How is sarcoidosis diagnosed?

Sarcoidosis is diagnosed by taking a detailed medical history and conducting a physical exam and several diagnostic tests. The purpose is to:

Identify the presence of granulomas in any of the organs.

Rule out other causes of the symptoms.

Determine the amount of damage to any of the affected organs.

Determine whether a person needs treatment.

Medical history

A doctor will ask for a detailed medical history. He or she will want to know about any family history of sarcoidosis and what jobs a person has had that may have increased their chances of getting sarcoidosis.

The doctor may also ask whether a person has ever been exposed to inhaled beryllium metal, which is used in aircraft and weapons manufacture, or organic dust from birds or hay. These things can produce granulomas in the lungs that look like the granulomas that are caused by sarcoidosis but are actually signs of other conditions.

Physical exam

A doctor will look for symptoms of sarcoidosis, such as red bumps on the skin; swollen lymph nodes; an enlarged liver, spleen, or salivary gland(s); or redness in the eyes. He or she will also listen for abnormal lung sounds or heart rhythm, and will check for other likely causes of the symptoms.

Diagnostic tests

There is no one specific test for diagnosing sarcoidosis. It is harder to diagnose sarcoidosis in some organs (e.g., heart, nervous system) than in others. A doctor will probably conduct a variety of tests and procedures to help in the diagnosis.

These include:

Chest X-ray. A chest X-ray takes a picture of the heart and lungs. It may show granulomas or enlarged lymph nodes in the chest. About 95 out of every 100 people who have sarcoidosis have an abnormal chest X-ray.

Doctors usually use a staging system for chest X-rays taken to detect sarcoidosis:

Stage 0: Normal chest X-ray

Stage 1: Chest X-ray showing enlarged lymph nodes but otherwise clear lungs

Stage 2: Chest X-ray showing enlarged lymph nodes and shadows in the lungs

Stage 3: Chest X-ray showing shadows in the lungs, but the lymph nodes are not enlarged

Stage 4: Chest X-ray showing scars in the lung tissue.

In general, the higher the stage of the X-ray, the worse the symptoms and lung function are. But there are a lot of differences among people. If the X-ray results show Stages 0, 1, 2, or 3, the patient may not have symptoms or need treatment, and may get better and have normal chest X-rays again over time.

Blood tests

These tests can show the number and type of cells in the blood. They also will show whether there are increases in the calcium levels or changes in the liver, kidney, and bone marrow that can occur with sarcoidosis.

Lung function tests

One test uses a spirometer, a device that measures how much and how fast a person can blow air out of their lungs after taking a deep breath. If there is a lot of inflammation and/or scarring in the lungs, a person will not be able to move normal amounts of air in and out.

Another test measures how much air the lungs can hold. Sarcoidosis can cause the lungs to shrink, and they will not be able to hold as much air as healthy lungs.

Electrocardiogram (EKG)

This test will help show if the heart is affected by sarcoidosis.

Pulse oximetry

A small clip attached to the finger tip can show how well the heart and lungs are moving oxygen into the blood.

Arterial blood gas test.

This test is more accurate than pulse oximetry for checking the level of oxygen in the bloodstream. Blood is taken from an artery (usually in the wrist). It is then analyzed for its oxygen and carbon dioxide levels.

Fiberoptic bronchoscopy

In this procedure, a doctor inserts a long, narrow, flexible tube with a light on the end through the nose or mouth into the lungs to look at your airways. This tube is called a bronchoscope. A person most likely would have this procedure as an outpatient in a hospital under local anesthesia.

Bronchoalveolar lavage (BAL)

During bronchoscopy, a doctor may inject a small amount of salt water (saline) through the bronchoscope into the lungs. This fluid washes the lungs and helps bring up cells and other material from the air sacs deep in the lungs where the inflammation usually starts to develop. The cells and fluid are then examined for signs of inflammation.

Biopsy

A doctor may take a small sample of tissue from one of the affected organs. For example, when breathing tests or chest X-rays show signs of sarcoidosis in the lungs, a doctor may do a fiberoptic bronchoscopy biopsy. This will help confirm the diagnosis. Tiny forceps as inserted through the bronchoscope to collect tissue that will be examined. Because the granulomas may be spread out in the lungs, the bronchoscope may miss some of them.

Biopsies of the skin and liver are sometimes done to detect granulomas in these organs.

A person may have sarcoidosis in other organs as well and multiple biopsies may be necessary. However, every organ involved does not need to be biopsied for a diagnosis to be made.

Computed tomography (CT) scan

This test provides a computer-generated image of the organs that has more detail than a regular chest X-ray. It can provide more information about how sarcoidosis has affected an organ.

A doctor may do a CT scan to:

Obtain more information about how much of the lung is affected by sarcoidosis.

Detect sarcoidosis in the liver. A CT scan of the abdomen will show if the liver is enlarged and if there is a pattern suggesting granulomas.

Magnetic resonance (MR) scan

This test is also called nuclear magnetic resonance (NMR) scanning or magnetic resonance imaging (MRI). This scan uses powerful magnets and radio waves to make images of some of the organs that a doctor doesn’t want to risk doing a biopsy on. For example, an MR scan can be used to diagnose sarcoidosis in the brain, spinal cord, nerves, or heart.

Thallium and gallium scans

These scans are often done to see if sarcoidosis is affecting the heart. Thallium and gallium are radioactive elements. A doctor injects a small amount of one of them into the patient’s vein in the arm. The elements collect at places in the body where there is inflammation. After a while, the body is scanned for radioactivity. Increased radioactivity at any place may be a sign of inflammation.

This test gives information on the tissue in the body that has been affected by sarcoidosis and the amount of damage to it. But since this test shows all inflammation in the body, even inflammation caused by conditions other than sarcoidosis, it does not give a definite diagnosis of sarcoidosis.

Positron emission tomography (PET) scan

This test also uses radioactive injections. It may be more sensitive than gallium in detecting areas of inflammation. Some doctors are using it instead of gallium scans.

Your doctor may not need to find every one of the organs affected by sarcoidosis, only those that cause symptoms. Often the organs affected by the condition continue to function well and don’t need to be treated.

How is sarcoidosis treated?

The goals of treatment are to:

Improve how the organs affected by sarcoidosis work

Relieve symptoms

Shrink the granulomas.

Treatment may shrink the granulomas and even cause them to disappear, but this may take many months. If scars have formed, treatment may not help, and a person may have ongoing symptoms.

A person’s treatment depends on:

What symptoms he or she has

How severe the symptoms are

Whether any of the vital organs (e.g., the lungs, eyes, heart, or brain) are affected

How the organ is affected.

Some organs must be treated, regardless of the symptoms. Others may not need to be treated. Usually, if a person doesn’t have symptoms, he or she doesn’t need treatment, and they probably will recover in time.

Drugs

The main treatment for sarcoidosis is prednisone. Prednisone is a corticosteroid, or anti-inflammatory drug. Sometimes it is used with other drugs. Sometimes other corticosteroids are used.

Prednisone almost always relieves symptoms of inflammation. If a symptom doesn’t improve with prednisone treatment within a couple of months, consult your physician.

Prednisone is usually given for many months, sometimes for a year or more.

Low doses of prednisone can often relieve symptoms without causing major side effects.

When used at high doses, prednisone can cause serious side effects.

Side effects can include:

Weight gain.

Diabetes.

High blood pressure.

Mood swings (depression).

Difficulty sleeping at night.

Heartburn.

Acne.

Thinning of the skin and bones (called osteoporosis).

Cataracts.

Glaucoma.

Adrenal gland insufficiency, which occurs when the adrenal glands don’t make enough of certain hormones. This requires treatment by an endocrinologist, a doctor who specializes in the diagnosis and treatment of the endocrine glands. The endocrine glands include the adrenal and pituitary glands.

Aseptic or avascular necrosis of the hip, the development of cysts and hardened and dead tissue in the hip. A doctor can usually help a person manage these side effects.

When it is time to stop taking prednisone, a person should cut back slowly, with a doctor’s help. This will help prevent flare-ups of sarcoidosis and allow the body to adjust to life without the drug.

A person may also want to see an endocrinologist to make sure that the endocrine glands are making enough hormones. The endocrinologist may prescribe certain hormones for the patient to take until their endocrine glands are working well again.

Other drugs used to treat sarcoidosis

Other drugs are sometimes used to treat sarcoidosis. A doctor may prescribe one of them if:

A person’s condition gets worse while they are taking prednisone

A person can’t stand the side effects of prednisone.

Most of these other drugs are immune system suppressants. This means that they prevent the immune system from fighting things like bacteria and viruses. As a result, a person may have a greater chance of getting infections.

Most of these drugs also can cause serious side effects. Some also could increase the chances of getting cancer, especially if they are taken at high doses.

A person and his or her doctor must weigh living with the symptoms of sarcoidosis against the side effects of the drugs.

Some drugs work better than others for different people.

A person may be given more than one drug.

Some drugs used to treat sarcoidosis are taken by mouth. Others are applied locally to an affected area.

Local therapy is the safest way to treat sarcoidosis. The drug is applied directly to the affected area. As a result, only small amounts of the drug reach other parts of the body.

Drugs used for local therapy include:

Eye drops

Inhaled drugs for the lungs

Skin creams.

Drugs can be used locally only if the affected area is easily reached. For instance, inhaled steroids can ease coughing and wheezing in the upper airways, but they don’t seem to relieve these symptoms when the affected lung tissue is deep within the chest.

A person should talk with their doctor about these treatments and the side effects that may occur.

The other drugs used to treat sarcoidosis include:

Hydroxychloroquine (Plaquenil). This drug can usually help people who have sarcoidosis in the skin or a high level of calcium in their blood. This drug can irritate the stomach. It also can cause eye problems. Before starting on this drug, a person should see an ophthalmologist, or eye doctor, for some baseline tests. Once a person starts taking it, they should have their eyes examined every 6 months.

Methotrexate. This drug is taken once a week by mouth or injection and usually takes up to 6 months to relieve symptoms. This drug may cause side effects, especially if taken in high doses. These include:

Nausea.

Mouth sores.

A decrease in infection-fighting white blood cells. A person then has a greater chance of getting an infection. If this drug is taken, a person should have regular blood tests to check the levels of their white blood cells.

An allergic reaction in the lungs that goes away when the person stops taking the drug. This is extremely rare.

Liver damage. This is the most serious side effect. If methotrexate is taken, a person should be monitored regularly by a physician.

If a person is pregnant, they should not take this drug. Taking folic acid can help reduce the chances of having bad side effects from methotrexate.

Azathioprine (Imuran). This drug may work in about half of the people who have sarcoidosis. It is usually taken for at least 6 months. Side effects include:

Nausea

Reduced white blood cell levels, which increases a person’s chances of getting an infection.

This drug has caused cancer in some people, especially when they have taken it at high doses. It should not be taken by patients who are pregnant.

Cyclophosphamide (Cytoxan). This is a very toxic drug. It is rarely used to treat sarcoidosis. It is given only to people who have serious forms of sarcoidosis, such as sarcoidosis in their central nervous system (neurosarcoidosis). This drug is more likely to cause nausea and reduce the white blood cell levels than either methotrexate or azathioprine. A doctor should check the white blood cell levels often while a person is taking this drug to make sure they have a high enough level to fight infection. Cyclophosphamide can also irritate the bladder. Some people who have taken it for more than 2 years have developed bladder cancer. It should not be taken during pregnancy. Cyclophosphamide can be given intravenously (through one of the veins), which lessens some of its side effects, but this doesn’t reduce the risk of cancer.

Treatments for specific types of sarcoidosis

Eyes. Sarcoidosis in the eyes almost always responds well to treatment. Often, the only treatment needed is eye drops containing corticosteroids. A person should have yearly eye exams, even if they think their eyes are doing well.

Spleen. Sarcoidosis can cause the spleen to enlarge. This can lead to a decrease in the red or white blood cells or platelets and increase the chances of infection and blood clotting disorders. Treatment is usually given to increase the number of blood cells and ease pain. In rare cases, the spleen may need to be removed.

Liver. Sarcoidosis rarely causes permanent liver damage. As a result, the liver usually isn’t treated unless it’s causing major symptoms (e.g., fever). Drug treatment can usually reduce granulomas in the liver. Liver transplantation has been successful in those rare cases in which the condition has become worse. Followup care includes regular blood tests to find out how well your liver is working. A person should check with their doctor to find out how often they need these tests.

Nervous system. Sarcoidosis in the nervous system (neurosarcoidosis) usually needs treatment. Nerve tissue heals slowly, so treatment often takes a long time. A person may need to take several drugs at high doses.

Erythema nodosum. These painful bumps on the shins often go away in weeks to months without treatment. A doctor probably will not give medication unless a person is very uncomfortable. Aspirin or ibuprofen, an anti-inflammatory drug that can be bought without a prescription, will usually help.

Heart. Sarcoidosis in the heart is usually treated with steroids. Heart drugs may also be given to improve the heart’s pumping ability or to correct a disturbed heart rhythm. If a person has a severe heart rhythm disturbance, their doctor may prescribe one of these devices:

A cardiac pacemaker, a small battery-operated device, often put under the skin, that regulates the heartbeat

A defibrillator, an implanted device that shocks the heart into a normal heartbeat or, if it has stopped, into beating.

If the heart is severely affected and doesn’t respond to treatment, a transplant may be done. But this is rarely needed.

Lupus Pernio. This rash on the face, especially the cheeks and nose, can be distressing because it’s in a very visible area. It often occurs with loss of the sense of smell, nasal stuffiness, and sinus infections. Options for treatment include:

Local treatment with skin creams

Oral drugs (plaquenil or prednisone, for example)

Local injections of steroid preparations.

Lupus pernio is often treated by dermatologists, doctors who specialize in skin diseases, working with a sarcoidosis specialist. Because sarcoidosis varies so much among different people, a doctor may find it hard to tell whether the treatment is helping.

Other drugs being studied for possible use in treating sarcoidosis

Scientists also are studying drugs that are used for other conditions to see if they can help people who have sarcoidosis. These drugs include:

Etanercept (Enbrel). This drug is an immune system suppressant. It’s injected under the skin to reduce symptoms of rheumatoid arthritis. It may also be used to treat psoriasis or ankylosing spondylitis, a type of arthritis that affects the joints in the spine. Early studies suggest that it will not be useful in treating sarcoidosis, but research is ongoing.

Infliximab (Remicaide). This drug is an immune system suppressant. It’s injected into a vein in the arm. It’s used to treat Crohn’s Disease, rheumatoid arthritis, and ankylosing spondylitis. Some studies have shown it to help sarcoidosis patients who also have lupus pernio, eye disease, or neurosarcoidosis. This drug has serious side effects but may improve lung function in some people who aren’t helped by corticosteroids. More research is needed.

Pentoxifylline. This drug is an immune system suppressant. Stomach and gastrointestinal side effects are common. Early studies show that it has helped some people who have sarcoidosis in their lungs reduce their doses of prednisone while taking it. More research is needed.

Tetracycline. Tetracycline antibiotics are used to treat Lyme Disease, some types of pneumonia, and acne. A few small studies suggest that they may help in treating sarcoidosis in the skin. Research is ongoing.

Thalidomide. This immune system suppressant can cause bad side effects. It is effective against other conditions that involve granulomas of the skin (e.g., leprosy, tuberculosis). Scientists are studying this drug to see if it can be used to treat sarcoidosis in the skin.

What does the future hold?

Scientists worldwide are trying to learn more about sarcoidosis and how to improve its diagnosis and treatment. Some recent studies have led to possible new treatments, which, in turn, are being studied. Current research includes studies of:

The agent or agents that cause sarcoidosis

Why sarcoidosis seems to act differently in people of different races

Why sarcoidosis appears in some families

How genes, passed from one generation to another, may make some people more likely than others to develop sarcoidosis

How cells act and communicate with each other to cause sarcoidosis symptoms.

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Disclaimer:

The comments from individuals, regarding their personal experiences with treatments of choice, successes or disappointments relating to specific medications, either medical prescriptions and or alternative homeopathic medicines or nutritional substances, is not intended to provide a basis for action in particular circumstances without consideration and consultation by a competent physician or professional. Please consult your primary care physician or doctor who is attending to your health care as a safety precaution. In addition, the posting of testimonials or any comparative information is for the sole purpose of offering information, education, and alternative opportunities for our readers and in no way should be construed as a directive on the part of the Armsted R. Christian Foundation for Sarcoidosis Research. If professional advice or other expert assistance is required, the services of a competent physician or professional person should be sought.