Porphyria
Educational Services
March
2001 Monthly Newsletter
FOCUS:
Muscle Weakness In Porphyria
Muscle weakness or a lack of strength is a reduction in the
strength of one or more muscles. Such weakness in porphyria is a
very important symptom. The feeling of weakness may be
subjective. By this I mean that the person feels weak but has no
measurable loss of strengthor concrete which is defined as a
measurable loss of strength. Weakness may be generalized or
defined as a total body weakness. Weakness may also localized to
a specific area such as a limb, one side of the body, a side of
the head, and such. A subjective feeling of weakness usually is
generalized and associated with infectious diseases such as
infectious mononucleosis and influenza. Weakness is particularly
important when it occurs in only one area of the body. This is
consdered a localized or focal weakness. Localized weakness may
follow an acute attack of porphyria. Often such weakness is found
in conjunction peripheral nerve problems. The common cause of
such muscle weakness may result from a variety of conditions
including metabolic, neurologic, and toxic disorders. This
includes most of the porphyrias. The toxic triggering of muscle
weakness has been found to be largely in part due to pesticides,
fungicides, herbicides, rodenticides, and paint and other
chemical inhilation. In most porphyria patients such weakness
reults in periodic paralysis which is potassium related, such as
hypokalemic periodic paralysis which occurs when the potassium
blood serum levels diminish. Also other medicsal conditions by
porphyria patients especiallyautoimmune disorders that interfere
with the transmission of nerve impulses to muscle. Porphyria
patients that use chloroquine will also experience extreme muscle
weakness. and while used to treat one form of porphyria the use
of chloroquine by the other seven main forms of porphyria is
contraindicated.
There may be other causes of weakness. This list is not all
inclusive, and the causes are not presented in order of
likelihood. . Furthermore, the muscle weakness may vary based on
age and gender of the affected person, as well as on the specific
characteristics of the symptom such as location, quality, time
course, aggravating factors, relieving factors, and associated
complaints. Dr. Robert Johnson M.D. PhD. Retired Clinician
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FOCUS: Increased Porphobilinogen in the Urine
Porphobilinogen is better known as PBG. PBG is an intermediate in
the heme biosynthesis pathway. Numerous types of disease states
can lead to a rise in the level of PBG. This is especially true
in some forms of hereditary porphyria. What happens in porphyria
is that enzymes subsequent to PBG in the heme biosynthetic
pathway are deficient or missing. When these enzymes are missing,
this will lead to a buildup of PBG. This PBG passes into the
blood along with ALA which is another intermediate of the
pathway. ALA is aminolevulinic acid. Both ALA and PBG cause
neurological symptoms including headaches and stomach cramps.
When the level of PBG in the blood rises it is easily filtered
into the urine as it is a small molecule. High S.G. and high
osmolality may be due to excess glucose in the urine (diabetes
mellitus) or protein. This also might simply be due to
dehydration. These tests are nevertheless useful as
"first-line" screening tests to help determine whether
further tests are needed. Most porphyria patients before reaching
a confirmed diagnosis of porphyria undergo all too often a large
battery of tests either due to unfamiliarity of the ordering
physician with porphyria or laboratory mishandling.
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FOCUS: BRAIN FOG AND A.N.S.
One of the most frustrating aspects of the neurological
porphyrias is that of brain fog. It is frustrating because of the
associated memory loss or ANS. [altered neurological state]. Many
porphyrics will come to notice speech disturbances, fuzzy vision,
focal and concentration reduction. More over inattentiveness
creates within the porphyria patient a sense of desperation,
powerlessness, and hopelessness. In terms of personal safety
brain fog can even be dangerous at times. Such examples include
driving a motorized vehicle, standing next to a steep delcine or
edge. At home it can be dangerous in the tems of being caught on
a stairwell when brain fog hits, or where a boiling pot is left
on the stove and then forgotten after the period of ANS goes into
remission.
The mental incapacity experience by porphyria patients due to
brain fog is intense and debilitating. Brain fog can often become
a source of great fear among those who suffer from it. The cause
of brain fog or ANS is largely unknown. One hypothesis is that
during periods of ANS the brain is forced into a constant state
of frenzy in an attempt to compensate for the lack of body
control and to accommodate the constant widespread signals of
pain and fatigue. As the porphyria patient becomes weaker and
more fatigued, the brain kicks into overdrive in an attempt to
stimulate body function. Inevitably, the brain will eventually
become over-stimulated and fatigued itself, which results in the
porphyric experiencing ANS.
Whatever the cause of ANS, it is experienced by porphyria
patients on a daily basis. For many poprphyric the ANS will
manifest only in association with attacks and for a short time
thereafter. There is currently no known medical treatment
available to help with the types of problems ANS imparts. MOST
ANS or brain fog can be reduced or elminated however with careful
preventive measures. There are steps that can be taken to combat
it. Porphyria patients must monitor their electrolytes,
especially potassium levels. In addition a person needs to get
plenty of rest. Napping during the day goes a long way in helping
avoifd porphyria attacks and the experience of ANS. As ANS or
brain fog intensifies, and it does in porphyria patients who
become chronic, learning to organize in one's life is essential.
Organization can be an essential part of reducing confusion and
disorder in our lives. When our lives are streamlined in an
orderly fashion, our brains operate mechanically, leaving them
more energy to focus on the demands of our failing bodies.
Being disorganized causes frustration.The more frustrated you
become the more stimulated your brain becomes. This becomes a
vicious circle because the more stimulated your brain becomes the
higher the likelihood of mental fatigue or ANS. Porphyrics who
have helped themselves describe list making as a way of reducing
frustration and find that they then experience ANS less.
Keeping one's self in a routine is also important.
A routine will further reduce the frustration in the life of a
porphyric patient. A routine will help to regulate the times when
mental fatigue is more likely to occur. Do not rely on memory for
scheduling. Use a calender and make appointments according to the
times when you are less likely to be fatigued and mentally
stressed. Another aspects to consider is keeping things simple.
It will allow for peacfulness and this is important in reducing
frustration.
Do not push yourself to the very edge of obliteration. Porphyria
patients need to learn to listen to their bodies and minds.
Delegate responsibilities whenever possible. Allow others to help
you accomplish tasks, whenever possible. Mental exercises are
important. Stimulating your brain can enhance its processes and
working ability. It can promote increases in concentration,
focus, and mental alertness. Also when ANS or brain fog present
it is essential consume some "smart foods" which will
enhance mental capacity. Your mental capacity improves through a
series of neurotransmitters, and it thrives on glucose. This is a
time for lots of good carbohydrates, will will help to stimulate
brain function and at the same time help arrest the over
production of porphyrins in the liver. Porphyria patients also
need to learn to improvise. Relax, write down the thoughts that
you want to convey before making those telephone calls. It is
best to try and limit your conversations to those who are
familiar with your illness when possible and then be
"up-front" with the other party and let those that you
are speaking with that you are not at your best. Spend time by
yourself and in a quiet place. When ANS or brain fog are present
in the porphyria patient it does away with the ability to control
much of what happens to the porphyric, their minds, and overall
in their lives.
JoAnn Wilcox, PhD. Clinical Psychologist
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FOCUS: Bulbar paralysis
Bulbar paralysis is paralysis of the muscles of the tongue, lips,
palate, and throat. The cause is generally a degeneration of the
nerve nuclei in the brainstem, but is known to occur during
severe acute attacks of porphyria. With other diseases bulbar
paralysis is found occurring over age 50. In addition bulbar
paralysis in non-porphyric patients is found in conjunction with
amyotrophic lateral sclerosis or multiple sclerosis. The
porphyria patient has difficulty swallowing and speaking and may
inhale saliva and food. Often the bulbar paralysis will precede
respiratory paralysis in many acute porphyria attacks. It is most
generally accompanied by a peripheral neuropathy and general
weakness. Dr. Robert Johnson M.D., Ph.D.
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FOCUS: Delta-ALA Porphyrin Urine test.
The Delta-ALA urine test is a test that measures the amount of
delta-ALA in urine. It is one of the mmore basic porphyria tests.
Delta-ALA means delta-aminolevulinic acid. It is a basic
component of the heme biopathway.
A 24-hour urine sample collection of urine is needed. An order
for the test must be ordered by your personal physician. The
physician will instruct you, if necessary, to discontinue drugs
that will most likely compromise the results of the test. Also
check with your physician that the correct preservative is being
used in the collection jug. There are several porphyrin urine
tests and each has its own specified preservative. A few things
to remember about the tests is that light, air, and heat will
effect the outcome of the test because these factors will lower
the porphyrin count in the collection. Be sure that the cap is
securely screw onto the container to avoid the leakage of air or
light into the container. On day 1, urinate into the toilet upon
arising in the morning. Collect all subsequent urine in the
special plastic "hat" for the next 24-hours. On the
second day urinate and pour all of the urine into the container
in the morning upon arising. Cap the container. Keep it in the
refrigerator or a cool place [36 to 40 degrees F.] during the
entire collection period. Label the container with your name, the
date, the time of completion, and return it as instructed by
yopur physician. Submit the collection to the laboratory or your
physician as soon as possible upon completion of the test. Be
sure that it is properly stored in refrigeration and not left on
the counter in the light and heat. It would be good to walk with
the lab tech to the storage area and also find out the time it
will be transfered to the assaying lab, and expected time of
results. Be sure to always follow through on the test during the
entire process to avoid the test being compromised in some way.
Avoid exposure of the urine to direct light. The best results for
this test happen when the urine is voided in complete darkness
and pour directly into the collection jug in the dark or very dim
indirect light. This test is useful in detecting specific liver
abnormalities and is a good indicator test for patients suspected
of having porphyria. Delta-ALA is a chemical produced from amino
acids in the liver. It is the basic "building block"
for the synthesis of porphyrins. The most important function of
porphyrins are as components of heme. Heme is the major building
block of hemoglobin. Oxygen binds to the iron in the heme
molecules. Various kinds of porphyrins exist with the same basic
structure but with slightly different chemical
"side-chains". The major biochemical pathway is:
delta-ALA PBG uroporphyrin coproporphyrin protoporphyrin heme
Each step in the pathway requires a specific enzyme. If any of
the enzymes is deficient, them a type of porphyria results.
Normal values 1 to 7 mg per 24-hours Before starting this test be
sure that you are NOT taking any drugs whichmay compromise the
test results. Drugs that may increase test measurements include
penicillin, barbiturates, oral contraceptives, and griseofulvin.
Increased abnormal levels of urinary delta-ALA may indicate many
types of porphyria. In addition increased levels may indicate
lead poisoning. Decreased levels may occur with chronic liver
disease.
Dr. Robert Johnson MD
Monthly Drug Update
PES drug information does not endorse drugs, diagnose patients or
recommend therapy. PES drug information is a reference resource
designed as a supplement to, and not a substitute for, the
expertise, skill, knowledge and judgement of healthcare
practitioners in patient care. The absence of a warning for a
given drug or drug combination in no way should be construed to
indicate that the drug or drug combination is safe, effective or
appropriate for any given patient.
ENDODAN is the brand name for the generic drug OXYCODONE.This
drug can produce drug dependence of the morphine type The
administration of Percodan or other narcotics may obscure the
diagnosis or clinical course in patients with acute abdominal
conditions such as a porphyric attack or other medical
conditions.
ENDODAN should be given with caution to patients with impairment
of hepatic or renal function,or/and hypothyroidism. The drug is
metabolized through the liver.
ZYPREXA is the brand name for the generic drug OLANZAPRINE. It is
an antipsychotic drug. ZYPREXA has a warning in regard to being
prescribed for patients with liver
disease. The drug is metabolized through the liver.
VISUDYNE or VERTEPORIN is a brand new drug used for the treatment
of macular degeneration. PDT [photodynamic therapy] is part of
the treatment process. VISCUDYNE or VERTEPORIN is a light
activated drug. This drug should not be used by persons with skin
photosensitivity, as this is the most common side effect of the
drug, and would be harmful for those with cutaneous forms of
porphyria.
CELEBREX is the brand name for the generic drug CELECOXIB. The
drug is primarily prescribed for the pain relief of artthritis.
This drug should not be used by persons with liver disease. The
drug is metabolized through the liver.
ROXIPRIN is the brand name for the generic drug OXYCODONE.This
drug can produce drug dependence of the morphine type The
administration of Percodan or other narcotics may obscure the
diagnosis or clinical course in patients with acute abdominal
conditions such as a porphyric attack or other medical
conditions.
ROXIPRIN should be given with caution to patients such as the
elderly or debilitated, with impairment of hepatic or renal
function,or/and hypothyroidism. The drug is metabolized through
the liver.
ANTRA is a brand name for the generic drug OMEPRAZOLE. The
primary use for this drug is presently for the treatment of
Alzheimer's. The drug carries warnings and precaution for use in
patients with liver disease. The drug is metabolized through the
liver.
PROLIXIN is the brand name for the generic drug FLUPHENAZINE HCU
which is in the drug class called a TRANQUILIZER. PROLIXIN is a
trifluoro-methyl phenothiazine derivative. This drug runs the
risk of Tardive dyskinesia [TD] with prolonged use. Also this
drug runs the risk of Neuroleptic Malignant Syndrome [NMS] which
is potentially fatal. Best not to be used by persons with
convulsive disorders. A phenothiazine classification drug. Not
recommended for persons with renal or hepatic disease. PROLIXIN
is metabolized through the liver.
DESEC is a brand name for the generic drug OMEPRAZOLE. In
clinical trials this drug was known to elevate liver functions.
Some hepatic failure was noted. The drug is metabolized in the
liver. Caution is listed for persons with liver impairment.
THORAZINE is a brand name for generic drug CHLORPROMAZINE
HYDROCHLORIDE It is a PHENOTHIAZINE derivative. The drug contains
calcium sulfate. It is psychotropic. There is the following
warning that this medication should be used cautiously in
patients with liver disease. The drug is metabolized through the
liver. As with all antipsychotic agents, tardive dyskinesia [TD]
may appear in some patients on long-term therapy or may appear
after drug therapy has been discontinued. Instances of skin
pigmentation have been observed Many porphyria patients have
noted use of this drug with mixed results. Porphyria specialists
still
list the use of Compazine as safe while Thorazine is listed with
mixed results and is potentially dangerous.