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.
Reducing Stress Stragegies
It is a known factor that too much stress can help trigger acute attacks of
WHile there are both positive as well as the negative stress, we
all need to learn to reduce the negative stress in our lives.
For the acute porphyria patient, stress reduction is critical.
Some strategies for reducing negative stress include the following:
(1) Planning ahead. Always plan your day regardless if you are
experiencing a porphyric episode or are in remission.
By planning your day, this can help a person feel more in control of their life.
(2) Getting up earlier to get things done before the hectic morning rush is important
By doing unpleasant tasks early in the day a person will be
done with those tasks.
(3)Always keep a written schedule of your daily activities so that you're not faced with conflicts or last-minute rushes. This is always important for porphyria patients because of accidential chemical exposures triggering an attack, or because of a
neuropathy pain flare-up that can happen at any time.
(4)It is important for the individual person to decide what they can do now and what can wait.
Simplify your schedule.
The porphyria patient must prioritize, plan and pace themself.
(5) Learn to delegate responsibility to others at home and at work. Say no to added responsibilities or commitments if you're not up to doing them.
Especially important is not to feel guilty if you aren't productive every
Organize your home and work space so that you know where things
Keep your house, car and personal belongings in working order to prevent
untimely and stressful repairs.
Being organized also means having your personal binder with
all of your porphyria medical data contained within.
a simplified process of being admitted to the hospital when needed.
It means maintaining an up-to-date listing of current medications as well as a current unsafe drug list, copies of
diagnosis, standing orders, brief medical history, insurance
information, and a brief descrption of porphyria and your
type and therapy protocol.
(7) In reducing stress it is important to take time to relax, stretch or walk periodically during the day. This is excellent therapy for
PN associated with porphyria.
(8) Exercise regularly. Again exercise is important to controlling PN and pain.
Regular physical activity helps loosen your muscles and relieves emotional
intensity. Try to exercise for a total of at least 30 minutes most days of the
(9) Sleep is essential. Get enough sleep. This can give you the energy you need to
face each day.
(10) Remember your nutrition. Eat well. Be sure that your diet contains a good mixture of carbohydrates, especially complex carbohydrates.
(11) Change the pace. Occasionally break away from your routine and explore new
territory without a schedule. Take a vacation
even if it is only for a day.
(12)Allow for time for social engagements. Being with others can
allow a person to be "other focused" for a period of time. It can be uplifting
to one's spirit and lifting of one's mood, which is especially fragile
in acute porphyria.
(13) Be positive.
Avoid negative self-talk.
Spend time with people who have a positive outlook and a sense of humor.
Remember that laughter actually helps ease pain.
Laughter is known to release endorphins which are chemicals in your brain that give you a sense of well-being.
(14) Keep yourself connected to a support system.Recognize when you need the support of family and friends. Talking about your
problems with others can often relieve pent-up emotions and lead to solutions you hadn't thought of on your own.
(15) Be hopeful. "Rome was not built in a day" and neither will the
cure for porphyria. Remember that just a few decades ago most porphyria types
had not been identified, and that there have been many breakthroughs in porphyria research, and tomorrow is even more promising.
Dr. Kenneth Carlson
HCC Screening and Diagnosis in Porphyria
Detecting HCC in a timely fashion whereby treatment can begin is not simple.
HCC is short for Hepatocellular carcinoma.
No completely accurate screening test for liver cancer exists.
Oftentimes victims of HCC do not realize that anything is wrong until it is too
WIth porphyria patients and HCC it is a little different. Both PCT and AIP patients who are aware of their porphyria diagnosis are made aware of the high probability of HCC.
A blood test that checks for the presence of alpha-fetoprotein (AFP) is sometimes
used to screen people at high risk of the disease. This includes all AIP patients.
Unfortunately, the test isn't perfect. The reason for this is because not all
malignant liver tumors produce AFP. In addition, those that do may be advanced by
the time protein levels become elevated.
Another problem is detecting HCC is that other types of cancer and even some noncancerous liver diseases can raise AFP levels.
Although AFP screening can detect small tumors in some people, most liver cancer
isn't diagnosed early. That's because symptoms usually don't appear until late in
the disease and because liver cancers grow quickly.
HCC is the most common type of liver cancer.
Hepatocellular carcinoma, doubles in size every 4 months.
Diagnosis is also difficult because the effects of some liver tumors may resemble
those of other medical conditions.
If you experience any of the symptoms of liver cancer, such
as unexplained weight loss, persistent abdominal pain other than the basic porphyria abdominal pain, or if you have swelling or jaundice, these conditions must be immediately made known to your physician.
One or more of the following tests will most likely be ordered for you in
determining the cause of your symptoms.
Computerized tomography (CT) scan.
Magnetic resonance imaging (MRI).
If any of these tests reveal you have liver cancer, your
doctor may perform additional blood tests to check
the condition of the liver tissue not affected by
Rosemary Jenkins MSN, FNP
HEmatology & Oncology
Peripheral Neuropathy and Porphyria
Acute porphyria patients are faced with an array of signs and symptoms. Of these
medical conditions includes porphyric peripheral neuropathy.
Peripheral neuropathy is one of the neurologic symptoms that
can and does present in persons that have one of the forms of acute porphyria.
Neurologic symptoms occur in the central nervous system (CNS).
The CNS consists of the brain and spinal cord and the peripheral nervous system (PNS) , which links the spinal cord to all other parts of your body.
The extensive network of peripheral nerves helps the muscles contract. These nerves
are better known as the motor nerves.
The motor nerves allow a person to feel a range of sensations
which are known as sensory nerves.
Another job of the peripheral nerves is to help control some of the involuntary
functions of the autonomic nervous system.
The peripheral nerves are fragile and easily damaged. Nerve
damage from PN can affect the ability to move certain muscles
or feel normal sensations.
PN symptoms will depend on what is causing the neuropathy and on which nerve or
nerves are involved.
WHen there is sensory nerve is damage, a porphyria patient most likely will
experience pain, numbness, tingling, burning or a loss of feeling.
PN symptoms often begin gradually.
A porphyria patient beginiing to experience PN may have a tingling sensation or
numbness that starts in the toes or the balls of their feet and spreads upward.
Another onset of PN may include tingling that may
begin in the hands and extend up into the arms.
In severe PN sometimes the skin is involved. The skin may become so sensitive that the slightest touch is agonizing.
Numbness and deep bone pain are usually the main experiences of porphyric PN.
A porphyria patient may have numbness, or even a complete lack of feeling, in the
hands or feet.
PN can vary greatly. At times your symptoms may be mild and limited. noticeable. Conversely, PN especially at night, may be almost unbearable.
Some porphyria patients find that PN can become chronic. The
symptoms are constant.
There are a wide array of PN symptoms which may include
urinary incontinence, quadrapelgia, respiratory paralysis,
and bulbar paralysis, inability to use the hands, or to walk.
Dr. Maurice Simons
Neurology & ReHabilatation Medicine
What is Phamacogenetics?
The use of the word "pharmacogenetics" was originated in the year 1959.
Coining the word was Friedrich Vogel. Vogel defined the use of the term as the
"study of the role of genetics in drug response."
Pharmacogenetics is one of the most rapidly growing areas and is becoming
increasingly important in clinical pharmacy. For porphyria patients of the acute
hepatic forms, not enough can be said about pharmacogenetics.
The pharmacogenetics of drug-metabolizing enzymes is the main focal point of this field. It is important because genetic makeup is responsible for a significant
portion of drug-induced
toxicity. Such drug toxicity can cause repeated attacks in porphyria patients.
In today's pharmaceutical world, many drugs are metabolized by enzymes that are
encoded by polymorphically expressed genes.
In the field of biochemistry and genetics, genotype analysis can be used to
identify DNA changes in specific metabolic pathways that produce aberrant
phenotypes. Because of this porphyric patients as well as all other people, can
be classified as extensive, intermediate, or poor metabolizers according to their
ability to metabolize certain drugs.
The key feature is how drugs metabolize and that is the key feature in prescribing
pharmaceuticals to acute porphyria patients. For instance it has been well
established that the
cytochrome P-450 drugs often need to be avoided. Early in the identification of
the porphyrias it was recognized that barbiturates needed to be avoided at all
costs. Later the sulfa drugs were so identified.
Pharmocogenetics will enhance the knowledge of the safety of drugs which is so
vital to those who suffer from the porphyrias.
Leonard Hraska R Ph
Pharmacology & Toxicology
Sulfanilamides Must Be Avoided
For porphyria patients, sulfa drugs are well known to be pharmaecuticals to be
avoided at all costs.
A sulfa drug can be any of a class of synthetic chemical substances derived from sulfanilamide, or para-aminobenzenesulfonamide.
Sulfa drugs used to be used exclusively to treat bacterial infections, however
they have largely been replaced by today's use of antibiotics.
Sulfa drugs are also the common name applied to a group of chemotherapeutic
agents that are effective against a number of infectious diseases. Some sulfa
drugs are used in the treatment of diabetes.
Since sulfanilamide first came into use, there have ben more than 150 different derivatives manufactured by pharmaceutical companies.
While sulfanilamide proved effective in arresting various bacterial diseases,
all the sulfa drugs are somewhat toxic, producing blood abnormalities and kidney
damage when indiscriminately used.
Among the most used and prescribed sulfa drugs are sulfapyridine, sulfathiazole, sulfadiazine, sulfaguanidine, sulfamerazine, and sulfasuxidine.
In addiiton to "sulfa" drugs porphyria patients need to be aware of other
chemical substances bearing the prefix "sul" whether it be sulphur, sulphites or
other spellings of the same chemical classification. Be alert and read labels as
well as ask your pharmacists if a prescription contain any sulfa chemical elements.
Jeff McCormack RPh, PhD
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.
NOVA-PROPAMIDE is a brand name for the generic drug
CHLORPROPAMIDE. It is a sulfonylurea. Acquired porphyria cutanea tarda
and photosensitivity have been reported.
Hepatic porphyria reactios have been reported.
This drug is UNSAFE for
PANASOL is a brand name for the generic drug PREDNISONE.
SIDE EFFECTS include: Sodium retention, fluid retention, muscle weakness, and
abdominal. Increases in alanine transaminase (ALT, SGPT), aspartate transaminase
(AST, SGOT) and alkaline phosphatase have been observed.
Other side effects
include decreased carbohydrate tolerance; manifestations of latent diabetes
mellitus. There may be ocular infections.
Average and large doses can cause
elevation of blood pressure, salt and water retention, and increased excretion of potassium. Persons who are on drugs which suppress the immune system are more susceptible to infections than healthy individuals.
There is an enhanced effect
of corticosteroids on patients with hypothyroidism and in those with cirrhosis and
liver disease. It is not recommended for persons with liver disease.