OVERLAPPING SYNDROMES

The following are just four auto-immune diseases that overlap with SLE. Not every sufferer will have all of the symptoms at any one time, and these diseases can occur without any overlap. Please email for more detailed information on any auto-immune related disease.

DISCOID LUPUS ERYTHEMATOSUS

Definition

Discoid lupus erythematosus (DLE) is a disease in which coin-shaped (discoid) red bumps appear on the skin. Discoid lupus is a benign, distinctive disc-shaped skin eruption. It affects only the skin and not internal organs. Discoid lupus is neither cancerous nor contagious. The initial lesion is a small or moderate-sized, coin-shaped red patch that arises spontaneously or after mild injury or exposure to sunlight. The disease spreads to other areas, but it may be confined to the exposed areas of the body, such as the face, scalp, ears, chest, and arms. The inflammation occurring on the skin may cause destruction of hair follicles and glands and thinning of the skin, with loss of normal colour. These lesions may cause permanent scarring and loss of hair.

The cause of the disease is an auto-immunity. Researchers believe that changes in the skin may be caused by an autoimmune reaction of the immune system, skin injury, or an inherited factor. However, there is no clearly defined predisposition to the disease.

Description

The disease called discoid lupus erythematosus only affects the skin, although similar discoid skin lesions can occur in the serious disease called systemic lupus erythematosus (SLE). Only about 10% of all patients with DLE will go on to develop the multi-organ disease SLE.

The tendency to develop DLE seems to run in families. Although men or women of any age can develop DLE, it occurs in women more frequently than in men.

Causes and symptoms

The cause of DLE is unknown. It is thought that DLE (like SLE) may be an autoimmune disorder. Autoimmune disorders are those that occur when cells of the immune system are misdirected against the body. Normally, immune cells work to recognize and help destroy foreign invaders like bacteria, viruses, and fungi. In autoimmune disorders, these cells mistakenly recognize various tissues of the body as foreign invaders, and attack and destroy these tissues. In SLE, the misdirected immune cells are antibodies. In DLE, the damaging cells are believed to be a type of white blood cell called a T lymphocyte. The injury to the skin results in inflammation and the characteristic discoid lesions.

In DLE, the characteristic skin lesion is circular and raised. The reddish rash is about 5-10 mm in diameter, with the center often somewhat scaly and lighter in color than the darker outer ring. The surface of these lesions is sometimes described as “warty.” There is rarely any itching or pain associated with discoid lesions. They tend to appear on the face, ears, neck, scalp, chest, back, and arms. As DLE lesions heal, they leave thickened, scarred areas of skin. When the scalp is severely affected, there may be associated hair loss (alopecia). People with DLE tend to be quite sensitive to the sun. They are more likely to get a sunburn, and the sun is likely to worsen their discoid lesions.

Diagnosis

Diagnosis of DLE usually requires a skin biopsy. A small sample of a discoid lesion is removed, specially prepared, and examined under a microscope. Usually, the lesion has certain microscopic characteristics that allow it to be identified as a DLE lesion. Blood tests will not reveal the type of antibodies present in SLE, and physical examination usually does not reveal anything other than the skin lesions. If antibodies exist in the blood, or if other symptoms or physical signs are found, it is possible that the discoid lesions are a sign of SLE rather than DLE.

Treatment

Treatment of DLE primarily involves the use of a variety of skin creams. Sunscreens are used for protection. Steroid creams can be applied to decrease inflammation. Occasionally, small amounts of a steroid preparation will be injected with a needle into a specific lesion. Because of their long list of side effects, steroid preparations taken by mouth are avoided. Sometimes, short-term treatment with oral steroids will be used for particularly severe DLE outbreaks. Medications used to treat the infectious disease malaria are often used to treat DLE.

Alternative treatment

Alternative treatments for DLE include eating a healthy diet, low in red meat and dairy products and high in fish containing omega-3 fatty acids. These types of fish include mackerel, sardines, and salmon – deep sea fish. Following a healthy diet is thought to decrease inflammation. Dietary supplements believed to be helpful include vitamins B, C, E, and selenium. Vitamin A is also recommended to improve DLE lesions. Constitutional homeopathic treatment can help heal DLE as well as help prevent it developing into SLE.

Prognosis

For the most part, the prognosis for people with DLE is excellent. While the lesions may be cosmetically unsightly, they are not life threatening and usually do not cause a patient to change his or her lifestyle. Only about 10% of patients with DLE will go on to develop SLE.

Prevention

DLE cannot be prevented. Recommendations to prevent flares of DLE in patients with the disease include avoiding exposure to sun and consistently using sunscreen.

CHILDHOOD DISCOID LUPUS

Signs and Symptoms

Plaques (red, raised skin lesions) with the following characteristics: Plaques are 1cm to 4cm in diameter and have clearly defined borders. They may appear anywhere on the child’s face, but the cheeks and jawline are the most common sites. Some people describe them as ”butterfly” lesions when two lesions of unequal size appear on both sides of the nose.

Lesions sometimes appear on the child’s scalp with localized patches of hair loss. Lesions scar as they heal.

Home Care

Instructions for your child: Don’t go outdoors between 10 a.m. and 2 p.m., when the sun’s ultraviolet light is strongest. If you can’t avoid exposure to bright sunlight, wear protective clothing and maximum-protection sun-screen products. Avoid fluorescent lighting, if possible. See your doctor for regular checkups, even when in remission.

OK for School, Preschool, or Nursery?

When appetite returns and alertness, strength, and feeling of well-being will allow.

Call Your Doctor If…

1) your child has symptoms of discoid lupus erythematosus.

2) the following occurs during treatment: -lesions on the child’s hands -swelling, redness, pain in joints.

RAYNAUD’S PHENOMENON

What Is Raynaud’s Phenomenon?

Raynaud’s phenomenon is a disorder that affects the blood vessels in the fingers, toes, ears, and nose. This disorder is characterized by episodic attacks, called vasospastic attacks, that cause the blood vessels in the digits (fingers and toes) to constrict (narrow). Although estimates vary, recent surveys show that Raynaud’s phenomenon may affect 5 to 10 percent of the general population in the United States. Women are more likely than men to have the disorder. Raynaud’s phenomenon appears to be more common in people who live in colder climates. However, people with the disorder who live in milder climates may have more attacks during periods of colder weather.

What Happens During an Attack?

For most people, an attack is usually triggered by exposure to cold or emotional stress. In general, attacks affect the fingers or toes but may affect the nose, lips, or ear lobes.

Reduced Blood Supply to the Extremities

When a person is exposed to cold, the body’s normal response is to slow the loss of heat and preserve its core temperature. To maintain this temperature, the blood vessels that control blood flow to the skin surface move blood from arteries near the surface to veins deeper in the body. For people who have Raynaud’s phenomenon, this normal body response is intensified by the sudden spasmodic contractions of the small blood vessels (arterioles) that supply blood to the fingers and toes. The arteries of the fingers and toes may also collapse. As a result, the blood supply to the extremities is greatly decreased, causing a reaction that includes skin discoloration and other changes.

Changes in Skin Color and Sensation

Once the attack begins, a person may experience three phases of skin color changes (white, blue, and red) in the fingers or toes. The order of the changes of color is not the same for all people, and not everyone has all three colors. Pallor (whiteness) may occur in response to spasm of the arterioles and the resulting collapse of the digital arteries. Cyanosis (blueness) may appear because the fingers or toes are not getting enough oxygen-rich blood. The fingers or toes may also feel cold and numb. Finally, as the arterioles dilate (relax) and blood returns to the digits, rubor (redness) may occur. As the attack ends, throbbing and tingling may occur in the fingers and toes. An attack can last from less than a minute to several hours.

How Is Raynaud’s Phenomenon Classified?

Doctors classify Raynaud’s phenomenon as either the primary or the secondary form. In medical literature, “primary Raynaud’s phenomenon” may also be called Raynaud’s disease, idiopathic Raynaud’s phenomenon, or primary Raynaud’s syndrome. The terms idiopathic and primary both mean that the cause is unknown.

Primary Raynaud’s Phenomenon

Most people who have Raynaud’s phenomenon have the primary form (the milder version). A person who has primary Raynaud’s phenomenon has no underlying disease or associated medical problems. More women than men are affected, and approximately 75 percent of all cases are diagnosed in women who are between 15 and 40 years old.

People who have only vasospastic attacks for several years, without involvement of other body systems or organs, rarely have or will develop a secondary disease (that is, a connective tissue disorder such as scleroderma) later. Several researchers who studied people who appeared to have primary Raynaud’s phenomenon over long periods of time found that less than 9 percent of these people developed a secondary disease.

Secondary Raynaud’s Phenomenon

Although secondary Raynaud’s phenomenon is much less common than the primary form, it is often a more complex and serious disorder. Secondary means that patients have an underlying disease or condition that causes Raynaud’s phenomenon. Connective tissue diseases are the most common cause of secondary Raynaud’s phenomenon. Some of these diseases reduce blood flow to the digits by causing blood vessel walls to thicken and the vessels to constrict too easily. Raynaud’s phenomenon is seen in approximately 85 to 95 percent of patients with scleroderma and mixed connective tissue disease, and it is present in about one-third of patients with systemic lupus erythematosus. For most people with lupus, Raynaud’s phenomenon acts like the primary form of the disorder. Raynaud’s phenomenon also can occur in patients who have other connective tissue diseases, including Sjögren’s syndrome, dermatomyositis, and polymyositis.

Possible causes of secondary Raynaud’s phenomenon, other than connective tissue diseases, are carpal tunnel syndrome and obstructive arterial disease (blood vessel disease). Some drugs, including beta-blockers (used to treat high blood pressure), ergotamine preparations (used for migraine headaches), certain agents used in cancer chemotherapy, and drugs that cause vasoconstriction such as some over-the-counter cold medications and narcotics are linked to Raynaud’s phenomenon.

People in certain occupations may be more vulnerable to secondary Raynaud’s phenomenon. Some workers in the plastics industry (who are exposed to vinyl chloride) develop a scleroderma-like illness, of which Raynaud’s phenomenon can be a part. Workers who operate vibrating tools can develop a type of Raynaud’s phenomenon called vibration-induced white finger. In addition, people whose fingers are subject to repeated stress, such as typing or playing the piano, are more vulnerable to the disorder.

People with secondary Raynaud’s phenomenon often experience associated medical problems. The more serious problems are skin ulcers (sores) or gangrene (tissue death) in the fingers or toes. Painful ulcers and gangrene are fairly common and can be difficult to treat. In addition, a person may experience heartburn or difficulty in swallowing. These two problems are caused by weakness in the muscle of the esophagus (the tube that takes food and liquids from the mouth to the stomach) that can occur in people with connective tissue diseases.

How Does a Doctor Diagnose Raynaud’s Phenomenon?

If a doctor suspects Raynaud’s phenomenon, he or she will ask the patient for a detailed medical history. The doctor will then examine the patient to rule out other medical problems. The patient might have a vasospastic attack during the office visit, which makes it easier for the doctor to diagnose Raynaud’s phenomenon. Most doctors find it fairly easy to diagnose Raynaud’s phenomenon but more difficult to identify the form of the disorder. (See below for the criteria doctors use to diagnose primary or secondary Raynaud’s phenomenon.) Nailfold capillaroscopy (study of capillaries under a microscope) can help the doctor distinguish between primary and secondary Raynaud’s phenomenon. During this test, the doctor puts a drop of oil on the patient’s nailfolds, the skin at the base of the fingernail. The doctor then examines the nailfolds under a microscope to look for abnormalities of the tiny blood vessels called capillaries. If the capillaries are enlarged or deformed, the patient may have a connective tissue disease.

The doctor may also order two particular blood tests, an antinuclear antibody test (ANA) and an erythrocyte sedimentation rate (ESR). The ANA test determines whether the body is producing special proteins (antibodies) often found in people who have connective tissue diseases or other autoimmune disorders. The ESR test is a measure of inflammation in the body and tests how fast red blood cells settle out of un-clotted blood. Inflammation in the body causes an elevated ESR.

Diagnostic Criteria for Raynaud’s Phenomenon

1. Primary Raynaud’s Phenomenon

- Periodic vasospastic attacks of pallor or cyanosis (some doctors include the additional criterion of the presence of these attacks for at least 2 years)

- Normal nailfold capillary pattern

- Negative antinuclear antibody test

- Normal erythrocyte sedimentation rate

- Absence of pitting scars or ulcers of the skin, or gangrene (tissue death) in the fingers or toes

2. Secondary Raynaud’s Phenomenon

- Periodic vasospastic attacks of pallor and cyanosis

- Abnormal nailfold capillary pattern

- Positive antinuclear antibody test

- Abnormal erythrocyte sedimentation rate

- Presence of pitting scars or ulcers of the skin, or gangrene in the fingers or toes

What Is the Treatment for Raynaud’s Phenomenon?

The aims of treatment are to reduce the number and severity of attacks and to prevent tissue damage and loss in the fingers and toes. Most doctors are conservative in treating patients with primary and secondary Raynaud’s phenomenon; that is, they recommend non-drug treatments and self-help measures first. Doctors may prescribe medications for some patients, usually those with secondary Raynaud’s phenomenon. In addition, patients are treated for any underlying disease or condition that causes secondary Raynaud’s phenomenon.

Non-drug Treatments and Self-Help Measures

Several non-drug treatments and self-help measures can decrease the severity of Raynaud’s attacks and promote overall well-being.

Take Action During an Attack

An attack should not be ignored. Its length and severity can be lessened by a few simple actions. The first and most important action is to warm the hands or feet. In cold weather, people should go indoors. Running warm water over the fingers or toes or soaking them in a bowl of warm water will warm them. Taking time to relax will further help to end the attack. If a stressful situation triggers the attack, a person can help stop the attack by getting out of the stressful situation and relaxing. People who are trained in biofeedback can use this technique along with warming the hands or feet in water to help lessen the attack.

Keep Warm

It is important not only to keep the extremities warm but also to avoid chilling any part of the body. In cold weather, people with Raynaud’s phenomenon must pay particular attention to dressing. Several layers of loose clothing, socks, hats, and gloves or mittens are recommended. A hat is important because a great deal of body heat is lost through the scalp. Feet should be kept dry and warm. Some people find it helpful to wear mittens and socks to bed during winter. Chemical warmers, such as small heating pouches that can be placed in pockets, mittens, boots, or shoes, can give added protection during long periods outdoors. People who have secondary Raynaud’s phenomenon should talk to their doctors before exercising outdoors in cold weather. People with Raynaud’s phenomenon should also be aware that air conditioning can trigger attacks. Turning down the air conditioning or wearing a sweater may help prevent attacks. Some people find it helpful to use insulated drinking glasses and to put on gloves before handling frozen or refrigerated foods.

Quit Smoking

The nicotine in cigarettes causes the skin temperature to drop, which may lead to an attack.

Control Stress

Because stress and emotional upsets may trigger an attack, particularly for people who have primary Raynaud’s phenomenon, learning to recognize and avoid stressful situations may help control the number of attacks. Many people have found that relaxation or biofeedback training can help decrease the number and severity of attacks. Biofeedback training teaches people to bring the temperature of their fingers under voluntary control. Local hospitals and other community organizations, such as schools, often offer programs in stress management.

Exercise

Many doctors encourage patients who have Raynaud’s phenomenon, particularly the primary form, to exercise regularly. Most people find that exercise promotes overall well-being, increases energy level, helps control weight, and promotes restful sleep. Patients with Raynaud’s phenomenon should talk to their doctors before starting an exercise program.

See a Doctor

People with Raynaud’s phenomenon should see their doctors if they are worried or frightened about attacks or if they have questions about caring for themselves. They should always see their doctors if attacks occur only on one side of the body (one hand or one foot) and any time an attack results in sores or ulcers on the fingers or toes.

Treatment With Medications

People with secondary Raynaud’s phenomenon are more likely than those with the primary form to be treated with medications. Many doctors believe that the most effective and safest drugs are calcium-channel blockers, which relax smooth muscle and dilate the small blood vessels. These drugs decrease the frequency and severity of attacks in about two-thirds of patients who have primary and secondary Raynaud’s phenomenon. These drugs also can help heal skin ulcers on the fingers or toes.

Other patients have found relief with drugs called alpha-blockers that counteract the actions of norepinephrine, a hormone that constricts blood vessels. Some doctors prescribe a nonspecific vasodilator (drug that relaxes blood vessels), such as nitroglycerine paste, which is applied to the fingers, to help heal skin ulcers. Patients should keep in mind that the treatment for Raynaud’s phenomenon is not always successful. Often, patients with the secondary form will not respond as well to treatment as those with the primary form of the disorder.

Patients may find that one drug works better than another. Some people may experience side effects that require stopping the medication. For other people, a drug may become less effective over time. Women of childbearing age should know that the medications used to treat Raynaud’s phenomenon may affect the growing fetus. Therefore, women who are pregnant or are trying to become pregnant should avoid taking these medications if possible.

Self-Help Reminders

- Take action during an attack

- Keep warm

- Don’t smoke

- Control stress

- Exercise regularly

- See a doctor if questions or concerns develop

What Research Is Being Conducted To Help People Who Have Raynaud’s Phenomenon?

Researchers are studying the use of other drugs to treat Raynaud’s phenomenon; for example, oral and intravenous prostaglandins. Other investigators are studying the molecular mechanisms behind Raynaud’s phenomenon and the anatomy of blood vessels. Several medical centers in the United States are studying the use of biofeedback to control attacks. Researchers studying scleroderma and other connective tissue diseases are also investigating Raynaud’s phenomenon in relation to these diseases.

If you have any questions or are worried please speak with your doctor.

RHEUMATOID ARTHRITIS

Rheumatoid arthritis is one of the more difficult of the autoimmune rheumatic diseases to control and can do the most damage to the joints. The condition generally starts between the ages of 20 and 50, although it can begin at any age.

Rheumatoid arthritis is an autoimmune disease that usually affects many joints, most commonly the small joints of the hands. Inflammation and thickening of the tissue that lines the joints, which is the result of an autoimmune attack on the tissue, causes pain and swelling and, if uncontrolled, may cause destruction of the bones, deformity and, eventually, disability.

The severity of rheumatoid arthritis varies from person to person. In some cases, the disease may be mild, while in others it can be crippling. Its course is unpredictable. It can flare up suddenly, and just as quickly go into remission. Although emotional stress is not a direct cause of rheumatoid arthritis, it can hasten progression of the disease and make it worse.

MIXED CONNECTIVE TISSUE DISORDER

Mixed Connective Tissue Disorder is an autoimmune process with symptoms of Scleroderma, Myositis, Systemic Lupus Erythematosus , Rheumatoid Arthritis and/or other autoimmune diseases. It is a description of a group of symptoms occurring together. This is different from a diagnosis that describes the underlying process.

It is a disorder of the immune system, which normally functions to protect the body against invading infections and cancers, and toxins. In Mixed Connective Tissue Disorder, as in other autoimmune diseases parts of the complex immune system is over-active and produces increased amounts of abnormal antibodies that attack the patient’s own organs.

Sometimes MCTD is called Overlap Syndrome or Undifferentiated Mixed Connective Tissue Disorder. Some writers discriminate between them claiming that each of these are different. Some argue MCTD is not a distinct entity at all, and is just one of the forms of Lupus or Scleroderma.

MCTD can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, endocrine, digestive, and nervous system, blood vessels which all are made up of connective tissue. There are reports of psychiatric disturbances similar to those found in Lupus. The signs and symptoms of MCTD differ from person to person, with the symptoms of either Lupus, or Scleroderma, or Myositis or other autoimmune disease being most prevalent. Since its manifestations can vary it is often misdiagnosed. The disease can range from mild to life threatening. It can be mild for many years, and then after about 20 years of having the disease a medical crisis may occur. The lungs and kidneys are particularly at risk. Lungs and kidneys symptoms are particularly serious involvement and should be monitored vigilantly by both the doctor and the patient.

The treatment of mixed connective tissue disease depends on which features are causing symptoms. Treatment is often directed at suppressing the inflammation in the tissues by using anti-inflammatory and immunosuppressive medications. These medications include nonsteroidal anti-inflammatory drugs ( NSAIDs), cortisone drugs/steroids (such as prednisone), and cytotoxic drugs (such as methotrexate, azathioprine, and cyclophosphamide). Organ damage, such as in the kidneys, can require additional treatment directed at high blood pressure, etc.