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Sarcoidosis

 

Sarcoidosis (sar"koi-do'sis) involves inflammation that produces tiny lumps of cells in various organs in your body. The lumps are called granulomas (gran"u-lo'mahs) because they look like grains of sugar or sand. They are very small and can be seen only with a microscope.
These tiny granulomas can grow and clump together, making many large and small groups of lumps. If many granulomas form in an organ, they can affect how the organ works. This can cause symptoms of sarcoidosis.
Sarcoidosis can occur in almost any part of your body, although it usually affects some organs more than others. It usually starts in one of two places:
  • Lungs
  • Lymph nodes, especially the lymph nodes in your chest cavity.
    • Sarcoidosis also often affects your:
      • Skin
      • Eyes
      • Liver.
      • Less often, sarcoidosis affects your:
        • Spleen
        • Brain
        • Nerves
        • Heart
        • Tear glands
        • Salivary glands
        • Bones and joints.
        Rarely, sarcoidosis affects other organs, including your:
        • Thyroid gland
        • Breasts
        • Kidneys
        • Reproductive organs.
        Sarcoidosis almost always occurs in more than one organ at a time.

        Sarcoidosis has an active and a nonactive phase:

        In the active phase, the granulomas form and grow. In this phase, symptoms can develop, and scar tissue can form in the organs where the granulomas occur.
        In the nonactive phase, the inflammation goes down, and the granulomas stay the same size or shrink. But the scars may remain and cause symptoms.

        The course of the disease varies greatly among people.
        In many people, sarcoidosis is mild. The inflammation that causes the granulomas may get better on its own. The granulomas may stop growing or shrink. Symptoms may go away within a few years.
        In some people, the inflammation remains but doesn't get worse. You may also have symptoms or flare-ups and need treatment every now and then.
        In other people, sarcoidosis slowly gets worse over the years and can cause permanent organ damage. Although treatment can help, sarcoidosis may leave scar tissue in the lungs, skin, eyes, or other organs. The scar tissue can affect how the organs work. Treatment usually does not affect scar tissue.

        Changes in sarcoidosis usually occur slowly (e.g., over months). Sarcoidosis does not usually cause sudden illness. However, some symptoms may occur suddenly.

        They include:
        • Disturbed heart rhythms
        • Arthritis in the ankles
        • Eye symptoms.
        In some serious cases in which vital organs are affected, sarcoidosis can result in death.
        Sarcoidosis is not a form of cancer.
        There is no known way to prevent sarcoidosis.
        Sarcoidosis was once thought to be an uncommon condition. It's now known to affect tens of thousands of people throughout the world. Because many people who have sarcoidosis have no symptoms, it's hard to know how many people have the condition.

        Causes of Sarcoidosis

        The cause of sarcoidosis is not known. And, there may be more than one thing that causes it.
        Scientists think that sarcoidosis develops when your immune system responds to something in the environment (e.g., bacteria, viruses, dust, chemicals) or perhaps to your own body tissue (autoimmunity).
        Normally, your immune system defends your body against things that it sees as foreign and harmful. It does this by sending special cells to the organs that are being affected by these things. These cells release chemicals that produce inflammation around the foreign substance or substances to isolate and destroy them.
        In sarcoidosis, this inflammation remains and leads to the development of granulomas or lumps.
        Scientists have not yet identified the specific substance or substances that trigger the immune system response in the first place. They also think that sarcoidosis develops only if you have inherited a certain combination of genes.

        Signs and Symptoms of Sarcoidosis

        Many people who have sarcoidosis have no symptoms. Often, the condition is discovered by accident only because a person has a chest x ray for another reason, such as a pre-employment x ray.
        Some people have very few symptoms, but others have many.
        Symptoms usually depend on which organs the disease affects.

        Lung Symptoms
        • Shortness of breath
        • A dry cough that doesn't bring up phlegm (flem), or mucus
        • Wheezing
        • Pain in the middle of your chest that gets worse when you breathe deeply or cough (rare).
        Lymph Node Symptoms

        Enlarged and sometimes tender lymph nodes—most often those in your neck and chest but sometimes those under your chin, in your arm pits, or in your groin.

        Skin Symptoms

        Various types of bumps, ulcers, or, rarely, flat areas of discolored skin, that appear mostly near your nose, eyes, back, arms, legs, and scalp. They usually itch but aren't painful. They usually last a long time.
        Painful bumps that usually appear on your ankles and shins and can be warm, tender, red or purple-to-red in color, and slightly raised. This is called erythema nodosum (er"i-the'mah nodo'sum). You may have fever and swollen ankles and joint pain along with the bumps. The bumps often are an early sign of sarcoidosis, but they occur in other diseases too. The bumps usually go away in weeks to months, even without treatment.
        Disfiguring skin sores that may affect your nose, nasal passages, cheeks, ears, eyelids, and fingers. This is called lupus pernio (loo'pus per'nio). The sores tend to be ongoing and can return after treatment is over.

        Eye Symptoms
        • Burning, itching, tearing, pain
        • Red eye
        • Sensitivity to light
        • Dryness
        • Floaters (i.e., seeing black spots)
        • Blurred vision
        • Reduced color vision
        • Reduced visual clearness
        • Blindness (in rare cases).
        Heart Symptoms
        • Shortness of breath
        • Swelling in your legs
        • Wheezing
        • Coughing
        • Irregular heartbeat, including palpitations (a fluttering feeling of rapid heartbeats) and skipped beats
        • Sudden loss of consciousness
        • Sudden death.
        Joint and Muscle Symptoms
        • Joint stiffness or swelling—usually in your ankles, feet, and hands.
        • Joint pain.
        • Muscle aches (myalgias).
        • Muscle pain, a mass in a muscle, or muscle weakness.
        • Painful arthritis in your ankles that results from erythema nodosum. It may need treatment but usually clears up in several weeks.
        • Painless arthritis that can last for months or even years. It should be treated.
        Bone Symptoms
        • Painless holes in your bones.
        • Painless swelling, most often in your fingers.
        • Anemia that results from granulomas affecting your bone marrow. This usually should be treated.
        Liver Symptoms
        • Fever
        • Fatigue
        • Itching
        • Pain in the upper right part of your abdomen, under the right ribs
        • Enlarged liver.
        Parotid (pah-rot'id) and Other Salivary Gland Symptoms
        • Swelling, which makes your cheeks look puffy
        • Excessive dryness in your mouth and throat.
        Blood, Urinary Tract, and Kidney Symptoms
        • Increased calcium in your blood or urine, which can lead to painful kidney stones
        • Confusion
        • Increased urination.
        Nervous System Symptoms
        • Headaches.
        • Vision problems.
        • Weakness or numbness of an arm or leg.
        • Coma (rare).
        • Drooping of one side of your face that results from sarcoidosis affecting a facial nerve. This can be confused with Bell's palsy, a disorder that may be caused by a virus.
        • Paralysis of your arms or legs that results from sarcoidosis affecting your spinal cord.
        • Weakness, pain, or a "stinging needles" sensation in areas where many nerves are affected by sarcoidosis.
        Pituitary (pi-tu'i-tar"e) Gland Symptoms (Rare)
        • Headaches
        • Vision problems
        • Weakness or numbness of an arm or leg
        • Coma (rare).
        Other Symptoms
        • Nasal obstruction or frequent bouts of sinusitis.
        • Enlarged spleen, which leads to a decrease in platelets in your blood and pain in your upper left abdomen. Platelets are needed to help your blood clot.
        Sarcoidosis may also cause more general symptoms, including:
        • Uneasiness, feeling sick (malaise), an overall feeling of ill health
        • Tiredness, fatigue, weakness
        • Loss of appetite or weight
        • Fever
        • Night sweats
        • Sleep problems
        These general symptoms are often caused by other conditions. If you have these general symptoms but don't have symptoms from affected organs, you probably do not have sarcoidosis.

        Sarcoidosis - Diagnosis

        The doctor will find out if you have sarcoidosis 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 your organs
        • Rule out other causes of your symptoms
        • Determine the amount of damage to any of your affected organs
        • Determine whether you need treatment.
            Medical History

            Your doctor will ask you for a detailed medical history. He or she will want to know about any family history of sarcoidosis and what jobs you have had that may have increased your chances of getting sarcoidosis.
            Your doctor may also ask whether you have 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 your lungs that look like the granulomas that are caused by sarcoidosis but are actually signs of other conditions.

            Physical Exam

            Your doctor will look for symptoms of sarcoidosis, such as red bumps on your skin; swollen lymph nodes; an enlarged liver, spleen, or salivary gland(s); or redness in your eyes. He or she will also listen for abnormal lung sounds or heart rhythm. Your doctor also will check for other likely causes of your 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. Your 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 your heart and lungs. It may show granulomas or enlarged lymph nodes in your 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 your lungs
            Stage 3: Chest x ray showing shadows in your 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 your symptoms and lung function are. But there are a lot of differences among people. If your x-ray results show Stages 0, 1, 2, or 3, you may not have symptoms or need treatment, and you 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 your blood. They also will show whether there are increases in your calcium levels or changes in your liver, kidney, and bone marrow that can occur with sarcoidosis.
            Lung Function Tests. One test uses a spirometer (spi-rom'e-ter), a device that measures how much and how fast you can blow air out of your lungs after taking a deep breath. If there is a lot of inflammation and/or scarring in your lungs, you will not be able to move normal amounts of air in and out.
            Another test measures how much air your lungs can hold. Sarcoidosis can cause your 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 your heart is affected by sarcoidosis.
            Pulse Oximetry. A small clip attached to your finger tip can show how well your heart and lungs are moving oxygen into your blood.
            Arterial Blood Gas Test. This test is more accurate than pulse oximetry for checking the level of oxygen in your bloodstream. Blood is taken from an artery (usually in your wrist). It is then analyzed for its oxygen and carbon dioxide levels.
            Fiberoptic Bronchoscopy. In this procedure, your doctor inserts a long, narrow, flexible tube with a light on the end through your nose or mouth into your lungs to look at your airways. This tube is called a bronchoscope. You most likely would have this procedure as an outpatient in a hospital under local anesthesia.
            Bronchoalveolar Lavage (brong"ko-al-ve'o-lar lah-vaje') (BAL). During bronchoscopy, your doctor may inject a small amount of salt water (saline) through the bronchoscope into your lungs. This fluid washes the lungs and helps bring up cells and other material from the air sacs deep in your lungs where the inflammation usually starts to develop. The cells and fluid are then examined for signs of inflammation.
            Biopsy. Your doctor may take a small sample of tissue from one of your affected organs. For example, when breathing tests or chest x rays show signs of sarcoidosis in your lungs, your doctor may do a fiberoptic bronchoscopy biopsy. This will help confirm the diagnosis. Your doctor inserts a tiny forceps through the bronchoscope to collect tissue that will be examined. Because the granulomas may be spread out in your lungs, the bronchoscope may miss some of them.
            Biopsies of your skin and liver are sometimes done to detect granulomas in these organs.
            You 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.
            Computerized Tomography (CT) Scan. This test provides a computer-generated image of your organs that has more detail than a regular chest x ray. It can provide more information about how sarcoidosis has affected an organ.

            Your doctor may do a CT scan to:

            Obtain more information about how much of your lung is affected by sarcoidosis.
            Detect sarcoidosis in your liver. A CT scan of your abdomen will show if your 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 your organs that your doctor doesn't want to risk doing a biopsy on. For example, an MR scan can be used to diagnose sarcoidosis in your brain, spinal cord, nerves, or heart.

            Thallium and Gallium Scans. These scans are often done to see if sarcoidosis is affecting your heart. Thallium and gallium are radioactive elements. Your doctor injects a small amount of one of them into a vein in your arm. The elements collect at places in your body where there is inflammation. After awhile, your body is scanned for radioactivity. Increased radioactivity at any place may be a sign of inflammation.
            This test gives information on the tissue in your body that has been affected by sarcoidosis and the amount of damage to it. But since this test shows all inflammation in your 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 your 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.

            Treatment - Sarcoidosis

            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 you may have ongoing symptoms.

            Your treatment depends on:
            • What symptoms you have
            • How severe your symptoms are
            • Whether any of your vital organs (e.g., your lungs, eyes, heart, or brain) are affected
            • How the organ is affected.
            Some organs must be treated, regardless of your symptoms. Others may not need to be treated. Usually, if you don't have symptoms, you don't need treatment, and you 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.

            Treatments for Specific Types of Sarcoidosis

            Eyes. Sarcoidosis in your eyes almost always responds well to treatment. Often, the only treatment you need is eye drops containing corticosteroids. You should have yearly eye exams, even if you think your eyes are doing well.
            Spleen. Sarcoidosis can cause your spleen to become larger. This can lead to a decrease in your red or white blood cells or platelets and increase your chances of infection and blood clotting disorders. Treatment is usually given to increase the number of your blood cells and ease your pain. In rare cases, your spleen may need to be removed.
            Liver. Sarcoidosis rarely causes permanent liver damage. As a result, your liver usually isn't treated unless it's causing major symptoms (e.g., fever). Drug treatment can usually reduce granulomas in your 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. You should check with your doctor to find out how often you need these tests.
            Nervous system. Sarcoidosis in your nervous system (neurosarcoidosis) usually needs treatment. Nerve tissue heals slowly, so treatment often takes a long time. You may need to take several drugs at high doses.
            Erythema nodosum. These painful bumps on your shins often go away in weeks to months without treatment. Your doctor probably will not give you medication unless you are very uncomfortable. Aspirin or ibuprofen, an anti-inflammatory drug that you can buy without a prescription, will usually help.
            Heart. Sarcoidosis in your heart is usually treated with steroids. You may also be given heart drugs to improve your heart's pumping ability or to correct a disturbed heart rhythm.
            If you have a severe heart rhythm disturbance, your doctor may prescribe one of these devices:
            • A cardiac pacemaker, a small battery-operated device, often put under your skin, that regulates your heartbeat
            • A defibrillator, an implanted device that shocks your heart into a normal heartbeat or, if it has stopped, into beating.
            If your 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 your face, especially your cheeks and nose, can be distressing because it's in a very visible area. It often occurs with loss of your 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, your doctor may find it hard to tell whether the treatment is helping.

 

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