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 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.
Autosomal Terminology in the Porphyrias
When a newly diagonosewd porphyria patient begins to read about their particular
type of porphyria there is always a lot of unfamiliar terminology with which the
patient is confronted. The term "autosomal" is one such word that is always found
in the descriptions of the various forms of porphyria.
Autosomal refers to a pattern of inheritance attributed to genes. There are both
"autosomal dominant" and "autosoma; recessive" inheritance patterns.
Autosomal recessive inheritance is marked by the primary feature that two copies
of an altered gene are located on one of the autosomes. Autosomes are not the X or
The altered gene must be present for an individual to be affected with the trait
or condition determined by that gene.
In the autosomal recessive pattern of inheritance, an affected individual
(homozygote) will have two parents who are unaffected. It is important however
to note that while the parents are not affected, each parent carries the
altered gene (heterozygote).
The incidence of this genetic happening when two heterozygotes, or carriers,
join together and having an affected child is 25%. This means there is a one in
four chance for each child that they have; similarly, there is a 3 in 4 chance
that each child will not be affected.
In autosomal recessive inheritance patterns males and females are at equal risk
for being affected.
It is also important to note that two affected individuals usually produce
children all of whom are affected as well.
In the "autosomal dominant" inheritance pattern an affected individual possesses
one copy of a mutant allele and one normal allele which is different from the
recessive pattern which requires that the individual have two copies of the
Individuals with autosomal dominant diseases have a 50-50 chance of passing the
porphyria mutation onto their children. This occurs in several autosomal domonant
Michael Braithwaite, Ph.D.
Eating Right is Essential in Porphyria
I am a porphyria patient as well as a registered dietician. Often I am consulted
by porphyria patients in relation to their dietary intake. What is safe? What
should I avoid? Why does this do that? And, so on.
First of all, in porphyria, it is necessary to remember what works for one does
not necessarily work for another porphyric patient. This is true in pharmaceuticals,
treatments, exacerbations of symptoms and it is also true in what we eat.
However there are a few basics that need to be remembered.
All alcoholic beverages should be avoided by porphyric patients. Alcohol
stimulates the heme biosynthetic pathway in the liver. Alcohol can in and by
itself exacerbate porphyria. Medical drugs books list alcohol as being
contraindicated for porphyrics. Alcohol has other harmful effects, such as l;iver
destruction, and can lead to weight gain.
Fiber intake should be about 40 grams per day. High dietary fiber intakes should
be avoided in patients with upper gastrointestinal problems. The reason for this
is because sometimes excess fiber can accumulate in the form of "bezoars." Also
the increasing of dietary fiber intake sometimes causes abdominal cramping,
diarrhea and flatulence. These can be minimized by increasing fiber intake
Foods contain many natural chemicals that can stimulate the heme biosynthetic
pathway. Although none have been definitely linked to attacks of porphyria, the
possibility that these chemicals might contribute should be kept in mind
especially when attacks of porphyria recur in the absence of a definite inciting
factor. These foods are considered porphyrinogenic.
Some other dietary factors that may have an adverse effect on porphyria include
charcoal-broiled meats. Charcoal broiled foods often contain chemicals similar to
those found in cigarette smoke, including the formaldehyde component which has
proven harmful to most porphyria patients.
And you mother always told you to eat you vegetables! Certain vegetables and
specifically cabbage, brussel sprouts, and red grapes, often contain chemicals
that in large amounts can stimulate heme and porphyrin synthesis.
Another area of real concern are foods containing sulfites. Learn to read labels
and to avoid these items.
A porphyric will also want to avoid high intakes of protein. Most likely, none of
these foods need to be completely avoided in porphyria.
One should also remember that tomatoes contain a high amount of sulphur, and that
sulphur is contraindicated in porphyrics. Tomatoes can be eaten, but in moderation
It should also be noted that they may be contraindicated due to aggravation of
cutaneous symptoms of porphyria.
Red meats should be avoided because of the high use of steroids and other
chemicals in the raising of beef.
Particles of insecticides along with heavy metal toxins are stored in the liver.
Eating liver should be avoided especially from wild game and poultry.
In order to avoid insecticides in green vegetables and root vegetables, always
peel and rinse them properly. Potatoes should be peeled before cooking. If you
have diabetes along with porphyria, you may want to substitute other carbohydrates
in place of large amounts of potatoes, as potatoes are known to elevated blood
Only fruits that are not sprayed should be eaten without peeling, peel all other
fruits. And for those with fragile skin or blistering on the hands, gloves should
be worn when peeling fruit as the juices can cause itching and burning of the
And for overall preventive nutrition, a minimum of 350 grams of carbohydrate
should be ingested daily. During onset of attacks it is essential to consume and
if necessary infuse glucose to reach a minimum of 400-500 grams of carbohydrate.
Dieting to loose weight as a porphyric, can be done, but never through extremely
low caloric intake. Low carbohydrate or energy intake is one of the more
well known triggers of acute porphyria.
Sheryl Wilson [HCP], MSN, RD
Experimental Vitamin B6 Use May Possibly Lead to Toxicity
During the past several months many porphyria patients in growing numbers have
reportedly been experimenting with the use of vitamin B6 or the p5p regimen.
It has long been known the the ingestion of megadoses (2 to 6 g/day for 2 to 40
mo) of pyridoxine, may cause progressive sensory ataxia. In addition it can
cause profound lower limb impairment of position and vibration sense.
With extra doses of pyridoxine the senses of touch, temperature, and pain are
less affected. However it is important to refrain from "extra dosing" with
vitamins because vitamin intake is delicately balanced and taking too much of
one will alter the benefits of other vitamins, while at the same time build up
toxicity within a person. Chemical changes in the normally healthy person can
caus toxicity, and in the porphyric person such chemical imbalances can pose far
greater problems of concern.
The motor and central nervous systems of a porphyria patients are all ready
under attack. Causing chemical toxicity in addition to the symptoms of porphyria
should be avoided.
Chemical toxicity in normally healthy persons is a slow recovery process. In some
cases it is a very slow process and recovery may only be partial after pyridoxine
ingestion is stopped. In a porphyria patients the damage can be even more severe
and damage may become permanent.
It is apparent why porphyria patients will want to try fads, because they are
carriers of an uncurable disease. However, such fads are only fads until years of
investigative research, clinical trials and FDA approval has been untaken. Most
vitamins and herbal medicines are largely unresearched.
Jeff Dnniels, PhD.
Molecular Biology & Alternative Medicine
CEP Porphyria Type Better Known as Gunther's Disease
Gunther's Disease is another name for one of the main forms of porphyria, that of
CEP. (Congenital Erythropoietic Porphyria).
In some medical literature this rare autosomal recessive disease is referred to as
Erythropoietic Porphyria or Congenital Porphyria. In the more scientific and
older studies and writings on the porphyrias CEP is referred to as Congenital
Hematoporphyria or Erythropoietic Uroporphyria.
CEP is usually a severe disorder. Gunther's Disease results from a deficiency
of uroporphyrinogen III cosynthase biochemically.
Today there are fewer than 200 known cases of congenital erythropoietic porphyria
(CEP) which have been reported with a confirmed diagnosis.
Gunther's Disease crosses all racial lines and is found in both sexes.
An interesting point to note is that CEP occurs rarely in cattle herds and is
believed to be in other animals as well, including fox squirrels.
The main treatment in CEP is the strict avoidance of sunlight. traumas to the
skin, and infections which might hamper care in CEP.
Various forms of treatments have been used, some better than others. The most
promising treatment is that of binding porphyrins to charcoal. Charcoal treatment
for a period of nine months has been found to lower levels of porphyrins in the
both the plasma and in the skin.
PES 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 judgment 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.
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.
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.
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.