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.
Fuzzy Blurry Eyes Experienced by Many Porphyrics
Fuzzy eyes are often a complaint in the porphyrias involving the CNS. Some
clinicians will go so far as to diagnose the "fuzzy eyes" as optic neuritis.
Most fuzzy eye problems in porphyria are basical vision abnormalities which in
some cases have presented as temporary blindness, decreased vision, or termed
impaired vision or diminished vision.
Fuzzy eyes are the loss of visual acuity or sharpness resulting in unclear
Vision loss is the inability to perceive visual stimuli. Often patients will
liken the fuzzy eyes as watching the snow on television once a channel has left
The spottiness associated with fuzzy eyes are thought to be dark "holes" in the
visual field in which nothing can be seen. Such spots become noticeable to the
patient when the spot is enlarging.
Things for the porphyria patient to remember is that any loss of visual acuity,
should always be evaluated as soon as possible by a medical profesional.
This holds true of any changes in vision, or decreased light perception.
Fuzzy eyes is thus a real warning that needs to be clinically evaluated.
It is important that when you see an eye specialist that you inform the physician
of your diagnosis of porphyria. Other considerations that need to be addressed are
any family history of eye diseases, and any history of diabetes.
Diabetic retinopathyis is always a real possibility with hepatic porphyria
patients as a result of continued high carbohydrate intake.
Migraines frequentl;y are associated with porphyria patients and likewise often
are the cause of fuzzy eye problems.
Any secondary congenital disorders to the porphyria should also be noted.
Some pharmaceuticals are also known to cause fuzzy eyes. Such drugs include the
common phenothiazines, thiazide diuretics, antihistamines, reserpine, and
One of the things porphyria patients can do to help themselves with the fuzzy eye
problems as well as depression, mood change and general weakness is to increase
the amount of light in a room. This does not mean sitting directly in the
sunlight of a window, but allowing the light to illuminate the room. This not
only allows a person to more fully see, but lifts the spirits and causes a person
to feel more physically capable.
Be sure to obtain copies of your visit to an eye specialists and share a copy with
your primary care physician as well as keeping a copy in your personal records
for future reference.
G.A. Brown, P.A.
Ophthalmology & Optometry
Liver Function Tests are Essential in Most Porphyrias
Abnormal levels of hepatic enzymes including ALP may be found in up to 6% in normally
healthy adult individuals. Liver disease will be found only in about 1% of the
In most of the porphyrias liver enzyme testing will be found to be elevated in one
if not all of the results.
Liver function tests or liver anzyme testing, is often used to describe a panel of
laboratory measures of a variety of hepatic enzymes, including serum aminotransferase
(aspartate aminotransferase or AST and alanine aminotransferase or ALT) and alkaline
ALP elevation can be seen in infectious mononucleosis, bile duct obstruction,
hepatitis, heavy alcohol consumption, and fatty liver. (NASH) as well as the
Rather than a measure of hepatic function, these tests evaluate hepatocyte integrity,
as serum levels of these enzymes rise in response to a variety of forms of injury to
In liver anzyme testing, like every other form of testing in the porphyrias minor elevations often
occurs because of improper handling of specimen and delayed testing.
For ALP tests, the ALP may increase in a sample by as much as 5% to 10% after 4 hours
of storage. Timing of the testing is essential as well as the handling of the test collection
and the assaying of the collection.
When an individual has a confirmed diagnosis of a hepatic porphyria, even if the liver enzymes
have fallen back into the normal range after intervention treatment for porphyria,
ongoing monitoring and a repeat measurement in 6-12 months should be undertaken
SGOT, GGT usually parallels changes in ALP in liver disease. The ALP
(alkaline phosphatase) along with an elevation in the GGT confirm the likelihood of a
hepatic disorder and is often found as such in the diagnosis of the hepatic
A common cause of elevations include drug or alcohol-induced liver disease and fatty
liver. The alkaline phosphatase usually returns to normal by the end of 10 weeks
after triggering drugs have been discontinued.
George Lewis, Ph.D.
Sulfite Sensitivity in Porphyria Patients
Sulfites are sulfur based preservatives. Such sulfites are most generally used to
prevent or reduce discoloration of fruits and vegetables. Sulphites are also found
in wine. In addition, sulphites are used to prevent mildew and also to inhibit the
growth of microorganisms in fermented foods.
It is known that many people even among normally healthy individuals are
sulfite-sensitive. This has long been known in association with asthma patients,
but is being realized within the porphyria population as well as those with
There is no specific onset time for a person to become sulfite-sensitive. A person
can develop sulfite sensitivity at different times in life. Moreover to date
medical science does not yet know what triggers the sensitivity.
Sulphites can also be found elsewhere in one's home. Sulfites are also used to
bleach food starches,as well as being used to prevent rust and scale in pipes and
boiler water that is used to steam food. Food wrap is another place that sulphites
People who are sensitive to sulfites experienced difference reactions. The primary
reactions is difficulty in breathing.
In the porphyria patient, the exacerbation can be much worse. Sulfites give off the
gas sulfur dioxide, which can cause irritation in the lungs. Often the breathing
problems associated with this if coupled with other triggers can caused various
negative reactions in porphyrics. Such reactions include nausea, constriction of the
chest, bulbar paralysis, abdominal pain, hives. Some patients experience
Poprhyria patients should be aware that sulfites have a variety of names including
potassium metabisulfite, sodium sulfite, sulfur dioxide, potassium bisulfite,
sodium bisulfite, sodium metabisulfite. All of the aforementioned are dry chemical
forms of the sulfur dioxide, a gas.
Rod Stephens, Ph.D.
Bio-Chemistry & Toxicology
Nausea and Vomiting Key Symptoms in Acute Attacks
Abdominal pain in the acute porphyrias is the most commonly experienced symptom,
and most often it is closely followed with nausea and then vomiting.
When a person is showing signs of a pending porphyria attack quite often they will
notice stomach upset, sometimes feel a little light-headed, a tinge of nausea which
will later turn into vomiting.
Nausea is the sensation leading to the urgency to vomit. To vomit is to force the
contents of the stomach up through the esophagus and out of the mouth. Women often
refer to the sensations as a series of contractions
In porphyria one of the biggest problems stemming from vomiting and/or diarrahea is
that of dehydration...Dehydration is the biggest concern in most vomiting episodes.
The rate with which dehydration takes place depends on a number of various factors.
One factor is the size of the person, and another factor is the frequency of the
vomiting. In cases where diarrhea is also present, the rate of dehydration will
Signs of dehydration are increased thirst, infrequent urination or dark yellow urine,
dry mouth, eyes that appear sunken, crying without tears, and skin that has lost its
When the cause of nausea and vomiting is known, it is important to treat the
underlying disorder. In porphyria it is most often the porphyria
attack in it's onset stage.
Whatever the cause, it is important for the person who has vomited a great deal to
take in as much fluid as possible without upsetting the stomach any further. Sip
clear fluids such as water, ginger ale, fruit juices, or Gatorade. In porphyria it is
also important to have the electrolytes checked because often potassium levels will
fall below normal levels. Electrolytes can be checked in a simple blood test such as
a CBC including electrolytes.
For some porphyria patients who have continuously low levels of potassium during
attacks it is important to have potassium supplementation along with the glucose or
other intravenous fluids.
Many porphyria patients with a history of vomiting during onset of attacks elect to
control nausea and use compazine or zofran as an intervention during times of
probably acute attacks.
Leslie Sinclaire, MNS, NP
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.
OXYCODAN 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.
OXYCODAN 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.