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Porphyria Educational Services
Monthly Newsletter
January 2004

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.

Reducing Stress Stragegies

It is a known factor that too much stress can help trigger acute attacks of porphyria.
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 waking moment.

(6)Get organized.
Organize your home and work space so that you know where things are.
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.
This means 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 week.

(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
Neuropsychiatric Medicine

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 late.
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.
Ultrasound (ultrasonography).
Computerized tomography (CT) scan.
Magnetic resonance imaging (MRI).
Liver scan.
Liver biopsy.
Blood tests.
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 HCC.

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 porphyria patients.

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.