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SCLERODERMA (Systemic Sclerosis)
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Scleroderma, also known as systemic sclerosis, is a chronic disease that
causes skin thickening and tightening, and can involve fibrosis and other
types of damage to internal body organs. This condition, thought to be
an autoimmune disease, affects both adults and children, most commonly
adult women. While effective treatments are available for some manifestations
of the disease, scleroderma is not yet curable.
Fast Facts
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Scleroderma is a relatively uncommon problem affecting
only 200 to 300 people per million in the U.S. Some 12 to 20 new
cases per million are diagnosed annually.
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Although the underlying
cause of scleroderma is not known, promising research is shedding
new light on the relationship between the immune system and
scleroderma.
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Medicines traditionally used to treat other autoimmune
diseases – such as rheumatoid
arthritis and lupus – often
have little effect on scleroderma.
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Increasingly, different
aspects of scleroderma are becoming treatable.
What scleroderma is
There are actually several types of scleroderma and related diseases
with complications ranging from minor to life-threatening. Therefore,
the terminology describing the various forms of scleroderma can be confusing.
The two broad categories are a) “localized scleroderma” which indicates
distinct skin lesions and b) "systemic sclerosis" (scleroderma) which
indicates more uniform skin involvement and the potential for internal
organ disease. Other diseases that also affect the skin may be confused
with scleroderma including scleredema, scleromyxedema, eosinophilic fasciitis,
and nephrogenic fibrosing dermopathy.
Localized Scleroderma
Each of the several forms of localized scleroderma is a disorder of skin
and sometimes the deeper tissues. The most visible effects of the disease
are skin lesions often referred to as morphea. In some
cases, this localized scleroderma is just a cosmetic problem. However,
for those with more widespread skin lesions over their body (generalized
morphea or linear scleroderma), in which
thickness and scarring spreads down to the underlying structures including
fat, muscle and, on rare occasion, bone, the disease can be more serious.
Another pattern of localized scleroderma called en coup de sabre can
particularly involve the face. Localized scleroderma including deep and
extensive lesions can prevent normal motion of joints and interfere with
daily activities. However, localized scleroderma does not affect internal
organs of the body.
Systemic Sclerosis (Scleroderma)
Systemic scleroderma is divided into two sub-sets: a) “limited” cutaneous
systemic sclerosis (scleroderma) in which skin involvement is limited
to forearms, hands, legs, feet, and face; and b) “diffuse” cutaneous systemic
sclerosis (scleroderma) which can affect the skin over almost any body
area. The skin changes are caused by an increase of collagen and other
proteins that lead to thickening and hardening of the skin. This accumulation
also can occur in other organs including the lungs, the heart and the
gastrointestinal tract. Internal organs involvement can include kidneys,
lungs, heart, gastrointestinal tract, and the vascular system.
The earliest changes in the body in systemic scleroderma are:
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Activation of the immune system which may cause tissue
damage, particularly in the lungs, as well as inflammation and swelling
in the skin. When the disorder affects the immune system, causing
injury to blood vessels and multiple organs, it becomes systemic sclerosis.
The extent of skin and internal organ involvement dictates whether
the diagnosis is limited cutaneous systemic sclerosis or diffuse cutaneous
systemic sclerosis.
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Damage of blood vessels. For instance, Raynaud's phenomenon,
an abnormal reaction of blood vessels to the cold, is caused by
structural damage of vessels in the hands, as well as elsewhere in
the body.
These changes then lead to fibrosis, or scarring, in multiple organs.
What causes scleroderma
The cause of scleroderma is not yet proven. Genetic factors appear to
predispose patients to the disease, but whether scleroderma is the result
of some combination of genetic factors and other exposures is unknown.
For instance, some data suggests that exposure to industrial solvents
or an environmental agent may play a role in predisposing to scleroderma.
Scleroderma-like syndromes also have been clearly linked to agents as
varied as contaminated rapeseed oil, polyvinylchloride, and a contaminant
in one preparation of L-tryptophan. That said, the vast majority of patients
with scleroderma do not have a history of exposure to any suspicious toxins.
Who gets scleroderma
Scleroderma is a relatively rare illness affecting only 75,000 – 100,000
people in the United States. Of these, 75% percent are women usually diagnosed
between the ages of 30 and 50 years. Twins and family members of patients
with scleroderma or other autoimmune connective tissue diseases, such
as systemic lupus erythematosus,
appear to be at a slightly increased risk. Children can get scleroderma,
although the pattern and extent of disease may be different in children.
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| This image shows diffuse soft-tissue swelling of the digits,
characteristic of the early edematous phase of scleroderma. |
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How scleroderma is diagnosed
A scleroderma diagnosis is based primarily on a combination of a person's
description of symptoms (history) and physical examination findings. Laboratory
tests and x-rays may help in evaluating a patient with suspected scleroderma
or find that someone actually has another disease, but no one test makes
the diagnosis certain. For instance, blood tests for autoantibodies are
often used in making the diagnosis, but the presence or absence of these
antibodies is not, in and of itself, conclusive.
Scleroderma is diagnosed as the result of an unusual thickening or swelling
of the skin, especially on the hands and extending up the arms, as well
as dilated blood vessels in the face, hands, nail folds and elsewhere.
Some patients develop cutaneous deposits of calcium (calcinosis), and
characteristic involvement of other organs including the lungs, muscle
inflammation, and the kidneys.
Almost all (more than 90%) of people with scleroderma also have Raynaud's
phenomenon. Many people with scleroderma also have additional heartburn
and difficulty swallowing. However, since Raynaud's phenomenon and heartburn
can be caused by many other conditions, they are not specific disease indicators.
How scleroderma is treated
Unfortunately, while some treatments have proven effective in treating
the disorder, scleroderma is not yet curable. Much research has gone into
addressing the various manifestations of the disease, but no drug has
been found that can arrest or reverse the skin thickening that is the
hallmark of disease.
For patients with Raynaud's phenomenon, a variety of drugs that dilate
blood vessels (“vasodilators”) such as calcium channel blockers or alpha
receptor blockers are available. Several newer vasodilators are now being
considered for treatment of Raynaud's phenomenon and digital ulceration
in scleroderma, and we await more definitive data on these drugs' effectiveness.
Keeping one's fingers and toes warm and adequately protected from exposure
to cold, as well as keeping one's core body (trunk) warm has proven effective
in preventing attacks and subsequent damage. Protective measures to avoid
trauma to the finger tips are also important.
Similarly, there are drugs that can alleviate the symptoms of heartburn
and prevent damage to the esophagus, especially “proton pump inhibitors.” These
drugs, coupled with physical measures such as elevating the head of the
patient's bed, can make a difference. Still other
drugs can improve bowel function.
For those with scleroderma kidney disease, early recognition is critical.
Therefore, patients with diffuse scleroderma should monitor their blood
pressure several times a week. Early intervention with a type of blood
pressure medication called angiotensin converting enzyme inhibitors (ACE
inhibitors) has been shown to be extremely effective in treating early
scleroderma renal involvement and helping to prevent renal damage. The
use of these drugs has been a major advance for patients with scleroderma.
There are two main types of lung disease that some patients with scleroderma
may develop: interstitial lung disease (inflammation and scarring) and
pulmonary hypertension (increased pressure in the arteries of the lung).
Many experts in the field believe that cyclophosphamide is effective
in treating the interstitial lung disease in scleroderma, and clinical
trials are underway assessing the effectiveness of this drug and other
agents for this condition. Pulmonary hypertension can occur in both
the limited and diffuse forms of scleroderma. A number of agents have
become available in the last 10 years to treat pulmonary hypertension,
including prostacyclin-like drugs (epoprostenol, treprostinol) and
the endothelin receptor antagonists (bosentan). These treatments,
and those being tested in current research trials, may provide significant
benefit to patients with lung disease in scleroderma.
For patients with weakness and muscle disease associated with scleroderma,
glucocorticoids (such as prednisone) and/or immunosuppressive medications
may be effective treatments.
Much research is ongoing into new treatments for scleroderma. Patients
and their families should know that experts remain optimistic and work
towards a cure will continue.
Broader heatlh impact of scleroderma
Scleroderma can involve almost every organ system including the skin,
vascular system, lungs, gastrointestinal tract, heart, joints, muscles,
etc. Further, this disease varies greatly from patient to patient and
can dramatically impact someone's life. Patients should receive care from
a specialist (and often a team of specialists) with expertise in the management
of scleroderma. Patients also benefit from support from family and friends,
and learn to live with the disease to maintain a good quality of life.
Living with scleroderma
Living with this condition requires mental and physical changes. First,
there is the adjustment to an altered appearance and self-image from the
obvious physical feature changes associated with disorder. On a physical
level, intestinal involvement may require changes in diet with frequent
small meals rather than the usual large ones. Keeping the skin well lubricated
and using appropriate precaution during activities conducive to digital
injury (gardening, cooking, opening envelopes) is equally important. Dressing
appropriately to maintain body warmth and protect from peripheral blood
vessel disease means layering clothing to the point of warmth as well
as adjusting surrounding temperatures where possible. Unfortunately, moving
to a warmer climate does not necessarily lead to dramatic improvement
perhaps due to use of air conditioning. Exercise and/or physical therapy
is also important to maintain mobility of joints, which are affected by
scarring of the tissues in and around the joints.
As always, the psychological
component to living with chronic disease,
particularly those that are uncommon and incurable, should also receive
attention.
Points to Remember
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Scleroderma differs from person to person, but can
be a very serious disease.
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Some people will find that
physical measures and medications will help control Raynaud's
phenomenon and heartburn.
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Effective treatments are available
even for patients with severe disease, including acute kidney
disease, pulmonary hypertension, and lung inflammation.
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The
key is to recognize organ involvement early and treat it before
irreversible organ damage occurs.
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Patients with scleroderma
should be seen by physicians with specialized expertise in the care
of this complex disease.
To find a rheumatologist
For more information about rheumatologists, click
here.
For a listing of rheumatologists in your area, click
here.
For more information
The American College of Rheumatology has compiled this list to give you
a starting point for your own additional research. The ACR does not endorse
or maintain these Web sites, and is not responsible for any information
or claims provided on them. It is always best to talk with your rheumatologist
for more information and before making any decisions about your care.
The Scleroderma Foundation
www.scleroderma.org
International Scleroderma Network
www.sclero.org
Scleroderma Clinical Trials Consortium
www.sctc-online.org
Scleroderma Research Foundation
www.sclerodermaresearch.org
The Arthritis Foundation
www.arthritis.org
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Information Clearinghouse
www.niams.nih.gov
Updated June 2005
Written by
Joseph H. Korn, MD and Peter A. Merkel, MD, MPH, and reviewed by the American
College of Rheumatology.
