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.
Vitamin C and Porphyria
Porphyrin loss of hydrogens from the porphyrinogens generally turns them into porphyrins.
These are the cause of the porphyrias.
Hydrogen or electron donors, such as vitamin C, are believed to inhibit the transformation of porphyrinogens to porphyrins.
Also, vitamin C will facilitate the conversion of the products to cytochromes.
Another name for Vitamin C is that of ascorbic acid.
There is also the conversion to hemoglobin, reducing the buildup of intermediate products in the above pathway.
Some forms of porphyria are believed to involve the mitochondria.
This causes a reduction in energy conversion.
This can cause a spirt of chronic fatigue.
Many porphyrics talk about having chronic fatigue.
One of the things to be aware of in the use of large amounts of vitamin C is that Vitamin C is thought to be one of the causes of kidney stones.
Researchers think that anything in excess of 1,000 grams of ascorbic acid in one day may lead to the production of kidney stones.
It is interesting to note that porphyria patients sometimes talk about losing salt or craving salt.
Salt is conserved in the kidneys by the exchange of the sodium ions for hydrogen ions.
During every acute attack it is important to be sure that you maintain your electrolyte balance.
Sodium is a part of that electrolyte balance.
One may consider that as sodium levels decrease, additional stress is placed on the hydrogen ion sources.
This will cause an increase in the generation of susceptible individuals.
One such stress may be the need to generate more cytochromes during exposure to environmental toxins or therapy with inappropriate pharmaceuticals.
Studies show that about one -fifth of all pharmaceuticals are detoxified by the cytochromes.
This will then place additional burdens upon the porphyrin related pathways.
So the bottom line is that individuals with porphyria may be seriously harmed by doctors without specific training and information related to porphyria.
Be sure to interview physicians before you allow any testing or consultation.
Most will allow a short interview.
Be specific and ask the right questions geared at your specific needs.
Not all porphyria victims report benefit from high doses of vitamin C, but there are often other issues involved, such as yeast infections.
Many women porphyrics have expressed the burden of the continuous strong yeast infections.
These other conditions need to be addressed before benefits of high dose (bowel tolerance) vitamin C therapy can become evident.
Yeasts are a particular problem.
When a porphyria patient utilizes a high carbohydrate it can at the same time encourage yeast overgrowth.
Sometimes various C Salts are useful.
If one listens to what one's body is saying, one stands a better chance of doing the right thing.
Porphyria patients often report that doctors, particularly those in HMO's, are not well versed, and sometimes appear unwilling to run all the proper tests to confirm a diagnosis of porphyria.
Even in private care, misdiagnosis and improper treatments are not uncommon.
Indeed as many porphyria patients say improper and often dangerous treatments are the rule, not the exception, when dealing with doctors who have no special training for dealing with porphyria.
Unfortunately for porphyria patients a great majority of physicians still do not know about this disease.
As porphyria patients, each of us must take personal responsibility in sharing all porphyria information with the physicians who treat us.
Through such exchanging of ideas comes knowledge and eventually help for the porphyric patient!
Jennifer Martinsen MNS, RD
Nutrition & Metabolic Disease
Delta-ALA in Porphyria Diagnosis
Delta-aminolevulinic acid is most important in the early detection of the porphyrias.
The Delta-aminolevulinic acid test is designed to measure the amount of delta-ALA in urine. This test is most often the second main line test to be performed when a person is suspected of having porphyria.
Delta-aminolevulinic acid testing requires a 24-hour urine sample.
Such testing can even be performed on an infant.
In Delta-aminolevulinic acid testing avoid exposure of the urine to direct light. Any exposure to light or air can significantly reduce the porphyrin count and render the test colection compromise and useless.
Likewise, in Delta-aminolevulinic acid testing you must always cap the container.
Keep the collection container in the refrigerator or a cool place during the collection period.
For best results such refrigeration should run between 36 and 40 degrees F.
No special preparation is necessary for Delta-aminolevulinic acid testing.
Deliver it to the laboratory or your health care provider as soon as possible upon completion.
Delta-aminolevulinic acid testing is useful in detecting the amount of Delta-ALA in the urine.
Delta-ALA, a protein produced by the liver, is increased when another protein (an enzyme), has reduced function.
This may lead to a type of metabolic disorder called Porphyria.
The various porphyrias are resultant of various enzyme abnormalities in the heme pathway.
Increased levels of urinary delta-ALA are usually indicative of several types of porphyria or in some cases lead poisoning.
It is also not uncommon to have decreased levels of dealta-ALA in persons with chronic liver disease other than porphyria.
Several pharmaceuticals are known to increase the Delta-ALA. Such drugs include penicillin, barbiturates, oral contraceptives, and griseofulvin, an anti-fungal medication.
With the exception of penicillin, all of the pharmaceuticals listed are also known to induce the acute porphyrias and some to excerbate PCT.
James Purcell PhD
Avoiding PN in Porphyria
The best way to prevent peripheral neuropathy is to carefully manage any medical condition that puts you at risk.
That means avoiding triggers of the acute porphyrias.
For those porphyria patients with the co-existing diabetes II, controlling your blood sugar levels is most important.
For PCT patients who have alcohol as a trigger, the PCT patient should talk to their primary care physician about safe and effective treatments.
Good nutrition is essential in avoiding PN.
Eating a healthy diet thatís rich in fruits, vegetables, whole grains and lean protein is a definite plus.
The best food sources of vitamin B-12 are meats, fish, eggs and low-fat dairy foods. B-12 is essential in nutritional intake.
Avoiding toxic chemicals which may cause nerve damage is also essential.
Marilyn George MNS
Porphyringenic chemicals and pharmaceuticals
Nearly 3,800 various chemicals in use today have been researched and found to be porphyringenic.
This is a serious problem for many porphyria patients.
Many porphyria patients, have found themselves with a high degree of sensitivity to a large variety of chemical toxins.
Such chemicals which are porphyringenic interefere with the human body's ability to send oxygen to it's various parts.
Such oxygen is sent around the body through the hemoglobin which is made up of heme.
The heme in the liver is most necessary for producing the needed cytochrome P-450.
Dr. David Flockard of Indiana University is one of the foremost researchers of pharmaceuticals which are cytochrome P-450.
The Cyctochrome P-450 function in the body is most vital in the detoxification of pharmaceuticals and other chemicals.
When porphhyria patients are exposed to drugs and chemicals which are considered unsafe, that adversely effects the cyctochrome P-450 production.
These chemicals and drugs are known as being porphyrinogenic.
It must be noted that there are a large number of porphyrinogenic chemicals and drugs that people are exposed to daily.
Foremost are the sulpher containing components.
Included are all of the sulfonamides and the sulfonylureas.
Another one is that of vinyl derivatrives which are found in many of today's household and office products.
Other harder to detect substances include cyanine dyes, aldehydes, benzene derivatives, acetylenes, aluminum, heavy metals, and a host of others.
Some of the chemicals not only produce a porphyrogenic result, but go on to produce a porphyrin enzyme triggering defect.
When such a defect has been triggered in a porphyria patient, whether they have inherited or acquired porphyria, such a defect can not be reversed.
With such a defect established any exposure, even a slight amount to any of the unsafe chemicals or pharmaceuticals can go on to exacerbate into an full blown porphyria attack.
Other chemical toxins while in themselves will not cause an enzyme defect, will however tend to exacerbate porphyria symptoms if a porphyrin enzyme defect is in place.
For those who frequent the highways and are caught in rush hour traffic, especially during the winter months when exhaust fumes tend to hang low over the roadways,
remember to close vents on your windows and have all windows closed.
Prolonged exposure to carbon monoxide in normally healthy people can cause nausea and headaches, but for those with porphyria enzyme defects the toll can be far greater.
JoEllen Sommerfield PhD
Professor of Biochemistry
Neuropsychological Aspects of Porphyria
While care to avoid relapses of remission in patients diagnosed with acute porphyrias and the improved glucose protocol for intervention therapy during acute attacks have reduced the mortality of porphyria patients considerably
over the last decade, there are still problems with the neurological aspects of porphyria.
When porphyria patients are in remision there are usually little or no neuropsychological problems except in patients with a long history of acute attacks and of course in those who have a chronic prognosis.
The three main types of porphyria that give rise to neuropsychiatric disorders include the acute intermittent porphyria [AIP], variegate porphyria [VP] and the heriditary coproporphyria [HEP].
In a medical publication entitled "The Little Imitator" written by
H.L. Crimlisk, of the Department of Neuropsychiatry at the Institute of Neurology in London, England, the author states that nerological or psychiatric symptoms occur in most acute attacks.
While true of symptomology of earlier years, today these neuropsychological symptomologies can be treated early on, by porphyric patients learning to be "in tune" with their mind and bodily functions.
The early use of propranolol, adequate rest, control of seizures, nausea and vomiting and lab tests checking electrolyte balance, all can correct if not inhibit the neuropsychological problems of earlier etiology
of acute attacks.
In times past many porphyria patients experience
bizarre psychological behavior and often would be hospitalized in neuropsychological wards due to the behavior rather than the treatment of the porphyria.
The management of patients with porphyria and the psychiatric symptoms do cause considerable problems unless the porphyria is actively addressed first and foremost.
This calls for adequate testing and diagnosis.
With a confirmed diagnosis today a porphyria patient can undergo PREVENTATIVE treatments which most usually can be administered at home and alleviate the necessity of triggering attacks which require costly hospitalization for observation and INTERVENTION treatments of either glucose or heme.
Such preventative treatment when shown to be cost effective, are usually handled under "case management" of most major medical insurers.
While the physical medical treatment and care is much better for the porphyric patient, so too is the neuropsychological.
Avoiding acute attacks means avoiding the chances of neuropsyhcological impairments and exercerbations.
In the earlier days many porphyria patients were institutionalized due to the neuropsychological aspects of their disease, thus accounting for the early day large porphyria populations in mental institutions.
Today however with the advances in molecular biology which permit the identification of porphyria patients early on, in both acute and latent carriers alike within a family, acute attacks can be avoided for the most part.
This means that the neuropsychological elements
of the acute porphyrias can be addressed as well and for the most part treated in advance, with little or no permanency.
Dr. Kenneth Carlson