Disease, Illness and Condition Library


    Sarcoidosis

    Sarcoidosis is a disease in which abnormal collections of
    inflammatory cells (granulomas) form in many organs of
    the body.

    The cause of sarcoidosis is current unknown. It may result from an infection
    or from an abnormal response of the immune system. Inherited factors may
    be important. Sarcoidosis develops primarily between the ages of 20 and 40
    and is most common among Swedes and American blacks, although it can
    occur in anyone.

    Sarcoidosis is characterized by the presence of collections of inflammatory
    cells (granulomas). The disease is chiefly one of the lungs, but granulomas
    also form in the lymph nodes, lungs, liver, eyes, and skin, and less often in
    the spleen, bones, joints, skeletal muscles, kidneys, heart, and nervous system.
    The granulomas may eventually disappear completely or become scar tissue.

    Symptoms

    Many people with this condition have no symptoms, and the disease is
    discovered during a chest x-ray that is taken for other reasons. Most people
    develop minor symptoms that do not progress. Serious symptoms are a rare
    occurrence.

    The symptoms of sarcoidosis differ greatly according to the site and extent
    of the disease. Fever, fatigue, vague chest pain, a feeling of illness (malaise),
    weight loss, and aching joints may be the first indications of a problem in about
    a 1 out of every 3 patients. Enlarged lymph nodes are common, but rarely
    cause symptoms. Fever and night sweats may recur throughout the illness.

    The organ most affected by sarcoidosis is the lung. Enlarged lymph nodes
    at the place where the lungs meet the heart or to the right of the windpipe
    (trachea) may be seen on a chest x-ray. Sarcoidosis produces inflammation
    in the lungs that may in time lead to scarring and the formation of cysts, which
    can cause coughing and shortness of breath. Fortunately, such progressive
    scarring occurs infrequently. Severe lung disease can eventually weaken
    the right side of the heart (cor pulmonale).

    The skin is frequently affected by sarcoidosis. In Europeans, sarcoidosis often
    starts as raised, tender, red lumps, usually on the shins (erythema nodosum),
    accompanied by a fever and joint pain, but this is less common in the United
    States. Prolonged sarcoidosis may lead to the formation of flat patches
    (plaques), raised patches, or lumps just under the skin with discoloration
    of the nose, checks, lips, and ears (lupus pernio). Lupus pernio is most
    commonly seen in black women.

    Approximately 7 out of every 10 people with sarcoidosis have granulomas
    in their liver. These granulomas often produce no symptoms, and the liver
    seems to function normally. Fewer that 1 out of every 10 people with
    sarcoidosis have an enlarged liver. Jaundice caused by liver malfunction
    is uncommon. The spleen also enlarges.

    Less than 2 out of every 10 people with sarcoidosis have eye related problems.
    Inflammation of certain internal eye structures (uveitis) makes the eyes read
    and painful and interferes with vision. Inflammation that persists for a long time
    may block fluid from draining from the eye, causing glaucoma, which can lead
    to blindness. Granulomas may form in the conjunctiva (the membrane over the
    eyeball and inside the eyelids). Such granulomas often do not cause symptoms,
    but the conjunctiva is an easily reached site from which a doctor can take tissue
    samples for examination. Some people with sarcoidosis complain of dry, sore,
    and red eyes, probably caused by sluggish tear glands that have been
    affected by the disease and no longer produce enough tears to keep
    the eyes lubricated.

    Granulomas that form in the heart may cause chest pain (angina) or heart
    failure. Those granulomas that form near the heart’s electrical conducting
    system can trigger potentially fatal irregularities in the heartbeat.

    Inflammation can cause widespread pain in the joints. The joints in the hands
    and feet are most commonly affected. Cysts form in the bones and can make
    nearby joints swollen and tender.

    Sarcoidosis can affect the cranial nerves (nerves to the head), causing double
    vision and making one side of the face sag. If the pituitary gland or the bones
    surrounding it are affected, diabetes insipidus may result. When the pituitary
    gland stops producing vasopressin, a hormone vital for the kidneys to
    concentrate urine, it often leads to frequent urination and excessive
    amounts of urine produced.

    Sarcoidosis can cause high levels of calcium to accumulate in the blood and
    urine. These high levels occur because sarcoid granulomas produce activated
    vitamin D, which enhances calcium absorption from the intestine. High blood
    calcium levels lead to a loss of appetite, nausea, vomiting, thirst, and excessive
    urine production. If present for a long time, high blood calcium levels may lead
    to the formation of kidney stones or calcium deposits in the kidney and,
    eventually, to kidney failure.

    Diagnosis

    Doctors most often diagnose sarcoidosis by observing its distinctive changes,
    including enlarged lymph nodes and a hazy, ground glass appearance of lung
    tissue on a chest x-ray or computed tomography (CT). When further testing is
    needed, microscopic examination of a tissue specimen showing inflammation
    and granulomas confirms the diagnosis. Bronchoscopy with transbronchial
    lung biopsy is the best procedure for most people. Other possible sources
    of tissue specimens are skin abnormalities, enlarged lymph nodes close to
    the skin, and granulomas on the conjunctiva. Examination of a specimen
    from one of these tissues is accurate in 87% of cases. A liver biopsy is rarely
    needed even if there is evidence that the liver is affected.

    Tuberculosis can cause many changes similar to those caused by sarcoidosis.
    Therefore, a doctor also performs a tuberculin skin test (and sometimes a lung
    biopsy) to make sure the problem is not tuberculosis.

    Other methods that can help a doctor diagnose sarcoidosis or assess its
    severity include measuring the level of angiotensin converting enzyme (ACE)
    in the blood, irrigating the lungs and examining the fluid, and using a whole
    body gallium scan. In many people with sarcoidosis, the level of angiotensin
    converting enzyme in the blood is high. The washings from a lung with active
    sarcoidosis contain a large number of lymphocytes, but this is not unique to
    sarcoidosis. Because gallium scanning shows abnormal patterns in the lungs
    or lymph nodes of a person with sarcoidosis in those places, this test is
    sometimes used when the diagnosis is unclear.

    In people with lung scarring, pulmonary function test may show that the
    amount of air the lung can hold is below normal. Blood tests may reveal
    a low number of white blood cells or platelets.  Immunoglobulin levels are
    often high, especially in blacks. The levels of liver enzymes, particularly
    alkaline phosphatase, may be high if the liver is affected.

    Prognosis

    Sarcoidosis improves or clears up spontaneously in nearly two out of every
    three people with lung sarcoidosis Even large lymph nodes in the chest and
    extensive lung inflammation may disappear in a few months or years. The
    course can be chronic or progressive in 10 to 30% of people. Serious involvement
    outside of the chest (for example, of the heart, nervous system, eyes, or liver)
    occurs in 4 to 7% of people at the beginning of their illness; the chance of
    involvement outside of the chest increases if lung disease persists.

    People who have sarcoidois that has not spread beyond the chest do better
    than those who also have sarcoidosis elsewhere in the body. People with
    enlarged lymph nodes in the chest but no sign of lung disease have a very
    prognosis.  Those whose disease began with erythema nodosum have the
    best prognosis. About 50% of people who once had sarcoidosis have relapses.

    One out of every ten people with sarcoidosis develops a serious disability
    from damage to the eyes, respiratory system, or elsewhere. Lung scarring
    leading to respiratory failure, and cor pulmonale is the most common cause
    of death, followed by bleeding from lung infection caused by the fungus
    Aspergillus. This fungus tends to grow in the lung cysts that develop in
    patients with progressive, chronic lung sarcoidosis.

    Treatment

    Most people with sarcoidosis do not require treatment. Corticosteroids are
    given to suppress severe symptoms such as shortness of breath, joint pain,
    and fever. These drugs also are given if tests show high levels of calcium in
    the blood; if the heart, liver, or nervous system is affected; if the sarcoidosis
    causes disfiguring skin lesions or eye disease that corticosteroid eye drops
    fail to cure; or if lung disease continues to worsen. People who have no
    symptoms should not take corticosteroids. Although corticosteroids control
    symptoms well, they do not prevent lung scarring over the years. About 10%
    of those who need treatment fail to respond to corticosteroids and are
    switched to cholrambucil or methotrexate, which may be very effective.
    Hydroxychloroquine is sometimes helpful in eliminating disfiguring skin lesions.

    The success of treatment can be monitored with chest x-rays, CT, pulmonary
    function tests, and measurements of calcium or angiotensin converting enxyme
    levels in the blood. These tests are repeated regularly to detect relapses after
    treatment stops.
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