Porphyria Educational Services
Monthly Newsletter
November 2001
Columnist and contributors and the information that they provide are not intended as a
substitute for the medical advice of physicians. The diagnosis and treatment of the
porphyrias are based upon the entire encounter between a physician and the individual
patient.
Specific recommendations for the confirmed diagnosis and treatment of any individual
must be accomplished by that individual and their personal physician, acting together
cooperatively.
Porphyria Educational Services in no way shall be held responsible in part or whole for
any injury, misinformation, negligence, or loss incurred by you. In reading the monthly
newsletters you need to agree not to hold liable any contributing writers.
Focus:Abdominal Pain as a Major Hepatic Porphyria Symptom.
In the hepatic porphyrias there are many various
symptoms. Many of the symptoms stem
from the CNS [central nervous system]. Most of the porphyrias are noted for
their
neurological conditions as well as their cutaneous symptoms. One of the most
frequent
symptoms experienced is that of abdominal pain.
Pain in the abdominal area is often noted during
the onset of an acute attack.
Often
referred to as stomach pain or cramping, it also can be a chronic smoldering
condition in
many porphyria patients.
While there are many causes for abdominal pain in normally
healthy people, such pain is
usually not related to a serious or severe medical disease or condition.
Onset of the menses in women, bladder or urinary
tract infections, gallstones,
kidney stones, gas or indigestion are the more common maladies that can be
associated
with abdominal pain. However abdominal pain associated with porphyria is a
perplexing
one.
Abdominal pain in porphyria is known to be present,
yet it can not be tested, and the
specific cause can not yet be identified. It is also known that high
carbohydrate intake
either consumed or through intravenous infusion can reduce the abdominal pain
within a
short time and that pain most usually will go into remission.
In porphyria patients without a confirmed diagnosis, a trip to the emergency room with
severe abdominal pain can be a lengthy process and usually without alleviation of the pain
without a wait.
Because such abdominal pain can be a nonspecific
symptom in many people, such pain
may be associated with a multitude of conditions. Abdominal pain
does not always originate in the abdomen or when it does may not originate in
the
gastrointestinal tract.
Also important to note is that the severity of
the pain does not always reflect the severity
of the condition causing the pain.
A person with such abdominal pain should be highly
suspect for porphyria, however
unless the patient has a family history of the disease, or after lengthy
laboratory
testing and a variety of procedures has taken place, porphyria is usually not
considered.
When a patient with the abdominal pain goes to the EOD for help and does not know
of the porphyria they will most likely be checked for early appendicitis, cancer, gall stones,
kidney stones, bladder infection, ovulation problems, biliary tract disease, renal disease,
and /or a blocked bowel.
Many a porphyria patient has undergone laproscopy, had their appendix removed,
or their gall bladder removed. Almost all have had barium enemas, endoscopies
or colonscopies, in addition to the GI series, abdominal ultrasound [doppler], abdominal
x-rays, CT scans, or MRIs.
While in the EOD if a patient is termed "acute abdomen" usually immediate
surgical intervention is prescribed. Such abdominal pain that indicates a potential
emergency condition is usually associated with a raise in temperature, nausea,
bloating and/or constipation. While these are all associated with a bowel obstruction,
as most hepatic porphyrics are aware, they are also conditions present in acute
attacks of
porphyria.
Dr. Robert Johnson, M.D.
FOCUS: Porphyrinuria & Toxic Induced Porphyria
Toxic metals induce porphyria. And toxic metals
also cause cell injury in the human body.
How does this occur and why?
Why do two people test with high porphyrin elevations and one have porphyria
and the other have what is term Porphyrinuria?
Different molecular types of porphyrins that normally occur in the urine of healthy
people can be determined in a laboratory to form a very characteristic pattern which is
predictable time and again.
During laboratory testing when an alteration of these usual predictable patterns
are different because of an elevation in one or more of the porphyrins, there is
what is called a porphyrinuria.
Porphyrinuria is any elevation of porphyrins in
the urine.
Toxic metals perturb cellular organelle function. These metals also promote an increase
in the reactive proxidants.
In addition the toxic metals compromises the antioxidant and the thiol status.
When this happens the toxic metals impair the enzymes as well as the other
proteins.
The bottom line in this whole process is that of a metal induced oxidant stress
cell injury. Furthermore oxidation of porphyinogens to porphyrins which become known
as porphyrinuria are remitted in the urine.
Numerous toxic chemicals can be responsible for porphyrinuria. Both foreign and
environmental chemicals play a big role in the scheme of things. Such chemical include
hexachlorobenzene, dioxins a.k.a. TCDD, benzene, carbon tetrachloride, polyhalogenated
biphenyls.
In addition heavy metals are considered intoxications. These include drugs, mercury,
arsenic and lead.
Alcoholism is also a prominent intoxication.
So when any of the above exposures has occured a porphyrinuria can be expected. Even
normally healthy people can present with a porphyrinuria after an exposure
to toxic metals.
Porphyria, as a definitive diagnosis is used for specific clinical symptoms that are
directly caused by an inherited mutation or defect in one or more of the enzymes that can
be found in the heme biosynthesis.
A terminology in a larger context which is applied for any disorder in porphyrin
metabolism is that of Porphyrinopathy.
Dr. Don McDaniels Ph.D.
Bio-Chemistry & Genetics
FOCUS: The Problem with Fabric Softeners for Porphyrics
Fabric softeners were thought to be a welcomed addition to the household detail of
care for clothing and household linens. But that same wonderful invention has brought
with it a living nightmare for many chemically sensitive people and especially for many
people with one of the porphyrias.
Now today there have been found numerous health risks associated with the use of
fabric softeners. Yes, linens and clothing as soft and mostly wrinkle free, but what about
those elements in the fabric softeners which bring these benefits about?
There are many chemicals found in fabric softeners. Identification has been made of some
volatile organic compounds. Some of these elements have direct effects on the
central nervous system [CNS] of humans.
Dryer exhaust vents which put the chemical toxins from the fabric softener sheets
back into the air have been found to be very irritating to the mucous membranes
of those who inhale the exhaust fumes.
Some studies have shown that such fumes breathed deeply into the lungs can produce
pneumonitis or even fatal edema. Some people have documented a loss of muscular
coordination, while others cite respiratory depression. Many report headaches and
nausea.
And so just what are in these fabric softeners?
Chloroform is one of the primary ingredients. Others include Camphor, Limonene,
Benzyl alcohol, Ethyl acetate, and Linalool.
Many of these are known to be carcinogenic, meaning that it can lead to cancer.
All of them have effect on the Central Nervous System [CNS], which can cause
vomiting, nausea, headache, dizziness, lowered blood pressure, and in some cases cause
respiratory failure.
Many will irritant the eyes, nose, throat and even the lungs. In addition some will cause
confusion, twitching muscles and seizures.
In the case of the chloroform, it can aggressively aggravate both kidney and liver
disorders as well as cutaneous disorders. To a lesser degree the ethyl acetate
can also cause liver and kidney damage.
Some of these will cause a skin rash and prolonged skin irritation.
Those involving the CNS will cause symptoms that include seizures, aphasia, blurred
vision, disorientation or mental confusion, dizziness, headaches, hunger, memory loss,
numbness in face, pain in neck and spine.
Many common household products besides fabric softeners can cause problems for
porphyria patients or others with pulmonary disease or chemical sensitivity. It is good to
make a household inventory of such products and make family members and care
takers aware of the potential harm that such products can trigger.
Deborah Mooney MSN, NP
Allergy & Immunology
FOCUS: Constipation - a Troublesome Porphyria Symptom
During times of acute hepatic porphyria exacerbation's most often right along side the
ever present abdominal pain, is that of constipation.
Bowel movements will be infrequent, if at all. Any presentation will usually be in the form
of hard stools. Presentation will be with a large degree of difficulty in the passing of the
stools.
Constipation in the porphyrias is just one of the many neurological conditions that
presents.
Part of the reason is dietary change that often occurs. Also the depression that some
porphyria patients seems to present with carries along with it the problem of constipation
as well.
If the porphyria patients has been receiving narcotic medications such as the demerol for
control of the pain associated with the disease, it too will cause constipation.
Many porphyria patients will also experience dehydration during attacks because of
prolonged nausea and vomiting, as well as the in ability to consume enough liquids.
Other contributing factors can be the lack of ability to ingest enough fiber, and the fact
that during attacks the porphyria patients most often finds themselves in an immobile state
due to long periods of time spent in bed , as well as the inability to undergo
much physical exercise.
For the most part enemas or laxatives should be avoided. A laxative dependence
can be developed and needs to be avoided. A stool softener is feasible for use
in conjunction with ingestion of liquids. Dulcosate sodium is one such stool softener.
The action of such brings in moisture to the stool and allows for the stool to soften.
The stool softeners are not considered habit forming.
For many porphyry patients the degree of constipation will resolve after a several hours
of intravenous infusion which helps to restore hydration to the body.
Lyle Crosby PA
Gastroenterology
FOCUS: Struggling with Tiredness
Many porphyria patients will mention the fact
that they almost always feel tired and
lament what they wouldn't do to get a good night's sleep. A quality sleep.
Being tired is one of the most common conversation points. Such tiredness is difficult to
describe. Porphyria patients tend to express it in a variety of ways, using terms such as
"out of it", dragging, fatigued, tired, weary, drowsy, weak, exhausted, having a lack of
energy, heavily burdened, slow, or worn out.
Clinically such a medical condition is described as being characterized by distress or
by having a decreased functional status related to a decrease in energy.
Some tiredness is normal or expected. Such tiredness is described as having localized
intermittent symptoms. Such tiredness will often begin rapidly and will last only a short
time period. Having quality rest will usually alleviate the tiredness. In this
type of tiredness following a period of quality rest the porphyria patient will return to
a normal level of functioning.
However for most porphyria patients, there is an ongoing chronic tiredness. Such
tiredness is very persistent. This type of tiredness will last for weeks or months. There
never seems to be an end in site.
Such chronic tiredness is prolonged. This type of a condition is debilitating fatigue.
At present the understanding of such tiredness in porphyria is poorly understood, but is
recognized as a medical condition present in many hepaic porphyria patients.
Such tiredness coupled with other CNS symptoms of porphyria have caused many
porphjyria patients to discontinue working. Cognitive abilities are significantly lowered
when a person does not have adequate rest and is feeling tired. Couple this with the
mental changes, muscle weakness or loss, and the porphyria patients finds themselves less
functioning individuals.
Such tiredness may become a critical issue in their lives of porphyria patients. Always
being tired may influence one's sense of well-being. The porphyria patients will focus in
on their failing daily performance.
Always being tired will also reduce the activities of daily living, relationships with family
and friends. Often there is frustration which may lead the porphyria patient to want to
give up entirely. It must be noted that suicide is a factor that has been cited in
the acute porphyria.
Financial resources may become limited as people suffering from ongoing tiredness and
other aspects of porphyria find themselves frustratingly trying to get into disability
programs.
Medical treatment may become compromised due to difficulties in maintaining health
insurance. Without coverage many porphyria patients can not maintain Preventive
Glucose Infusion Therapy which is an aggressive treatment which has proven to
prevent the more severe acute attacks and long periods of hospitalization.
Liz McAllister MSN, NP
Sleep Medicine