organizations

Sjögren's Syndrome Foundation, 6707 Democracy Boulevard, Suite 325, Bethesda, MD, 20817, 301-530-4420, 800-475-6473, 301-530-4415, [email protected], http://www.sjogrens.org/.

Jill Granger M.S.

Sjögren's syndrome

Description

Sjögren's syndrome is an autoimmune disease, which means that the immune system has mounted an attack against specific tissues of the body. For example, most patients with Sjögren's syndrome carry antibodies to molecules found in the nucleus of cells (antinuclear antibodies). Although Sjögren's syndrome can affect practically any organ in the body, it is characterized by dry mouth (xerostomia ) and dry eyes (xerophthalmia). These hallmark symptoms are known as "sicca symptoms." Sjögren's syndrome goes by many names which include Sjögren's disease, dry-mouth and dry-eyes disease, sicca complex, and sicca syndrome.

Symptoms of Sjögren's syndrome include dry mouth, difficulty or inability to swallow (dysphagia), tooth decay (dental caries), impaired taste and smell, dry eyes, eye pain, eye redness, muscle pain (myalgia), and fatigue . Other, less common, symptoms include diarrhea , headaches, joint pain (arthralgia), muscle weakness, and dry cough. Patients with cancer of lymphoid tissue (lymphoma) and Sjögren's syndrome have fever , nerve involvement, low numbers of red blood cells (anemia ) and white blood cells (lymphopenia), inflammation of blood vessels of the skin (skin vasculitis), and disease of the lymph nodes (lymphadenopathy) much more frequently than patients with Sjögren's syndrome alone.

The symptoms of Sjögren's syndrome can have a pronounced effect on quality of life. Besides causing discomfort, the symptoms also disrupt sleep, which can have side effects such as fatigue, difficulty concentrating, and depression . Patients with Sjögren's syndrome are at risk for tooth decay and yeast infections in the mouth (erythematous candidiasis). Approximately 5% of the patients with Sjögren's syndrome develop malignant lymphoma.

Causes

The cause of Sjögren's syndrome is unknown, although several viruses are suspected triggers of the autoimmune reaction. The sicca symptoms of Sjögren's syndrome are caused by the invasion and multiplication of white blood cells (lymphocytes) into the salivary glands and tear glands. The lymphocytes destroy the gland tissue and cause the glands to malfunction, reducing the production of tears and saliva. This invasion by lymphocytes, however, does not fully account for the sicca symptoms. Other, as yet unidentified, factors play a role in the development of the sicca symptoms.

Sjögren's syndrome can occur in combination with certain cancers. For more than half of the patients with non-Hodgkin lymphoma, the lymphoma is located in the salivary glands, causing them to malfunction. Graft-vs.-host disease in patients who have undergone bone marrow transplantation can cause eye problems similar to those seen in Sjögren's syndrome. Both chemotherapy and radiation therapy to the head and neck can cause xerostomia.

Treatments

There is no cure for Sjögren's syndrome. Therefore, treatment is aimed at relieving symptoms. Dry eyes may be treated with eye drops and avoidance of drying conditions such as wind, hair dryers, and medications that cause dry eyes (e.g. tricyclic antidepressants). Eyeglasses may protect the eyes from wind. The lower tear ducts may be blocked with silicone plugs (punctal occlusion) to conserve natural tears. Use of humidifiers, both at home and at work, can significantly reduce sicca symptoms. Saliva substitutes and sugar-free hard candies or chewing gum, which stimulate salivation, can reduce sicca symptoms. The drugs pilocarpine and cevimeline can increase salivation. Pain may be relieved by nonsteroidal anti-inflammatory drugs (e.g. Aleve) or other pain medications.

The patient with Sjögren's syndrome should faithfully conduct routine daily oral hygiene consisting of tooth brushing two to three times, flossing once, and utilizing medicated rinses as prescribed by the physician. Fluoride varnishes applied by a dentist and nightly fluo-ride treatments can help to prevent dental caries. Brushing and flossing should be performed carefully to prevent damage to the weakened oral mucosa.

Alternative and complementary therapies

In a controlled clinical study, the herbal vitamin supplement Longo Vital was shown to increase the rate of salivation. Sicca symptoms may be reduced by acupuncture. Papayas contain papain, which is an enzyme that breaks up proteins. Eating papayas, drinking papaya juice, or drinking a solution of crushed papain tablets in water can liquefy thick saliva. Drinking a solution of meat tenderizer (which contains papain) in water is another alternative.

Resources

BOOKS

Cush, John, MD, and Arthur F. Kavanaugh, MD, et al. Rheumatology Diagnosis and Therapeutics. Philadelphia: Lippincott Williams & Wilkins, 1998.

Iwamoto, Ryan R. "Xerostomia." In Cancer Symptom Manage ment, 2nd ed. Yarbro, Connie H., Margaret H. Frogge, and Michelle Goodman, eds. Sudbury, MA: Jones and Bartlett Publishers, 1999.

PERIODICALS

Bell, Mary, et al. "Sjögren's Syndrome: A Critical Review of Clinical Management." The Journal of Rheumatology 26, no. 9 (2001): 2051-9.

Daniels, Troy E. "Evaluation, Differential Diagnosis, and Treatment of Xerostomia." Current Opinion in Rheuma tology 27 (2001): 6-9.

Fox, Robert I., and Paul Michelson. "Approaches to the Treat ment of Sjögren's Syndrome." Current Opinion in Rheumatology 27 (2000): 15-20.

Fox, Robert I. "Update in Sjögren Syndrome." Current Opin ion in Rheumatology 12 (2000): 391-8.

OTHER

MGH Virtual Brain Tumor Center. 22 June 2001 <http://brain.mgh.harvard.edu>.

Belinda Rowland, Ph.D.

KEY TERMS

Autoimmune disease

—A disease caused by the abnormal presence of antibodies against normal tissues of the body.

Lymphocytes

—White blood cells. Lymphocytes play a vital role in the immune system.

Lymphoma

—Any cancer of the tissues that make up the lymphatic system.

Sicca symptoms

—Dry mouth and eyes.

Sjogren-Larsson syndrome

Definition

Sjogren-Larsson syndrome is an inherited condition resulting in thickened, dry, rough skin (ichthyosis), mental retardation , and stiff, rigid muscles (spasticity ). Although not all the manifestations of the disease may be immediately evident at birth, the disease is not considered to be progressive.

Description

Originally identified in Swedish patients, Sjogren-Larsson is a rare genetic disorder. The condition is more common in places where intermarriage within families is traditional, such as among the Haliwa Native Americans of Halifax and Warren counties in North Carolina, and in Vasterbotten and Norrbotten Counties in Sweden.

Demographics

The frequency of Sjogren-Larsson syndrome in the United States is unknown. In Sweden, 0.4 of every 100,000 babies is born with the condition. There is no increased association with a particular race or sex.

Causes and symptoms

Sjogren-Larsson syndrome is inherited in an autosomal recessive fashion, meaning that an affected child has received a faulty gene from both the mother and the father. The disorder has been traced to a variety of defects on chromosome 17, resulting in a defective or deficient enzyme called fatty aldehyde dehydrogenase and an inability to appropriately metabolize compounds called fatty alcohols. Fatty alcohols and fatty aldehydes accumulate and cause water loss from the skin, leading to the severely dry, thickened skin characteristic of the disease.

Most babies with Sjogren-Larsson syndrome are born prematurely. They often have noticeably reddened skin at birth (erythema), with fine scales evident. Over the course of the first year, the skin becomes increasingly dry, rough, scaly, and thickened. The skin is often itchy. Neurological signs become obvious when the child is late or completely misses reaching various developmental milestones (sitting, crawling, pulling to a stand, vocalizing). The muscles are stiff and rigid, prohibiting normal motor development. Some children are able to walk with braces, but others must rely on a wheelchair throughout life. Mild to moderate mental retardation also becomes evident over time. Language is usually quite delayed. About 40% of children with Sjogren-Larsson syndrome suffer from seizures . Other characteristics of people with Sjogren-Larsson syndrome include short stature, poor eyesight, sensitivity to light resulting in squinting, defective tooth enamel, coarse and brittle hair, curved spine (hunchback), and unusually widely-spaced eyes.

Diagnosis

Sjogren-Larsson syndrome can be diagnosed by demonstrating greatly decreased activity of the deficient enzyme, or by identifying one of the genetic defects known to cause Sjogren-Larsson syndrome. MRI of the brain will reveal problems with myelin, the whitish material that normally forms a sheath around nerves, allowing for quick conduction of nerve messages. Skin biopsies will reveal a variety of abnormalities characteristic of Sjogren-Larsson syndrome. An EEG (electroencephalogram) will reveal disordered electrical patterns throughout the brain.

Treatment team

A child with Sjogren-Larsson syndrome will usually require diagnostic and treatment help from a team of professionals, including a neurologist , orthopedic surgeon, dermatologist, and ophthalmologist. Most children with Sjogren-Larsson syndrome need to be placed in a special educational setting.

Treatment

There are no treatments that can cure Sjogren-Larsson syndrome. A number of lotion or cream preparations (including mineral oil, urea, and vitamin D-3) may help improve itching and flaking, decrease the speed of skin turnover, and soften the skin. Sauna treatments and frequent showering and bathing may improve moisture levels in the skin.

Spasticity is sometimes improved through various surgical procedures. Braces may help increase mobility.

Recovery and rehabilitation

Most children with Sjogren-Larsson syndrome will benefit from services by a physical therapist (to help improve mobility), occupational therapist (to help improve ability to attend to activities of daily living), and speech and language therapist (to help develop both receptive and expressive language).

Prognosis

People with Sjogren-Larsson syndrome will not be able to live independently. They will require care throughout their lives. They may live to an adult age. The disease is not progressive, so the level of disability identified will remain constant.

Special concerns

In families who have an increased risk of Sjogren-Larsson disease, prenatal diagnosis can be accomplished through amniocentesis, chorionic villi sampling, or fetal skin biopsy .

Resources

BOOKS

"Disorders of Keratinization." In Nelson Textbook of Pediatrics, edited by Richard E. Behrman, et al. Philadelphia: W. B. Saunders Company, 2004.

PERIODICALS

Haddad, F. S., M. Lacour, J. I. Harper, and J. A. Fixsen. "The orthopaedic presentation and management of Sjogren-Larsson syndrome." J Pediatr Orthop 19, no. 5 (September-October 1999): 617-19.

Lacour, M. "Update on Sjogren-Larsson syndrome." Dermatology 193, no. 2 (1996): 77-82

ORGANIZATIONS

Foundation for Ichthyosis & Related Skin Types, Inc. (F.I.R.S.T.). 650 N. Cannon Avenue, Suite 17, Lansdale, PA 19446. 215-631-1411; Fax: 215-631-1413. [email protected]. <http://www.scalyskin.org/>.

Rosalyn Carson-DeWitt, MD