JDMS Frequently Asked Questions.
Juvenile Dermatomyositis (JDMS) is an auto-immune disease. The patient's immune
system attacks the blood vessels of the type that are found in the skin, and in
muscle tissue. These blood vessels become inflamed, and this is called
vaculitis. This causes two primary symptoms.
The first symptom is a characteristic skin
rash. The rash often affects the face, eyelids, and hands, and sometimes the
skin above joints, including the knuckles, knees, elbows, etc. The color of the
rash is a pinkish purplish, and is called Heliotrope (after a flower of the
same name with approximately this color). On the hands and face, the rash very
closely resembles eczema, fifth disease, or other more common skin condition,
but the heliotrope color is unique to the inflammatory process of JDMS.
The second symptom is muscle inflammation.
The vasculitis also
affects muscle tissue, causing it to become inflamed and weak. The weakness can
cause fatigue, clumsiness, not keeping up physically with peers, and eventually
inability to perform tasks like climbing stairs.
2. What lab tests are
typically given?
Normally, an array of blood and other lab tests are
given to diagnose, assess, and monitor the condition of a JDMS patient.
Test Name -Description
CK (Creatine Kinase) or
CPK (Creatine Phosphokinase) -Whenever muscle cells within the body are
damaged, they leak some of this enzyme into the bloodstream. This can occur
during normal daily use of muscles, or from exercise, or may be caused by an
injury or a heart attack. When CK levels are elevated, it may also indicate
that JDMS is active. Levels significantly above normal ore often associated
with clinical symptoms of fatigue and weakness of muscles.
AST (Aspartate Aminotransferase) and
Aldolase -Aldolase
is an enzyme that is involved in the breakdown of the blood sugars glucose,
fructose, and galactose. This breakdown is a process used by cells to generate
energy in the form of ATP (adenosine triphosphate). Aldolase can be an
indicator of muscle inflammation.
LDH (Lactate
Dehydrogenase) -LDH is used to detect the presence of tissue damage or
inflammation. Drugs that can increase LDH measurements include anesthetics,
aspirin, clofibrate, fluorides, mithramycin, narcotics, and procainamide.
von Willebrands factor (vW Factor VIII) -For JDMS, a
high value for this test is sometimes an indicator for blood vessel
inflammation, or vasculitis. This test is normally done to help diagnose
hemophilia, in which case the result is below normal.
CBC (Complete Blood Count) -A name for the collection of
standard blood tests usually done as a group, including RBC (Red Blood Cell
Count), WBC (White Blood Cell Count), Hematocrit, Hemoglobin, Sedimentation
Rate, Platelet count, MCV (mean corpuscular volume), MCH (mean corpuscular
hemoglobin), and MCHC (mean corpuscular hemoglobin concentration), among
others. This is done to check on the overall health picture.
In addition to blood tests, diagnostic
tests that may be administered include biopsy, MRI (Magnetic Resonance Imaging), EMG (electromyograph), and Bone Density scans. MRI can be a visual indicator of muscle
inflammation; EMG can reveal irregularities in the muscle tissue; Bone Density
scans are used to measure whether there is any bone loss due to treatment with
steroids.
3. What is the typical progression of JDMS?
Most
kids start by getting the skin rash, followed within weeks or months by
progressively worsening muscle weakness. Since JDMS is so rare, it is frequently misdiagnosed as
one kind of skin ailment or another (such as Eczema or Fifth Disease), then once muscle symptoms set in, as Muscular
Dystrophy or other muscle disease. The speed of the progression is highly
variable, sometimes with muscle symptoms never appearing at all or very
gradually over the course of months, and sometimes going from normal to being
unable to walk within days; usually, muscle symptoms appear weeks to months
after the onset of the rash.
4. Do kids "outgrow" JDMS?
Most
kids diagnosed before puberty (on the order of 95-98% of them) will eventually
go into "permanent remission", a state where there are no clinical
symptoms, no abnormal lab results, and no medication being given for some
period of time (say, a year). Most of these go on to lead normal, healthy adult
lives. Some kids do have lingering problems; most of those are kids who were
not diagnosed promptly and/or treated aggressively. Long-term complications
include muscle damage and calcium deposits (Calcinosis)
under the skin that may be motion-limiting or painful.
Recent studies show that early, aggressive
treatment of JDMS is the strongest indicator of good outcome (permanent remission) and disease duration. Most cases that have
long-term problems seem to be the ones that took the longest to diagnose and
treat.
5. How rare is JDMS?
Recent
studies have indicated that JDMS occurs at a rate of about 3 per million children (under 18 years old) per year in the
6. What treatments are given for JDMS?
Once a
diagnosis of JDMS is made, the treatment is often a 3-day course of IV
("pulse") steroids (Methylprednisolone (Solu-Medrol)), followed by a
high dose of oral Prednisone (usually 1-2mg/kg of body weight). for several weeks. This action usually brings the disease
under control, lowering most lab tests to or near normal values. Some minor
improvement in muscle symptoms may also be seen in this time, but normally it
takes a long time for full muscle strength to be regained. It has been shown in
studies that early, aggressive treatment of JDMS results in the fastest
recovery and best outcomes.
Once the disease process is under control,
oral steroids are tapered gradually to minimize their side effects. Sudden withdrawal of oral steroids is
dangerous. Often, steroid-sparing
drugs, such as Methotrexate (a chemotherapy drug in much higher doses than is
given for JDMS), are given to compensate for the reduction in oral steroids.
Once the oral steroids are reduced to a less toxic level, the sparing agents
can also be gradually withdrawn. Lab results should be closely monitored during
the tapering process to ensure that the disease is not recurring
("flaring").
In
the cases where steroids or second-line drugs are not tolerated or are
ineffective, there are other treatments that can be tried. One of these is a
class of treatments with other chemotherapy drugs, such as Cyclosporin, that have been shown to have anti-rheumatic
effects. Another is Intravenous Immunoglobulin, an engineered blood product
that has been shown to be very effective against JDMS.
To
treat the skin rash, anti-malarial drugs, such as Plaquenil (hydroxychloroquine) are usually given. Topical steroid creams
(hydrocortisone) may help some patients, and new anti-rheumatic creams (such as
Protopic (Tacrolimus)) are proving to be very effective. Dry skin caused
by the rash can be combated by regular application of sunscreen or any
moisturizing cream, such as Eucerin.
7. What does Prednisone do? What are its side effects?
Prednisone is an artificial corticosteroid that is used to treat many
diseases. Corticosteroids are steroids that are produced naturally in the body,
in the adrenal glands. Prednisone has a dual effect. First, it is a power
anti-inflammatory, and it directly attacks the inflammation caused by JDMS.
Second, it is an immunosuppressant, thereby attacking the mechanism by which
the inflammation is caused in JDMS.
Prednisone is usually given in very high
oral doses soon after a diagnosis of JDMS is made. The initial dose is usually
between 1-2 mg per day per kg of body weight. The daily dose of Prednisone may
be split 2 or even three ways across each day; this increases the effect, and
the side effects, of the same size dose. Conversely, the daily dose may be
doubled and taken on alternate days. This decreases the effect, and the side
effects, of the same size dose.
Methylprednisolone
(Medrol, or Solu-Medrol) is a form of Prednisone that
is given intravenously (IV). Frequently, it is given in very high doses (up to
1000mg) through an IV infusion that takes 2-4 hours. This is often done shortly
after initial diagnosis or the start of a flare, usually on 3 consecutive days,
then weekly until the disease is under control. This type of steroid therapy
usually has fewer and milder side effects than oral Prednisone.
Prednisone commonly causes stomach upset.
Prednisone should always be taken on a full stomach and with a full glass of
water or milk to minimize this problem. For this reason, alcohol should be
avoided while taking Prednisone, but this should not be a concern for most JDMS
patients.
Taking high doses of Prednisone causes the body to stop
producing natural steroids. If it is taken for long enough, the adrenals may
atrophy and have difficulty to start producing steroids on their own. For this
reason, Prednisone must not be withdrawn suddenly, but rather must be tapered gradually
to give the body a chance to begin production of steroids. Stopping Prednisone
suddenly is very dangerous! Discontinuing its use must be done only with
careful medical supervision.
Because Prednisone suppresses the immune
system, special precautions must be taken. Most immunizations should not be
taken while on Prednisone, although your doctor can tell you which are safe.
Prednisone should not be started if you are fighting a serious infection of any
kind, and sources of infection should be avoided while taking it. Regular,
thorough hand washing is a good defense against most environmental sources of
infection. Note that if an infection occurs, it may take longer than usual to
recover from it.
Prednisone can cause many side effects,
including insomnia; nausea, vomiting, or stomach upset; fatigue or dizziness;
muscle weakness or joint pain; increased appetite; weight gain; glucose
intolerance (steroid diabetes); acne; increased hair growth; thinning of the
skin (easy bruising); high blood pressure; cataracts; glaucoma; osteoporosis
(Calcium supplements and drugs like Fosamax (Alendronate) can help); roundness
of the face (Cushing's Syndrome); "buffalo hump" (fat deposits on the
back); avascular necrosis (bone damage due to blood vessel damage); and
behavioral changes (mood swings). The manifestation of these side effects
varies widely from patient to patient, and depends on the dose, frequency, and
duration of treatment. Check out this excellent link for descriptions and
pictures of some of these side effects: Vasculitis
Methotrexate (MTX) is a DMARD (Disease Modifying Anti-Rheumatic Drug)
that is given usually in addition to Prednisone or other corticosteroids. In
much larger doses, MTX is given as a chemotherapy drug, but in the doses given
to myositis patients (up to 40mg/week), it acts as a
general immune system depressant. Note that it will usually take several weeks
of therapy before any effect of MTX is seen.
MTX is usually taken orally in doses up to
about 20-25mg/week, but oral MTX sometimes causes digestive tract distress
(nausea, stomach pain, gas, bloating, diarrhea, etc), especially in higher
doses. It can also be injected (see below). Given orally, it can be taken in
either pill or liquid form. Note that the liquid form is the same stuff that is
injected, except that it is simply swallowed instead. Note also that the pill form
of MTX is much more expensive than the liquid form per dose.
In larger doses, MTX can be injected
either intravenously (IV), intramuscular (IM), or subcutaneously (SQ). There
are the usual caveats as with any injections (risk of infection, site soreness,
etc). Injected MTX causes much less in the way of digestive distress, and the
action is supposedly more direct and is effectively a higher dose vs. oral MTX.
MTX is a foliate inhibitor, so taking it
will often cause symptoms of folic acid deficiency. The first sign is usually
oral sores. These side effects are mediated by taking a folic acid supplement,
usually on the order of 1-3mg/day, sometime skipping the day of the MTX dose so
as not to minimize its effect. Your doctor should tell you about this. There
are few, if any, side effects from folic acid supplements that I know of.
When we used it for Julia, MTX was given
as a replacement for Prednisone as it was tapered. It worked well, and
fortunately Julia tolerated pretty well. She took it orally until we increased
to a dose of 25mg/week, then switched to SQ injections, which we did ourselves
at home. She eventually was on a dose of 35mg/week, which we then started to
reduce because of some problems with white cell counts. She stayed on the
injections until her MTX dose was reduced to 15mg/week (Spring
of 2001).
9. What does Plaquenil do? What are its side effects?
Plaquenil (generic name: Hydroxychloroquine or Hydroxychloroquine
Sulfate) is an anti-malarial drug that also is a DMARD (Disease Modifying
Anti-Rheumatic Drug). It is usually given to treat the rash of JDMS, but it
does have systemic effects. Plaquenil is usually given in generic form,
although there is some anecdotal evidence that the name-brand form is more
effective. We were told that it may take 3-9 months of therapy before any
effects are seen.
Plaquenil can cause stomach upset
symptoms, so it should always be taken on a full stomach and with a full glass
of water or milk. It can also cause vision problems, including retinal
abnormalities, and so an eye exam should be given every six months while taking
Plaquenil.
10. Does exposure to the sun affect JDMS?
Given
that JDMS is a disease that affects the skin by causing a distinctive rash, it
stands to reason that exposure to the sun can exacerbate the rash. Exposure to
the sun can and does often affect the rash directly, making it more intense and
widespread. However, exposure to the sun, especially receiving a sunburn, can cause more serious effects. While studies in
this area are not conclusive, at least some children have had flares (relapses)
of the general disease when exposed to too much sun.
It is a good idea to apply a high SPF (Sun
Protection Factor of 30 or higher) sunscreen to JDMS kids daily. This is true
even in the child is going to spend most of their time indoors, as fluorescent
bulbs give off some potentially damaging light. This practice has the side
benefit of acting as a skin moisturizer, keeping the skin from drying out and
cracking, which can be unsightly and painful.
It has been recommended to us that
sunscreen be applied liberally every morning, regardless of the expected sun
exposure. It is also a good idea to reapply sunscreen during every couple of
hours of actual sun exposure, after swimming, and after exercise or activity,
as sunscreen loses its effectiveness as it rubs off. There are many brands of
sunscreen available; it is suggested to try different brands until one is found
that is comfortable to apply and wear.
Besides using sunscreen, it's a good idea
to avoid unnecessary sun exposure of any kind, especially in the middle of the
day when the sun's rays are most intense. You may want to plan activities and
vacations around indoor or shady locations. Wearing a hat or cap while in the
sun is a good way to keep the sun off the face. You can also purchase special
clothing and swimwear that blocks the sun, but is fashionable and comfortable
in hot weather.
11. What advice can you offer for dealing with JDMS?
- Keep a notebook.
Write down exactly what the doctor says, because you probably won't remember
later if you don't. Keep the notebook handy all the time, and write down any
questions as they occur to you. Enter all lab test results. Jot down events
that occur (like falls, colds, or whatever) - they may seem insignificant
alone, but a string of them can indicate a trend or a symptom. Having a
notebook like this can be very valuable both to you and to your medical team.
- Be informed. Read some books, scan the Web sites, ask a lot of
questions and pay attention to the answers. Be active in the decision making
process - don't just do what the doctors say without question. Using your
notebook can go a long way here, too. Most doctors appreciate a well-informed
patient.
- Seek help and support. Don't try to go it alone. Your medical team can
tell you where local support for JDMS is - usually rolled into another
disease's support (like JRA) because there are usually not enough JDMS patients
in one place to have an actual support group. Seek help from relatives,
friends, and neighbors, as well as medical professionals, particularly if your
child is disabled by the disease. There are a number of Web sites that offer
support for the Myositis diseases, and you should take advantage of them. The
people there understand what you're going through because they've been there.
|
Description |
|
|
CK (Creatine Kinase) or |
Whenever muscle cells
within the body are damaged, they leak some of this enzyme into the
bloodstream. This can occur during normal daily use of muscles, or from exercise,
or may be caused by an injury or a heart attack. When CK levels are elevated,
it may also indicate that JDMS is active. Levels significantly above normal
ore often associated with clinical symptoms of fatigue and weakness of
muscles. |
|
CPK (Creatine Phosphokinase) |
|
|
AST (Aspartate Aminotransferase) and |
Liver enzymes that are
measured to monitor liver damage. Some drugs used to treat JDMS (such as Methotrexate)
may cause liver damage, and these need to be monitored. |
|
ALT (Alanine
Aminotransferase) |
|
|
Aldolase |
Aldolase is an enzyme
that is involved in the breakdown of the blood sugars glucose, fructose, and
galactose. This breakdown is a process used by cells to generate energy in
the form of ATP (adenosine triphosphate). Aldolase can be an indicator of
muscle inflammation. |
|
LDH (Lactate Dehydrogenase) |
LDH is used to detect
the presence of tissue damage or inflammation. Drugs that can increase LDH measurements
include anesthetics, aspirin, clofibrate, fluorides, mithramycin, narcotics,
and procainamide. |
|
von Willebrands factor (vW Factor
VIII) |
For JDMS, a high value
for this test is sometimes an indicator for blood vessel inflammation, or
vasculitis. This test is normally done to help diagnose hemophilia, in which
case the result is below normal. |
|
CBC (Complete Blood Count) |
A name for the
collection of standard blood tests usually done as a group, including RBC
(Red Blood Cell Count), WBC (White Blood Cell Count), Hematocrit, Hemoglobin,
Sedimentation Rate, Platelet count, MCV (mean corpuscular volume), MCH (mean
corpuscular hemoglobin), and MCHC (mean corpuscular hemoglobin
concentration), among others. This is done to check on the overall health
picture. |
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