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Kenneth H.
Neldner, MD
The common
advice given by many physicians to those afflicted with PXE
(or any other hereditary disorder) is that you can’t change
your parents or your genes, so learn to live with what you
have and hope for the best. Their only advice is to come
back if you have any problems. I have heard many patients
with PXE repeat this rather sad tale of woe after receiving
such poor medical advice.
My present
objective is to emphasize the often over-looked aspect of
PXE management, which involves the effects of the
environment and life styles (its Nurture) on the natural
course of the disorder (its Nature). It is obviously true
that we can’t change our genes, but there are many things
that can be done to prevent, or at least delay the onset of
complications by making every effort to keep our risk
factors as low as possible.
Whether
anyone has PXE or not, we are all aware of life’s major risk
factors, i.e., stay out of harms way (and don’t get run over
by a Mack truck!). Life is full of risk factors for
everyone and PXE has a few additional ones to deal with.
Some may be difficult or impossible to totally avoid, but
many can be minimized, or at least delayed, if proper
precautions are taken. Unfortunately the ‘most difficult’
category contains two of the most critical items—diet and
exercise. They both require determination, dedication and
“true grit”. I’ll be coming back to them several times
before we’re finished.
In an effort
to avoid concentrating on the ‘middle years’ and major
complications, I have divided PXE into age groups with some
important recommendations for each group.
Ages 2 to 20
years
The average
age of onset for the first signs of PXE (the skin lesions on
the neck) is 13 years. Rare onsets have been reported as
early as age 2 years and rare adult onsets are also
reported. It is important to establish the diagnosis as
soon as possible because the life-long management of PXE
begins as soon as the diagnosis is made.
As many of
you have learned, most general physicians are unfamiliar
with PXE due to its rarity and fail to make the diagnosis,
so the disorder often goes undiagnosed for many years,
Dermatologists should be consulted. They are more familiar
with PXE and should make the diagnosis instantly.
Some
important early recommendations for this age range include
the following:
1.
Keep dietary
calcium intake on the low side. 600 to 800 mg. per
day is
a good range. It simply means cutting back on dairy
products.
2. Avoid
head contact sports such as boxing, football, soccer and
very heavy weight lifting. Encourage such sports as track,
swimming, volleyball, baseball (if wearing helmets) and
basketball.
Smoking,
which usually begins in high school, is well known to add a
high risk factor to the natural course of PXE and should be
avoided at all cost.
Ages 20 to 40
years
This is
generally a symptom free period, other than for the cosmetic
aspects of the skin lesions which can be very mild or quite
extensive in the flexural areas of the body.
1. Get to
know a good retinal specialist—preferably someone familiar
with PXE (this may be difficult). Request retinal
Kodachrome photos for documentation of any angioid streaks
and for future comparisons of any changes. Essentially
100% of individuals with PXE will develop angioid streaks
during this period, but they cause no symptoms of any
kind.
2. Check
your serum lipids (cholesterol, triglycerides, HDLs, LDLs
and homocysteine). If abnormal, treat first with
appropriate diet and increased exercise. If necessary,
add oral lipid lowering medications.
3.
Develop a
regular exercise program and a diet low in red meat and
saturated fat and high in fruits and vegetables. Avoid
obesity at all cost.
4.
Intermittent Claudication can begin during this age
range. If it does occur, the best treatment is a more
intense exercise program aimed at the legs (jogging,
walking, treadmill, bicycling) which will develop
collateral circulation around the narrowed vessels and
relieve many of the symptoms. Oral medications, such as
Trental, are available if necessary.
Ages 40 to 60
years
This is the
age when the risk for retinal hemorrhages becomes greater.
Keep an Amsler Grid around and check with your retinal
specialist if ‘wavy lines’ are noted on the grid.
1. There is
currently a great deal of interest in the treatment of the
common condition of Age-Related Macular Degeneration
(AMD), which has macular hemorrhages and central vision
loss almost identical to PXE. So we are hoping that
whatever works for AMD will also work in PXE.
2.
Conventional laser therapy is seldom if ever indicated in
PXE because it leaves retinal scars as large, or larger
than, normal healing and does not prevent recurrences.
The very new PhotoDynamic Therapy (PDT) is being widely
tested for AMD. Thus far it is not a magic treatment by
any means, but the long-term follow-ups are not yet
available. A new thermal (heat) treatment is also being
tested. There are several other new surgical approaches
‘in the pipeline’ which are experimental and will be
evaluated over the next few years.
3. Continue
that diet and exercise program that you started many years
ago!! I’ve heard rumors that early morning mall-walking
has become very popular. It sounds like a great place to
avoid all weather and temperature problems (and muggers).
Just don’t ruin it all by eating a couple ‘fat-filled’
donuts after you finish.
4. Be sure
to take a good multiple vitamin tablet daily plus an extra
400 IU of natural vitamin E per day.
5. Avoid
the regular daily use of aspirin or any of the Ibuprofen
group of pain relievers. They can irritate the stomach
and then the blood so that bleeding anywhere in the body
would be easier.
Celebrex is the newest pain pill
that has very few of these side effects although it is not
100% free. Tylenol is OK if you find it helpful as a pain
reliever.
6. Get an
annual physical exam with a recheck on your serum lipids
and your blood pressure. Treat any persistent elevation
in blood pressure. An elevated blood pressure will
aggravate bleeding from any site as well as any
cardiovascular complications.
Ages 60 to
100 years
For those who
have had retinal hemorrhages in both eyes, it has been a
matter of finding how to best cope with the central vision
loss. Remember that peripheral vision is never lost and no
one with PXE ever goes completely blind.
1. If you
have not already done so, it is important to contact a
good low vision clinic. Some are much better than
others. There are many different low vision aids and
devices available and more are being developed all the
time. You should find a low vision clinic that has them
all available and then test them all to find the one that
works best for you. Everyone will be different. If your
vision is changing, you should be testing all the new
‘gadgets’ every year.
2. Keep
those annual physical exams going with blood pressure and
lipid checks. Treat anything abnormal.
Ages 100 to
110 years
Congratulations!! You are among the blessed few persons
living on our planet.
Gastrointestinal hemorrhage
1. Bleeding
from the stomach needs a separate category since it can
occur at any age from adolescence to old age. It is
uncommon, occurring in about 10 to 15% of everyone with
PXE.
2. Any
signs of coughing, spitting or vomiting blood should be
considered a medical emergency and must be treated in the
hospital. It may stop of its own accord with anti-acid
and diet therapy, but can be severe enough to require
blood transfusions and in the worst cases, surgery may be
required.
Summary
As promised,
I will finish by admonishing you one last time to establish
a diet and exercise program as the most important basic part
(the nurture) of your total program. They are the least
expensive ‘medical treatments’ you can ever get. In fact, a
low calorie diet will save you grocery money!! Exercise
helps to maintain normal weight, a healthy cardio-vascular
system and also helps to prevent arthritic and joint aches
and pains. Losing weight is extremely difficult for most
people. The best treatment for obesity is to never become
obese and thereby avoid the problem of losing it. I know
you can do it.
PS: NAPE
needs a Special Interest Group for the teen-age years. It
could be called “NAPE for the Early Years”. Let us hear
from any of our young readers who would be interested in
forming such a group for exchange of information among
NAPE’s youngest members. We would help you through the NAPE
office in any way possible.
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