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Forrás: http://www.medicinenet.com/sarcoidosis/index.htm
1.What is sarcoidosis?
Sarcoidosis is a disease that results from inflammation of tissues of the
body. It can appear in almost any body organ, but most often starts in the
lungs or lymph nodes.
The cause of sarcoidosis is unknown. 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.
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).
Shortness of breath (dyspnea) and a cough that won't go away can be among
the first symptoms of sarcoidosis. But sarcoidosis can also show up
suddenly with the appearance of skin rashes. Red bumps (erythema nodosum)
on the face, arms, or shins, and inflammation of the eyes are also common
symptoms.
It is not unusual, however, for sarcoidosis symptoms to be more general.
Weight loss, fatigue, night sweats, fever, or just an overall feeling of
ill health can also be clues to the disease.
2.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 scarring 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 in certain
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 40'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.
3. What sarcoidosis is not?
Much about sarcoidosis remains unknown. Nevertheless, if you have the
disease, you can be reassured about several things. Sarcoidosis is usually
not crippling. It often goes away by itself, with most cases healing in 24
to 36 months. Even when sarcoidosis lasts longer, most patients can go
about their lives as usual. Sarcoidosis is not a cancer. It is not
contagious, and your friends and family will not catch it from you.
Although it can occur in families, there is no evidence that sarcoidosis
is passed from parents to children.
4. Some things we don't know about sarcoidosis
Sarcoidosis is currently thought to be associated with an abnormal immune
response. Whether a foreign substance is the trigger is a chemical, drug,
virus, or some other substance; how exactly the immune disturbance is
caused are not known.
In general, sarcoidosis appears briefly and heals naturally in 60 to 70
percent of the cases, often without the patient knowing or doing anything
about it. From 20 to 30 percent of sarcoidosis patients are left with some
permanent lung damage. In 10 to 15 percent 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 to 10 percent 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
of feeling poorly 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 in nature, for example,
tiredness, sluggishness, coughing, and a general feeling of ill health.
5. How is sarcoidosis diagnosed?
Preliminary diagnosis of sarcoidosis is based on the patient's medical
history, routine tests, a physical examination, and a chest x- ray.
The doctor confirms the diagnosis of sarcoidosis by eliminating other
diseases with similar features. These include such granulomatous diseases
as berylliosis (a disease resulting from exposure to beryllium metal),
tuberculosis, farmer's lung disease (hypersensitivity pneumonitis), fungal
infections, rheumatoid arthritis, rheumatic fever, and cancer of the lymph
nodes (lymphoma).
6. What are some signs and symptoms that suggest possible 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 detect 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 lungs are usually the first site involved in sarcoidosis. Indeed,
about 9 out of 10 sarcoidosis patients have some type of lung problem,
with nearly one-third of these patients showing some respiratory
symptoms-usually coughing, either dry or with phlegm, and dyspnea.
Occasionally, patients have chest pain and a feeling of tightness in the
chest.
It is thought that sarcoidosis of the lungs begins with inflammation of
the alveoli (alveolitis), the tiny sac like air spaces in the lungs where
carbon dioxide and oxygen are exchanged. Alveolitis either clears up
spontaneously or leads to granuloma formation. Eventually fibrosis can
form, causing the lung to stiffen and making breathing even more difficult.
Eye disease occurs in about 20 to 30 percent of patients with sarcoidosis,
particularly in children who get the disease. Almost any part of the eye
can be affected-the membranes of the eyelids, cornea, outer coat of the
eyeball (sclera), retina, and lens. The eye involvement can start with no
symptoms at all or with reddening or watery eyes. In a few cases,
cataracts, glaucoma, and blindness can result.
The skin is affected in about 20 percent of sarcoidosis patients. Skin
sarcoidosis is usually marked by small, raised patches on the face.
Occasionally the patches are purplish in color and larger. Patches can
also appear on limbs, face, and buttocks.
Other symptoms include erythema nodosum, mostly on the legs and often
accompanied by arthritis in the ankles, elbows, wrists, and hands.
Erythema nodosum usually goes away, but other skin problems can persist.
Occasionally (1 to 5 percent), sarcoidosis can lead to nervous system
problems. For example, sarcoid granulomas can appear in the brain, spinal
cord, and facial and optic nerves. Facial paralysis and other symptoms of
nerve damage call for prompt treatment with medications such as high doses
of cortisone (see below).
Symptoms can appear suddenly, and then disappear. Sometimes, however, they
can continue over a lifetime.
7.What do laboratory tests show?
No single test can be relied on for a correct diagnosis of sarcoidosis.
X-rays and blood tests are usually the first procedures the doctor will
order. Pulmonary function tests often provide clues to diagnosis. Other
tests may also be used, some more often than others.
Many of the tests that the doctor calls on to help diagnose sarcoidosis
can also help the doctor follow the progress of the disease and determine
whether the sarcoidosis is getting better worse.
CHEST X-RAY
The chest X-ray is often helpful to give the doctor a picture of the
lungs, heart, as well as the surrounding tissues containing lymph nodes,
where infection- fighting white blood cells form, can give the first
indication of sarcoidosis. For example, a swelling of the lymph glands
between the two lungs can show up on an x-ray. An x-ray can also show
which areas of the lung are affected.
PULMONARY FUNCTION TEST
By performing a variety of tests called pulmonary function tests (PFT),
the doctor can find out how well the lungs are doing their job of
expanding and exchanging oxygen and carbon dioxide with the blood. The
lungs of sarcoidosis patients cannot handle these tasks as well as they
should; this is because granulomas and fibrosis of lung tissue decrease
lung capacity and disturb the normal flow of gases between the lungs and
the blood. One PFT procedure calls for the patient to breathe into a
machine, called a spirometer. It is a mechanical device that records
changes in the lung size as air is inhaled and exhaled, as well as the
time it takes the patient to do this.
BLOOD TEST
Blood analyses can evaluate the number and types of blood cells in the
body and how well the cells are functioning. They can also measure the
levels of various blood proteins known to be involved in immunological
activities, and they can show increases in serum calcium levels and
abnormal liver function that often accompany sarcoidosis.
Blood tests can measure a blood substance called angiotensin - converting
enzyme (ACE). Because the cells that make up granulomas secrete large
amounts of ACE, the enzyme levels are often high in patients with
sarcoidosis. ACE levels, however, are not always high in sarcoidosis
patients, and increased ACE levels can also show up in other illnesses.
BRONCHOALVEOLAR LAVAGE
This uses an instrument called a bronchoscope-a long, narrow tube with a
light at the end- to wash out, or lavage, cells and other materials from
inside the lungs. This wash fluid is then examined for the amount of
various cells and other substances that reflect inflammation and immune
activity in the lungs. A high number of white blood cells in this fluid
usually indicate an inflammation in the lungs.
BIOPSY
Microscopic examination of specimens of lung tissue obtained with a
bronchoscope, or of specimens of other tissues, can tell a doctor where
granulomas have formed in the body.
GALLIUM SCANNING
In this procedure, the doctor injects the radioactive chemical element
gallium-67 into the patient's vein. The gallium collects at places in the
body affected by sarcoidosis and other inflammatory conditions. Two days
after the injection, the body is scanned for radioactivity. Increases in
gallium uptake at any site in the body indicate that inflammatory activity
has developed at the site and also give an idea of which tissue, and how
much tissue, has been affected. However, since any type of inflammation
causes gallium uptake, a positive gallium scan does not necessarily mean
that the patient has sarcoidosis.
KVEIM TEST
This test involves injecting a standardized preparation of sarcoid tissue
material into the skin. On the one hand, a unique lump formed at the point
of injection is considered positive for sarcoidosis. On the other hand,
the test result is not always positive even if the patient has sarcoidosis.
The Kveim test is not used often in the United States because no test
material has been approved for sale by the U.S. Food and Drug
Administration. However, a few hospitals and clinics may have some
standardized test preparation prepared privately for their own use.
SLIT-LAMP EXAMINATION
An instrument called a slit lamp, which permits examination of the inside
of the eye, can be used to detect silent damage from sarcoidosis.
8.How is sarcoidosis treated?
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, corticosteroid 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 usually 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
corticosteroid.
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.
Besides corticosteroid, 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 have 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. More recently, thalidomide has been used successfully in a
limited number of patients and seemed to improve lung function and heal
skin lesions.
There are many unanswered questions about sarcoidosis. Identifying the
agent that causes the illness, along with the inflammatory mechanisms that
set the stage for the alveolitis, granuloma formation, and fibrosis that
characterized the disease, is the major aim of researchers of sarcoidosis.
Development of reliable methods of diagnosis, treatment, and eventually,
the prevention of sarcoidosis is the ultimate goal.
Originally, scientists thought that sarcoidosis was caused by an acquired
state of immunological inertness (anergy). This notion was revised a few
years ago, when the technique of bronchoalveolar lavage provided access to
a vast array of cells and cell-derived mediators operating in the lungs of
sarcoidosis patients. Sarcoidosis is now believed to be associated with a
complex mix of immunological disturbances involving simultaneous
activation, as well as depression, of certain immunological functions.
Immunological studies on sarcoidosis patients show that many of the immune
functions associated with thymus-derived white blood cells, called
T-lymphocytes or T-cells, are depressed. The depression of this cellular
component of systemic immune response is expressed in the inability of the
patients to evoke a delayed hypersensitivity skin reaction (a positive
skin test), when tested by the appropriate foreign substances, or antigen,
underneath the skin.
In addition, the blood of sarcoidosis patients contains a reduced number
of T-cells. These T-cells do not seem capable of responding normally when
treated with substances known to stimulate the growth of
laboratory-cultured T-cells. Neither do they produce their normal
complement of immunological mediators, cytokines, through which the cells
modify the behavior of other cells.
In contrast to the depression of the cellular immune response, humoral
immune response of sarcoidosis patients is elevated. The humoral immune
response is reflected by the production of circulating antibodies against
a variety of exogenous antigens, including common viruses. This humoral
component of systemic immune response is mediated by another class of
lymphocytes known as B-lymphocytes, or B- cells, because they originate in
the bone marrow.
In another indication of heightened humoral response, sarcoidosis patients
seem prone to develop auto-antibodies (antibodies against endogenous
antigens) similar to rheumatoid factors.
With access to the cells and cell products in the lung tissue compartments
through the bronchoalveolar technique, it also has become possible for
researchers to complement the above investigations at the blood level with
analysis of local inflammatory and immune events in the lungs. In contrast
to what is seen at the systemic level, the cellular immune response in the
lungs seems to be heightened rather than depressed.
The heightened cellular immune response in the diseased tissue is
characterized by significant increases in activated T- lymphocytes with
certain characteristic cell-surface antigens, as well as in activated
alveolar macrophage. This pronounced, localized cellular response is also
accompanied by the appearance in the lung of an array of mediators that
are thought to contribute to the disease process; these include
interleukin-1, interleukin-2, B-cell growth factor, B-cell differentiation
factor, fibroblast growth factor and fibronectin. Because a number of lung
diseases follow respiratory tract infections, ascertaining whether a virus
can be implicated in the events leading to sarcoidosis remains an
important area of research.
Some recent observations seem to provide suggestive leads on this
question. In these studies, the genes of cytomegalovirus (CMV), a common
disease-causing virus, were introduced into lymphocytes, and the
expression of the viral genes was studied. It was found that the viral
genes were expressed both during acute infection of the cells and when the
virus was not replicating in the cells. However, this expression seemed to
take place only when the T-cells were activated by some injurious event.
In addition, the product of a CMV gene was found capable of activating the
gene in alveolar macrophage responsible for the production of
interleukin-1. Since interleukin-1 levels are found to increase in
alveolar macrophage from patients with sarcoidosis, this suggests that
certain viral genes can enhance the production of inflammatory components
associated with sarcoidosis. Whether these findings implicate viral
infections in the disease process in sarcoidosis is unclear.
Currently, thalidomide is being studied as a treatment for sarcoidosis.
Future research with viral models may provide clues to the molecular
mechanisms that trigger alterations in white blood cell (lymphocyte and
macrophage) regulation leading to sarcoidosis.
9. 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. It should be noted
that most people with sarcoidosis lead normal lives.
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, 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 specialist, and how to
improve one's self-image.
Information above was contributed, in part, by the generosity of National
Institutes of Health.
Sarcoidosis At A Glance
Sarcoidosis is a disease that causes inflammation of body tissues.
The cause of sarcoidosis is not known.
Sarcoidosis commonly affects the lungs and skin.
Diagnosis is suggested by the patient's medical history, routine tests, a
physical examination, and a chest x- ray.
Many patients with sarcoidosis require no treatment.
For more severe disease, cortisone-related medications are used.
Additional Information on Sarcoidosis is available from a number of
sources:
CURRENT SARCOIDOSIS RESEARCH AND CLINICAL TRIALS
National Heart, Lung, and Blood Institute (NHLBI)
Division of Lung Diseases
5333 Westward Avenue
Room 6A16
Bethesda, MD 20892
