Sarcoidosis Causes, Signs, Symptoms, Diagnosis, Treatment

Sarcoidosis Causes, Signs, Symptoms, Diagnosis, Treatment


What Is Sarcoidosis?


Sarcoidosis is a disease due to inflammation. It can appear in almost any body organ, but most often starts in the lungs or lymph nodes.

No one yet knows what causes sarcoidosis. The disease can appear suddenly and disappear. Or it can develop gradually and go on to produce symptoms that come and go, sometimes for a lifetime.

Sarcoidosis can affect any organ in your body. However, it's more likely to affect some organs than others. The disease usually starts in the lungs, skin, and/or lymph nodes (especially the lymph nodes in your chest).

As sarcoidosis progresses, small lumps, or granulomas, appear in the affected tissues. In the majority of cases, these granulomas clear up, either with or without treatment.

In the few cases where the granulomas do not heal and disappear, the tissues tend to remain inflamed and become scarred (fibrotic).

Sarcoidosis was first identified over 100 years ago by two dermatologists working independently, Dr. Jonathan Hutchinson in England and Dr. Caesar Boeck in Norway. Sarcoidosis was originally called Hutchinson's disease or Boeck's disease. Dr. Boeck went on to fashion today's name for the disease from the Greek words "sark" and "oid," meaning flesh-like. The term describes the skin eruptions that are frequently caused by the illness.

Treatment for sarcoidosis varies depending on which organs are affected. Your doctor may prescribe topical treatments and/or medicines to treat the disease. Not everyone who has sarcoidosis needs treatment.

Causes of Sarcoidosis 


Doctors don't know the exact cause of sarcoidosis. Some people appear to have a genetic predisposition to developing the disease, which may be triggered by exposure to specific bacteria, viruses, dust or chemicals. Researchers are still trying to pinpoint the genes and trigger substances associated with sarcoidosis.

Normally, your immune system helps protect your body from foreign substances and invading microorganisms, such as bacteria and viruses. But in sarcoidosis, some immune cells collect in a pattern of inflammation called granulomas. As granulomas build up in an organ, the function of that organ can be affected.

Risk factors of Sarcoidosis 


While anyone can develop sarcoidosis, factors that may increase your risk include:

  • Age and sex. Sarcoidosis often occurs between the ages of 20 and 40. Women are slightly more likely to develop the disease.
  • Race. African-Americans have a higher incidence of sarcoidosis than do white Americans. Also, sarcoidosis may be more severe and may be more likely to recur and cause lung problems in African-Americans.
  • Family history. If someone in your family has had sarcoidosis, you are more likely to develop the disease yourself.

Who Gets Sarcoidosis?


Sarcoidosis was once considered a rare disease. We now know that it is a common chronic illness that appears all over the world. Indeed, it is the most common of the fibrotic lung disorders, and occurs often enough in the United States for Congress to have declared a national Sarcoidosis Awareness Day in 1990.
Anyone can get sarcoidosis. It occurs in all races and in both sexes. Nevertheless, the risk is greater if you are a young black adult, especially a black woman, or of Scandinavian, German, Irish, or Puerto Rican origin. No one knows why.

Because sarcoidosis can escape diagnosis or be mistaken for several other diseases, we can only guess at how many people are affected. The best estimate today is that about 5 in 100,000 white people in the United States have sarcoidosis. Among black people, it occurs more frequently, in probably 40 out of 100,000 people.

Overall, there appear to be 20 cases per 100,000 in cities on the east coast and somewhat fewer in rural locations. Some scientists, however, believe that these figures greatly underestimated the percentage of the U.S. population with sarcoidosis.

Sarcoidosis mainly affects people between 20 to 40 years of age. White women are just as likely as white men to get sarcoidosis, but the black female gets sarcoidosis two times as often as the black male.

No one knows what causes sarcoidosis.


Sarcoidosis also appears to be more common and more severe incertain geographic areas. It has long been recognized as a common disease in Scandinavian countries, where it is estimated to affect 64 out of 100,000 people. But it was not until the mid-1940's--when a large number of cases were identified during mass chest x-ray screening for the Armed Forces--that its high prevalence was recognized in North America.

What Are the Signs and Symptoms of Sarcoidosis?


In addition to the lungs and lymph nodes, the body organs more likely than others to be affected by sarcoidosis are the liver, skin, heart, nervous system, and kidneys, in that order of frequency. Patients can have symptoms related to the specific organ affected, they can have only general symptoms, or they can be without any symptoms whatsoever. Symptoms also can vary according to how long the illness has been under way, where the granulomas are forming, how much tissue has become affected, and whether the granulomatous process is still active.

Even when there are no symptoms, a doctor can sometimes pick up signs of sarcoidosis during a routine examination, usually a chest x-ray, or when checking out another complaint. The patient's age and race or ethnic group can raise an additional red flag that a sign or symptom of illness could be related to sarcoidosis. Enlargement of the salivary or tear glands and cysts in bone tissue are also among sarcoidosis signals.

The signs and symptoms of sarcoidosis vary depending on which organs are affected. Signs and symptoms also may vary depending on your gender, age, and ethnic background.

Common Signs and Symptoms of Sarcoidosis


In both adults and children, sarcoidosis most often affects the lungs. If granulomas (inflamed lumps) form in your lungs, you may wheeze, cough, feel short of breath, or have chest pain. Or, you may have no symptoms at all.

Some people who have sarcoidosis feel very tired, uneasy, or depressed. Night sweats and weight loss are common symptoms of the disease.

Common signs and symptoms in children are fatigue (tiredness), loss of appetite, weight loss, bone and joint pain, and anemia.

Children who are younger than 4 years old may have a distinct form of sarcoidosis. It may cause enlarged lymph nodes in the chest (which can be seen on chest x-ray pictures), skin lesions, and eye swelling or redness.

Other Signs and Symptoms of Sarcoidosis


Sarcoidosis may affect your lymph nodes. The disease can cause enlarged lymph nodes that feel tender. Sarcoidosis usually affects the lymph nodes in your neck and chest. However, the disease also may affect the lymph nodes under your chin, in your armpits, or in your groin.

Sarcoidosis can cause lumps, ulcers (sores), or areas of discolored skin. These areas may itch, but they don't hurt. These signs tend to appear on your back, arms, legs, and scalp. Sometimes they appear near your nose or eyes. These signs usually last a long time.

Sarcoidosis may cause a more serious skin condition called lupus pernio. Disfiguring skin sores may affect your nose, nasal passages, cheeks, ears, eyelids, and fingers. These sores tend to be ongoing. They can return after treatment is over.

Sarcoidosis also can cause eye problems. If you have sarcoidosis, having an annual eye exam is important. If you have changes in your vision and can't see as clearly or can't see color, call 9–1–1 or have someone drive you to the emergency room.

You should call your doctor if you have any new eye symptoms, such as burning, itching, tearing, pain, or sensitivity to light.

Signs and symptoms of sarcoidosis also may include an enlarged liver, spleen, or salivary glands.

Although less common, sarcoidosis can affect the heart and brain. This can cause many symptoms, such as abnormal heartbeats, shortness of breath, headaches, and vision problems. If sarcoidosis affects the heart or brain, serious complications can occur.

Lofgren's Syndrome


Lofgren's syndrome is a classic set of signs and symptoms that occur in some people when they first have sarcoidosis. Signs and symptoms may include:

  • Fever. This symptom only occurs in some people.
  • Enlarged lymph nodes (which can be seen on a chest x ray).
  • Arthritis, usually in the ankles. This symptom is more common in men than women.
  • Erythema nodosum. This is a rash of red or reddish-purple bumps on your ankles and shins. The rash may be warm and tender to the touch. This symptom is more common in women than men.

Some things we don't know about sarcoidosis


Sarcoidosis is currently thought to be associated with an abnormal immune response. It is not known whether the trigger that initiates the immune disturbance is a foreign substance, chemical, drug, virus, or some other substance.

In general, sarcoidosis appears briefly and heals naturally in 60%-70% of the cases, often without the patient knowing or doing anything about it. From 20%-30% of sarcoidosis patients are left with some permanent lung damage. In 10%-15% of the patients, sarcoidosis can become chronic.

When either the granulomas or fibrosis seriously affect the function of a vital organ—the lungs, heart, nervous system, liver, or kidneys, for example—sarcoidosis can be fatal. This occurs 5%-10% of the time. Some people are more at risk than others; no one knows why.

No one can predict how sarcoidosis will progress in an individual patient. The patient's symptoms, race, and the doctor's findings can give some clues. For example, a sudden onset of general symptoms, such as weight loss or feeling generally ill, are usually taken to mean that the course of sarcoidosis will be relatively short and mild. Dyspnea and possibly skin sarcoidosis often indicate that the sarcoidosis will be more chronic and severe.

White patients are more likely to develop the milder form of the disease. Black people tend to develop the more chronic and severe form.

Sarcoidosis rarely develops before the age of 10 or after the age of 60. However, the illness—with or without symptoms—has been reported in younger as well as in older people. When symptoms do appear in these age groups, the symptoms are those that are more general in nature, for example, tiredness, sluggishness, coughing, and a general feeling of ill health.

How Is Sarcoidosis Diagnosed?


There is no single way to diagnose sarcoidosis, since all the symptoms and laboratory results can occur in other diseases. For this reason, your doctor will carefully review your medical history and examine you to determine if you have sarcoidosis. The main tools your doctor will use to diagnose sarcoidosis include:

Chest X-rays to look for cloudiness (pulmonary infiltrates) or swollen lymph nodes (lymphadenopathy).

  • CT scan to provide an even more detailed look at the lungs and lymph nodes than provided by a chest X-ray.
  • Pulmonary function (breathing) tests to measure how well the lungs are working.
  • Bronchoscopy to inspect the bronchial tubes and to extract a biopsy (a small tissue sample) to look for granulomas and to obtain material to rule out infection. Bronchoscopy involves passing a small tube (bronchoscope) down the trachea (windpipe) and into the bronchial tubes (airways) of the lungs.

How Is Sarcoidosis Treated?



Not everyone who has sarcoidosis needs treatment. Sometimes the disease goes away on its own. Whether you need treatment and what type of treatment you need depend on your signs and symptoms, which organs are affected, and whether those organs are working well.

If the disease affects certain organs—such as your eyes, heart, or brain—you'll need treatment even if you don't have any symptoms.

In either case, whether you have symptoms or not, you should see your doctor for ongoing care. He or she will want to check to make sure that the disease isn't damaging your organs. For example, you may need routine lung function tests to make sure that your lungs are working well.

If the disease isn't worsening, your doctor may watch you closely to see whether the disease goes away on its own. If the disease does start to get worse, your doctor can prescribe treatment.

The goals of treatment include:

  • Relieving symptoms
  • Improving organ function
  • Controlling inflammation and reducing the size of granulomas (inflamed lumps)
  • Preventing pulmonary fibrosis (lung scarring) if your lungs are affected
Your doctor may prescribe topical treatments and/or medicines to treat the disease.

Treatments generally fall into two categories -- maintenance of good health practices and drug treatment. 

Good health practices include:


  • Getting regular check-ups with your health care provider
  • Eating a well-balanced diet with a variety of fresh fruits and vegetables
  • Drinking eight to 10, 8-ounce glasses of water a day
  • Getting six to eight hours of sleep each night
  • Exercising regularly and managing your weight
  • Quitting smoking

Medicines


Prednisone

Prednisone, a type of steroid, is the main treatment for sarcoidosis. This medicine reduces inflammation. In most people, prednisone relieves symptoms within a couple of months.

Although most people need to take prednisone for 12 months or longer, your doctor may lower the dose within a few months after you start the medicine.

Long-term use of prednisone, especially at high doses, can cause serious side effects. Work with your doctor to decide whether the benefits of this medicine outweigh the risks. If your doctor prescribes this treatment, he or she will find the lowest dose that controls your disease.

When you stop taking prednisone, you should cut back slowly (as your doctor advises). This will help prevent flareups of sarcoidosis. Cutting back slowly also allows your body to adjust to not having the medicine.

If a relapse or flareup occurs after you stop taking prednisone, you may need a second round of treatment. If you remain stable for more than 1 year after stopping this treatment, the risk of relapse is low.

Other Medicines


Other medicines, besides prednisone, also are used to treat sarcoidosis. Examples include:

  • Hydroxychloroquine or chloroquine (known as antimalarial medicines). These medicines work best for treating sarcoidosis that affects the skin or brain. Your doctor also may prescribe an antimalarial if you have a high level of calcium in your blood due to sarcoidosis.
  • Medicines that suppress the immune system, such as methotrexate, azathioprine, or leflunomide. These medicines work best for treating sarcoidosis that affects your lungs, eyes, skin, or joints.
Your doctor may prescribe these medicines if your sarcoidosis worsens while you're taking prednisone or if you can't handle prednisone's side effects.

If you have Lofgren's syndrome with pain or fever, your doctor may prescribe nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen.

If you're wheezing and coughing, you may need inhaled medicine to help open your airways. You take inhaled medicine using an inhaler. This device allows the medicine to go straight to your lungs.

Anti-tumor necrosis factor drugs, originally developed to treat arthritis, are being studied to treat sarcoidosis.

What Can Happen As Sarcoidosis Progresses?


In many people with sarcoidosis, the disease appears briefly and then disappears without the person even knowing they have the disease. Twenty percent to 30% of people have some permanent lung damage. For 10% to 15%, sarcoidosis is a chronic condition. In some people, the disease may result in the deterioration of the affected organ. Rarely, sarcoidosis can be fatal. Death usually is the result of complications with the lungs, heart, or brain.



Management for Sarcoidosis


Fortunately, many patients with sarcoidosis require no treatment. Symptoms, after all, are usually not disabling and do tend to disappear spontaneously.

When therapy is recommended, the main goal is to keep the lungs and other affected body organs working and to relieve symptoms. The disease is considered inactive once the symptoms fade. After many years of experience with treating the disease, corticosteroids remain the primary treatment for inflammation and granuloma formation. Prednisone is probably the corticosteroid most often prescribed today. There is no treatment at present to reverse the fibrosis that might be present in advanced sarcoidosis.

More than one test is needed to diagnose sarcoidosis. Tests can also show if you are getting better.


Occasionally, a blood test will show a high blood level of calcium accompanying sarcoidosis. The reasons for this are not clear. Some scientists believe that this condition is not common. When it does occur, the patient may be advised to avoid calcium-rich foods, vitamin D, or sunlight, or to take prednisone; this corticosteroid quickly reverses the condition.

Because sarcoidosis can disappear even without therapy, doctors sometimes disagree on when to start the treatment, what dose to prescribe, and how long to continue the medicine. The doctor's decision depends on the organ system involved and how far the inflammation has progressed. If the disease appears to be severe-especially in the lungs, eyes, heart, nervous system, spleen, or kidneys-the doctor may prescribe corticosteroids.

Corticosteroid treatment usually results in improvement. Symptoms often start up again, however, when it is stopped. Treatment, therefore, may be necessary for several years, sometimes for as long as the disease remains active or to prevent relapse.

Frequent checkups are important so that the doctor can monitor the illness and, if necessary, adjust the treatment. Corticosteroids, for example, can have side effects-mood swings, swelling, and weight gain because the treatment tends to make the body hold on to water; high blood pressure; high blood sugar; and craving for food. Long-term use can affect the stomach, skin, and bones. This situation can bring on stomach pain, an ulcer, or acne, or cause the loss of calcium from bones. However, if the corticosteroid is taken in carefully prescribed, low doses, the benefits from the treatment are usually far greater than the problems.

Most people with sarcoidosis lead a normal life.


Besides corticosteroids, various other drugs have been tried, but their effectiveness has not been established in controlled studies. These drugs include chloroquine and D-penicillamine.

Several drugs such as chlorambucil, azathioprine, methotrexate, and cyclophosphamide, which might suppress alveolitis by killing the cells that produce granulomas, have also been used. None has been evaluated in controlled clinical trials, and the risk of using these drugs is high, especially in pregnant women.

Cyclosporine, a drug used widely in organ transplants to suppress immune reaction, has been evaluated in one controlled trial. It was found to be unsuccessful.

Living with Sarcoidosis


The cause of sarcoidosis still remains unknown, so there is at present no known way to prevent or cure this disease. However, doctors have had a great deal of experience in management of the illness.
If you have sarcoidosis, you can help yourself by following sensible health measures. You should not smoke. You should also avoid exposure to other substances such as dusts and chemicals that can harm your lungs.

Patients with sarcoidosis are best treated by a lung specialist or a doctor who has a special interest in sarcoidosis. Sarcoidosis specialists are usually located at major research centers.

If you have any symptoms of sarcoidosis, see your doctor regularly so that the illness can be watched and, if necessary, treated. If it heals naturally, sarcoidosis is unlikely to recur. Nevertheless, if you have had sarcoidosis, or are suspected of having the illness but have no symptoms now, be sure to have physical checkups every year, including an eye examination.

Although severe sarcoidosis can reduce the chances of becoming pregnant, particularly for older women, many young women with sarcoidosis have given birth to healthy babies while on treatment. Patients planning to have a baby should discuss the matter with their doctor. Medical checkups all through pregnancy and immediately thereafter are especially important for sarcoidosis patients. In some cases, bed rest is necessary during the last 3 months of pregnancy.

In addition to family and close friends, a number of local lung organizations, other nonprofit health organizations, and self-help groups are available to help patients cope with sarcoidosis. By keeping in touch with them, you can share personal feelings and experiences. Members also share specific information on the latest scientific advances, where to find sarcoidosis specialists, and how to improve one's self-image.