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Porphyria Educational Services
Monthly Newsletter
April 2003

Disclaimer
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.


Hardeoporphyria One of Latest Identified Porphyrias.

Hardeoporphyria is one of the latest identified forms of the acute hepatic porphyrias. In the early 1990's medical resaearchers were able to identify the molecular defect which is the basis of Hardeoporphyria.

Hardeoporphyria is found to be a molecular defect in coproporphyrinogen oxidase gene which is normally associated with (HCP) hereditary coproporphyria. The Hardeoporphyria is thus a variant form of hereditary coproporphyria (HCP)

Many of the top porphyria researchers worldwide have looked at the mutation which is unique and while shared the HCP gene, is clearly a separate and variant form of HCP.

Hardeoporphyria is an acute hepatic porphyria with autosomal dominant inheritance caused by a deficient activity of coproporphyrinogen IX oxidase (CPX).

Harderoporphyria, is a homozygous variant form of coproporphyria. Hardeoporphyria is characterized by a massive excretion of harderoporphyrin and a more marked decrease of coproporphyrinogen IX oxidase activity than found in HCP.

In some scientific studies of hardeoporphyria, it has been found that the transmission of the disease was autosomal recessive.

In some DNA studies it has been found that Hardeoporphyria demonstrates that amino acid substitution has been responsible for the important decrease in the enzyme activity and for the accumulation of harderoporphyrin.

Michael Braithwaite, Ph.D.
Genetics



Pharmacogenetics Promising for Porphyria Patients

Pharmacogenetics holds a lot of promise for porphyria sufferers and others with metabolic inherited diseases.

In porphyria there has always been the question as to why some patients respond to drugs while other porphyria patients do not. Some porphyria patients will not feel any toxic effect while another porphyria patient of the same type of porphyria will have a life-threatening reaction.

It has been found that the genetic makeup of each person is what determines the individual response to the use of various drugs. One porphyria patient may have genes which are coded to tell the body to quickly and efficiently absorb drugs. At the same time such coding will also tell them to eliminate them as soon as possible.

On-the-other-hand, the second porphyria patient may have the genetic commands to instruct the body to slowly absorb and release its ingestibles. By this command it causes lingering and toxic effects studies have found.

Through the use of the new science of pharmacogenetics, the utilization of a person's DNA to create medications that best respond to their genetic makeup.

Once pharmacogenetics is "up and running" pharmacogenetics is expected to replace the current "one size fits all" approach to medications.

Medical researchers working with this new approach predict that medications will soon be prescribed based on the unique combination of safety, toxicity and efficacy that is the most compatible with the patient's genetic uniqueness, thereby avoiding the use of drugs that have plagued patients with horrible side effects, and in same cases death.

Pharmacogenetics is most promising and will greatly enhance the day-to-day quality of life for poprhyria patients who are daily facing the question of the safety of pharmaceuticals.

Robert Johnson M.D.
Retired Clinician



Nursing Considerations for Acute Porphyria Patients

No one wants to go to a hospital. Most porphyria patrients find only frustration when they present to a hospital.

Hospitalization for a porphyria patient is poor at best because so many medical professionals have a basic lack of understanding about porphyria, if they have ever heard of it in the first place. And then there is the hoopla and ongoing myths that circulate around the mysterious porphyrias. Television, print media, talk shows, and even the mystique surrounding various members of the royal families, "paints bizarre picturs" of the disease.

And it does not help that for several decades the porphyrias were thought to be a mental disease and countless porphyrics were institutionalized in homes for the insane. Thankfully that for the most part, physicians who have a rough understanding of porphyria know it to be the inherited metabolic disease that it is which can produce mental changes, but is not a psychiatric disease.

So today it is better than anytime previously for porphyrics to be admitted to a hospital, but yet basic ignorance still abounds. Therefore quite often a porphyria patient waits to be admitted until they can no longer handle the acute attack.

Acute attacks often carry with them extreme pain. Pain is the most often reason for seeking admission, followed by nausea and vomiting, and peripheral neuropathy.

They experience a sense of total helplessness and are often frustrated with the repeated episodes of acute attacks.

Quite often a patientís preadmission history will state restlessness, insomnia, stress, as well as the pain, nausea and vomiting and most probably extreme constipation. In about 8% of acute attacks patients will experience diarrhea.

Most porphyria patients begin to experience a mental change during the onset of an acute attack. Even the most passive of patients find themselves with agitation and becoming frustrated with both themselves and those around them, especially those who repeatedly ask questions or moreover treat them as if they are mental cases and overlook their need for immediate iv infusion, pain medication, nausea medication and a room to sleep without any bright light which further complicate exacerbations of porphyria.

Nurses working with porphyria patients need to understand that assessment and intervention treatment need to begin immediately. Many porphyria patients look perfectly healthy and vital signs may even be fairly normal, but such assessment can not and does not measure pain, the anxiety, the feelings of nausea and the desire to be infused to bring relief.

Monica Stevens, MSN, RN



Some Migraines Accompany Acute Porphyrias

In a study conducted in 1997 it was found that only about 8% of acute porphyria patients experience migraine headaches

. Migraines headache present due to a variety of reasons. It is known that migraine headaches can be triggered by allergic reactions, caffeine, exposure to tobacco smoke, and smoking.

In addition, porphyria patients have beeen able to attribute their migraine headaches to bright lights, loud noises, physical or mental stress, restlessness or isomnia, other changes in sleep patterns. Some data suggests that missed meals, alcohol, hormonal fluctuations due to menses can also trigger migraine headaches.

Foods always play a big role in porphyria. Likewise foods are associated with migraine headaches as well.

Foods containing the amino acid tyramine (red wine, aged cheese, smoked fish, chicken livers, figs, some beans) are well known triggers.

Some of the very things a porphyric will eat to keep their carbohydrate levels up, will at the same time be the very foods that can trigger a migraine headache. For example some fruits including bananas and citrus fruit, chocolates, dairy products and bakery goods are known to trigger migraine headaches.

Meats that contain nitrates are especially bad for triggering migraines. Such meats include bacon, hot dogs, salami, and cured meats.

Another well known variety of foods that can trigger migraines are those foods containing monosodium glutamate. Known as MSG, this additive to foods can be found in mnay food products. Another variety of foods to avoid are those which are processed, fermented, pickled, or marinated.

Migraine headaches often occur as a result of changes in the size of blood vessels. As migraines are triggered, often there is a constriction or spasm of blood vessels to the brain. With such construction there may be a decrease blood flow to these areas. This can result in other neurological (CNS) symptoms including visual changes, slurrd or impaired speaking, weakness or numbness of one part of the body, tingling sensations, and others.

Many porphyria patients relate that they are able to know when a migraine headache is about to happen because of what they call an aura happening prior to the actual onset. This is often referred to as visual symptoms, and is a part of what is termed the "classic" migraine.

Migraine headaches have a multifactorial etiology. There are both clear hereditary factors as well as environmental triggers which contribute to the triggering of a migraine headache.

To avoid the triggering of a migraine, the porphyria patient can lessen the probability of a migraine by avoiding factors that have been associated with previous migraine.

Mary Beth Stallone, MSN, NP
Vacular Medicine



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.

CENTRIM is a brand name for the generic drug combination of SULFAMETHOXAZOLE and TRIMETHOPRIM. It contains sulfa as an ingredient. The drug carries a warning against use in persons with the disease porphyria.

LOMAC is a brand name for the generic drug OMEPRAZOLE. In clinical trials this drug was known to elevate liver functions. Some hepatic failure was noted. The drug is metabolized in the liver. Caution is listed for persons with liver impairment.

ZAPEX is a brand name for the generic drug OXAZEPAM. It belongs to the BENZODIAZEPINE class of drugs. The drug contains sulfates. The drug carries a warning against use in persons with the disease porphyria.

OMIZAC is a brand name for the generic drug OMEPRAZOLE. In clinical trials this drug was known to elevate liver functions. Some hepatic failure was noted. The drug is metabolized in the liver. Caution is listed for persons with liver impairment.

LEVANXOL is a brand name for the generic drug TEMAZEPAM. It belongs to the BENZODIAZEPINE class of drugs. The drug contains sulfates. The drug carries a warning against use in persons with the disease porphyria.