Porphyria Educational Services
All information published in the Porphyria Educational Services Monthly Newsletter is
to provide information on the various aspects of the disease porphyria and it's associated
symptoms, triggers, and treatment.
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
Specific recommendations for the confirmed diagnosis and treatment of any individual
must be accomplished by that individual and their personal physician, acting together
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.
Loss of Gait in Porphyric PN
The loss of gait is often is commonly associated with PN in the porphyrias.
Gait abnormalities make walking most uncomfirtable and sometimes even impossible.
Gait abnormalities are unusual and often uncontrollable.
The pattern of how a person walks is called the gait.
Many different types of gait abnormalities are produced unconsciously. Most, but not all, are due to some physical malfunction.
Loss of gait is found in the acute porphyrias. The loss of tendon reflexes are also usually present in PN associated with the acute porphyrias.
Different trypes of gaits carried their own distinctive names or descriptions.
Central nervous system disorders of the brain that cause muscular problems resulting in gait disturbance such as the acute porphyrias are most often seen following severe acute episodes of porphyria.
Peripheral nerve diseases (nerves from the spinal cord to the muscles may be
damaged by disease or trauma and result in gait abnormalities). Such are the
Toxic reactions in porphyria also can cause loss of gait.
Toxic reactions to alcohol and neurotoxic drugs as well as to
chemical elements found in pesticides, weed killers and
fungicides can cause loss of gait in porphyria patients.
Tight or uncomfortable shoes can add to the problems of loss of gait.
The use of drugs including phenothiazines, haloperidol, thiothixene, loxapine, metoclopramide, and metyrosine
have all been known to cause Propulsive gait.
When the use of the drug is discontinued, the gait corrects.
Porphyria patients heading into Liver failure have been
identified with a Scissors gait.
Steppage gait often accompanies polyneuropathy in the porphyrias.
Treatment of the cause of the loss of gait often improves the gait.
Walking assistance for safety reasons, especially on uneven ground is advocated
for porphyria patients with a loss of gait.
Fatigue can often cause an affected person to stub his toe and fall.
Physical therapy and exercise therapy can be most beneficial in walking
Many acute porphyria patients rely on the use of wheelchairs or walkers until the
Porphyria patients with loss of gait should be as self-reliant and independent as possible.
Geraldine Matousek MNS, RN
Stress and Anxiety in Porphyria
In the acute porphyrias, Stress is often seen as a partial trigger. Undue stress
can help induce heme.
Anxiety however is a symptoms rather than a cause of
Anxiety often presents as a result of mental changes during acute episodes of
porphyria. Some porphyria patients may even have an anxiety disorder unrelated to porphyria.
An anxiety disorder remains after the immediate cause of the stress is gone.
Adrenaline is a stress hormone.
Adrenaline can lead to high blood pressure, which is a risk factor for heart
disease. In the cardiopulmonary aspects of acute porphyrias, high blood pressure
and tachycardia can present during the onsret of acute episodes and sometimes have
been found to continue into periods of porphyric remission.
Stress can be a contributing factor to HBP when it remains into periods of
Stress relievers are different for everyone. For porphyria patients it is vital to
It is good for porphyria patients to pactice relaxation techniques that are easy
to learn, such as controlled breathing.
Some porphyria patients have found soft lighting,reduced temperatures, and soft
music to reduce stress.
Dr. Kenneth Carlson
Optic Neuritis a Porphyria CNS Feature
Optic neuritis is defined as inflammation of the optic nerve.
Optic neuritis is a cause of acute vision loss.
Optic neuritis is commonly associated with CNS symptoms in the acute porphyrias.
Although demyelination is the most common identifiable cause of optic neuritis,
hepatitis B, has been identified as a cause in PCT patients.
Lesions of the optic nerve in idiopathic and multiple sclerosis–related optic
neuritis are similar to the plaques seen in multiple sclerosis of the brain.
In acute optic neuritis, lesions are sharply defined areas of myelin sheath loss
with relative preservation of the axons.
Large numbers of foamy macrophages exist in optic neuritis, with cholesterol
ester droplets and abundant lymphocyte and plasma cell accumulations.
As optic neuritus progresses, the numbers of lymphocytes, plasma cells, and macrophages diminish, and astrocytic scar formation occurs.
Various genetic and environmental factors are presumed to predispose patients to
demyelination as an autoimmune response. The porphyrias are one of those genetic factors.
Viral or bacterial infection, stress, and systemic antigens and metabolites have
been proposed as possible initiating events that result in autoreactive antibodies
and T cells crossing the blood brain barrier and injuring myelin.
Caucasians of northern European descent are affected with optic neuritis 8 times more frequently than blacks and Asians.
Whites of Mediterranean ancestry are at intermediate risk. African blacks and Asians rarely are affected.
These statistical findings parallel those findings of the acute porphyrias.
Loss of vision and eye pain are most prevalent findings of optic neuritis in the
Treatment of optic neuritis continues to be controversial among eye specialists.
MRI is the imaging evaluation of choice in the workup of optic neuritis. Lesions frequently enhance following IV contrast administration.
Types of contrast materials must be reviewed before administration to an acute porphyria patient to maintain safety to the patient.
Primary Care Physicians often are the first clinicians to evaluate patients with optic neuritis.
Referral to Ophthalmologists is generally undertaken, however it has been found that
most Ophthalmologists have very little if any understanding of the porphyrias.
Brian Soptkoff PA
Methyl Bromide as Probable Trigger
Porphyria patients always need to be careful of exposure to herbicides, pesticides and fungicides.
DDT and marathion have long been known as hazards to avoid.
Another chemical compound to avoid is that of Methyl bromide.
Methyl bromide is a potent nerve toxin that is extremely dangerous to people and
EPA classifies Methyl Bromide as a Toxicity Category I toxin.
In addition Methyl bromide has caused birth defects and damage to the brain and
the CNS [central nervous system] in studies performed on laboratory animals.
Methyl bromide also depletes the Earth's protective ozone layer.
This substance is now scheduled to be phased out in industrialized countries in
But of course the harmful substance will still pose a threat to Third World
Methyl bromide is widely used across California and other parts of the west to
grow strawberries, grapes and other crops. In past years California used nearly
14 million pounds of methyl bromide, making it one of the largest methyl bromide-using regions in the world.
The product is used by fumigation application.
Therefore porphyria patients living near or in these areas need to exercise extreme caution.
Methyl bromide can drift more than 300 feet from fumigation sites.
To protect farmworkers working near fumigated fields scientists have shown that
there should be a buffer zone at least 190 feet to adequately protect workers
from short-term exposure of methyl bromide.
Under an upcoming international ozone protection treaty, methyl bromide use in the
United States and other industrialized countries will be reduced by 50% in 2001,
70% in 2003 and fully banned in 2005.
In years past the wide spread use of DDT, chlordane and malathion caused a wide
array of health problems.
The current list of chemical toxins that are used widely which can trigger porphyria attacks keeps on growing.
As a porphyria patient you must become acutely aware of the potential damaging chemical toxins that you may be exposed to.
Robert Short, PhD
The EMG in Porphyria PN Diagnosis
For determing Peripheral Neuropathy [PN] a testing by a neurologist must be done.
First there is the simple pin sticking checking for nerve impulse.
Then the rubber tipped hammer to check for tendon reflexes.
Then the biggie... an EMG [Electromyography].
Electromyography is a diagnostic neurolic test to study the potential [electrically measured activity] of muscle at rest, the reaction to contraction, and the response of muscle to insertion of a needle.
The test is an aid in ascertaining whether a patient's illness is directly affecting the spinal cord, muscles or peripheral nerves.
How is the test performed?
The patient lies at rest while the peripheral nerves in various are stimulated through electrodes, and the electrical activity in the muscle at rest, on insertion of the needle, and during the muscle contraction.
The test is sometimes employed as a measure of the muscle tension produced by nercous stress, usually, the muscles of the forehead are tested, since they can indicate relaxation of generalized body tension.
Electromyoneurogra[hy is the combined use of electromyography and neurography
The two tests offer a more precise means of finding the exact location of nerve damage or disorder.
Dynomometry testing uses a dynomometer [most often a dial guage attached to a spring mechanism that measures the strength of muscles] to ascertain certain physical abilities such as holding an object in the hand.
It helps detect diseases of the nerves from the spinal cord to the muscle.
There is negligible risk factor in running this test.
All that is involved is the catheter and needle insertion along with the elctrical instruments.
The pain and discomfort from the test focuses on the needle insertion, which is usually done without local anesthesia.
This can be quite uncomfortable and at times even very painful.
Intrepretation of the tests must be made by a neurologist. In the normal values,
when the muscle is at rest, no electrical activity is observed.
When the muscles contract, the elctromyograph will show a smooth graphic wavelike respresentation of ech contraction.
The graph lines are amplified with the increase in strength of each contraction.
When the values are abnormal,muscle disease will produce a spiked wave pattern.
The shape of the spike depends on the particular disease.
Muscle weakness produces a diminished wave. With myasthenia gravis, for instance,
the waves disappear for a few minutes.
Nerve involvement, as aooposed to muscle involvement, usually shows a decreased
frequency of contractions.
Current costs of this test runs from $150 to $350 depending on how many muscles or
nerves are tested.
If all of the extremities are tested, the fee can run to $650. Also, when elctromyoneurolography is used the total cost can run to around $500.
Neurologist consider the test quite reliable and rate it as 90 percent accurate.
As stated by a neurologist, "it is quite quite difficult for a pretender /malingerer
to fake to have muscle pathology when muscles respond to electric stimulation.
Rafael Fayette PA
Latex Allergy Clinical Manifestations
There are increasing numbers of people affected by latex allergies today.
There are three main types of latex sensitivity reactions.
Irritant contact dermatitis which is called nonimmune.
This type of reaction has a gradual onset.
It will often take several days to set in, and it is caused by accelerators and
chemicals used in the latex glove manufacturing.
The symptoms of such a latex reaction can include redness, cracks, fissures, and
Another type is that of allergic contact dermatitis.
There is also a delayed hypersensitivity, which has an onset 6 to 48 hours after
Another name for this reaction is "Type 4".
Symptoms of latex allergy , which are also caused by the accelerators and chemicals, include erythema, vesicles, papules, pruritus, blisters, and crusting.
Lesions caused by latex allergy can resemble those caused by poison ivy or
Approximately 80 percent of the immunologic reactions are type 4.
The third type of reaction is immediate hypersensitivity, or type 1-IgE mediated
reaction, which is caused by the latex proteins.
Its onset occurs within minutes and rarely lasts longer than 2 hours.
These symptoms include local and generalized urticaria, light-headedness,
angioedema, nausea, vomiting, abdominal cramps, rhinoconjunctivitis, bronchospasm,
and anaphylactic shock.
It has been clinically found that it is possible to have used latex for years
without problems and suddenly progress to systemic symptoms.
Anaphylactic reactions to latex have been reported in persons who had previously experienced only irritant or allergic contact dermatitis.
For porphyric patients the exacerbation of reactions can increase dramatically and can triggers porphyric attacks as well.
Because any product containing latex can trigger a reaction,
cautious investigation of products at home, in the workplace, and at sites of
medical and dental care should occur.
A thorough medical history is the cornerstone of the diagnosis of latex allergy.
The patient should be asked about occupational and other risk
Furthermore, the history should determine whether previous
reactions have occurred and, if so, what type of reactions.
In the past it has been too often the case that patients with latex reactions
were dismissed because a diagnosis could not be made or a trigger ascertained.
A history of reactivity to foods, symptoms following use of a
rubber condom or diaphragm, or symptoms associated with pelvic examination should
raise the suspicion of latex sensitivity .
Standardized extracts for skin-prick testing are not readily
available in the United States.
Because such testing can cause an anaphylactic response,
these tests should be conducted only at centers that have staff experienced in
Acute systemic reactions to latex should be treated in the same manner as any
The airway, breathing, and circulation are assessed, oxygen is provided, and
epinephrine and steroids are administered.
Diphenhydramine (Benadryl) can be used for urticarial reactions, however in
porphyric patients this choice of drug should be used only as a last resort.
Dr.Ernesto Gonzales MD
Pharmacology & Toxicology