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Porphyria Educational Services
Monthly Newsletter
July 2001


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.

Columnists 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 Educations Services in noway shall be held responsible in part or whole for any injury, misinformation, neglience, or loss incurred by you. In reading the monthly newsletters you need to agree not to hold liable any contributing writers.





FOCUS: Following Prescribed Medical Treatment

Compliance is the term used by the medical profession to describe the ability of a patient to follow the prescribed medication regimen for controlling a condition.

Non-compliance is an important cause of acute attacks in porphyria patients.

The latest diagnostic techniques attempt to determine a diagnosis of a given porphyria. In addition most physicians will want to prescribe the new treatment protocol and other treatment advances.

Such treatment advances attempt to hold the disease at its current stage. In addition it will hopefully bring the porphyric attack to a remissive state. By bringing porphyria into remission it will help to prevent further hepatic damage.

However, often porphyria patients will receive no benefit in medical management of their porphyria because the patient is not compliant. Being compliant means following precisely the protocols established and prescribed by the attending physician and being sure that other physicians or on-call personnel also follow the established protocols.

Compliance is particularly important in the treatment of porphyria. It has been said often that fewer drugs are the best drugs. Glucose is vital in bringing the acute attack under control quickly. Delay in starting glucose must be avoided.

Porphyrias are a chronic disease [meaning that they are ever present.] A person can either be latent [no manifestations and only a carrier] or they are deemed chronic [always susceptible to acute attacks and periods of remission].

Current preventive regimens for hepatic patients are fairly well straight forward. Many side effects will occur and each of those needs to be treated individually during times of acute attacks.

Drug regimens are not simple to follow. Multiple medications are often needed to be taken several times daily at regular intervals for many years.

In addition many medications have side effects ranging from minor and inconvenient to serious and disabling, requiring constant and effective communication between the patient and the primary doctor in order to design the best treatment plan for a given patient.

So, how can the patient and the doctor work together to develop a treatment plan that encourages compliance?

[1] Understand how your treatment plan works.

Understand what the results may be.

Patients who understand their disease and the treatment course are more likely to follow the treatment instructions and have more realistic expectations of the doctor and the management strategies.

[2] Work with your doctor to simplify your treatment.

Ask your doctor to check with the known leaders in porphyria treatment who are most open and knowledgeable in consulting with PCPs.

When possible a patient should be using the LEAST NUMBER OF DRUGS and at the lowest concentrations, the fewest number of times per day as necessary.

When treatment is changed, medications should be prescribed for the same time of the day if possible.

New drugs should be introduced one at a time. The new drug should be measured to evaluate efficacy and side effects.

If side affects occur that they should be reported on the DRUG REPORT website .

[3] Work with your doctor to fit the dosage regimen to your lifestyle to the extent possible.

Discuss your daily routine.

[4] If you have difficulty remembering your regimen [brain fog] ask your doctor to help write out your treatment plans in large clear letters or better yet print them out on their computer in large typeface. Largeness is important because of the often accompanying optic neuritis.

Identify all of your drug bottles by description as well as by name.

Keep an ongoing updated listing of all of your medications and make an extra copy for any emergency medical appointments as well as for regular appointments.

On your listing note the reason for the medication. Not all medications are given for the usual reason the drug was intended.

[5] Ask your doctor about the expected side effect of any new medication. Ask about side effects of any surgical procedure as well and especially in regard to anesthetics or medical equipment being used [tapes, tubing, wristbands etc.]

Ask about everything so that you will have no surprises.

[6] Remember that allergies to topical medications are often reactions to the preservatives. Knowing this may encourage you to speak to your doctor about any preservative-free options that may produce the same results. This is especially important in dealing with the cutaneous aspects of porphyria.

[7] Rely upon trained staff in your doctor’s office, other than your doctor to help you manage your disease more effectively and knowledgeably. Have a specific person trained to work with you and understand your disease and how it affects you and what your needs are.

Many doctors do not have the resources to regularly cover and repeat treatment factors with all of their patients. Porphyria requires a lot of time. A resource staff person overseen by the PCP can spend more detailed time with you.

This staff person can take on many of the responsibilities of the doctor and can also hurriedly cut through red tape when you are in crisis and the doctor is otherwise unavailable. They can provide assistance in many ways.

[8] Keep a detailed record of the time each drug should be taken and record the time of each examination and what was discussed. Every three months ask for copies of your entire medical records since the last request and carry these with you in a three ring binder.

The clinical charting is invaluable when you find yourself in a hospital setting where clinic charts are not attainable. This allows for the hospital ER or other staff to know first hand what your medical history is and where you are currently when you have your latest notes also enclosed in the binder.

Keep a journal of what you are experiencing in your treatment course so that you can remember all of the details on your next regular visit to your PCP.

Keep all of your medical care under the direction of your PCP with specialists as consultants. This is not only cost savings to you but it allows for a more exact and focused overview of your health management.

[9] Bring a relative or close friend with you to your doctor visits. This provides for better understanding of your disease by others. Also during the times of attack or brain fog, patients often do not understand or cannot remember what they have been told, particularly if detailed information is provided.

A second person is always good for documenting a doctor's instruction in a way you can best understand.

Ask questions about anything that is confusing.

Most doctor are allowed 15 minutes per patient. Ask your physician for allowance of two time slots for your appointments so that you may fully discuss your health.

[10] Be active in support groups and in medical self-help education seminars.

[11] Remember that the patients is the EMPLOYER and that the physician is the "employee". You are paying for his/her services.

Patricia Harrington MNS, LSW
Patient Advocacy Director


FOCUS: Numbness and Tingling in Hepatic Porphyrias

In the hepatic porphyrias there are a wide variety of conditions that porphyria patients experience. Even the same specific conditions can vary widely from one porphyria patient to another.

One condition that all will agree on is that from time to time they will experience numbness and tingling or abnormal sensations.

Such experiences range from periodic numbness with periods of tingling to all out paresthesias. Such prickling feelings are usually felt along the extremities.

In some medical descriptions of porphyria it will indicate sensory loss. Some porphyria patients will refer to the condition as a lack of sensation or loss of sensation. All of this is a form of paresthesias which is always associated with the hepatic porphyrias.

It is good for a porphyria patient to remember that porphyria in and of itself can cause such conditions, but at the same time need to realize that other disease manifestations can also produce such conditions.

Such conditions can include diabetes and other chemical abnormalities, long-term radiation or chemotherapy, stroke, TIAs [ transient ischemic attack], and even carpal tunnel syndrome.

Often associated with the porphyria itself can be the disease manifestations of hypothyroidism which is being recognized in more and more hepatic porphyria patients. And for others there is the possibility of related M.S or a vitamin B-12 deficiency.

It is also known that a variety of pharmaceuticals will produce numbness and tingling. These drugs include chemotherapeutic agents,phenytoins,chloroquine, D-penicillamine, macrobid [nitrofurantoin], isoniazid, and parenteral gold therapy.

As most porphyria patients known all too well, diagnostic tests may have to be performed to determine the exact cause of such tingling and numbness. Such diagnostic tests will most likely include a CT scan or/and an xray of the head or affected area. Sometimes the use of MRIs are ordered as well. There will be blood tests (such as CBC or blood differential).

An appointment with a neurology will most likely be arranged by your primary care provider. A neurology will most likely order an electromyography or a myelography, or both.

Lynette Radison PA
Neurology - Psychiatric Medicine


FOCUS: Explanations of the Neurological Effects of Porphyria

To date there is no known vehicle or diffusible intermediate that can be indicated to tie together the metabolic defects of porphyria which is specific to non-neural tissue and the neurological manifestations that are observed in repeated acute attacks by hepatic porphyria patients. These neurological symptoms simply cannot be explained, yet they are known to be real.

Most symptoms of the hepatic porphyrias cannot be fully explained by what is today's best understandings of the biochemical defects of the human body responsible for the various forms of porphyria. What is known is that in al confirmed cases of porphyria there is an abnormality in the enzymes. While much has been learned about the porphyrias especially since the 1960's and later after giant strides were made in the various areas of biochemistry and specifically DNA, what is known of the porphyrias is still in infancy.

Bill Wielder, Ph.D.
Biochemistry & Molecular Biology


Focus: Effectively Managing Hepatic Porphyria

I have been coping with hepatic porphyria for 30 years and wondered if I would ever life to see my children grow up, leave home, and have families of their own.

I have AIP, acute intermittent porphyria, which is a hepatic porphyria. I also have a subtype, VP, which also carries with it cutaneous symptoms. I had had strange drug reactions as a child after my first two dental visits, and with a tonsillectomy at age seven. Then life went along fine util puberty hit and my menses began at 13.

Then there was a few weeks of severe flu-like symptoms each months and lots of quiery by my physician. The diagnosis was very perplexing. I had never heard of VP. For years it was a series of repeat testings but finally a physician who set down a prescribed protocol for my AIP. No sun, no exposure to household chemicals, pesticides, paints and varnishes. When traveling always use sun screen and keep windows closed to avoid car exhaust and other chemical toxins such as the emulsion from tar in asphalt road beds.

Such exposures causes severe nerve damage and months of hospitalization until I found myself wheelchair bound and on a road to partial recovery.

After much trial and error we found that I can avoid acute attacks through consuming a high carbohydrate regiment rich in complex carbohydrates. Prior to menses or whenever I feel tired or stressed I am required to run a 1,000 ml bag of D10 in addition to the two 1,000 ml bags per week I use as a "preventive" therapy against acute attacks.

Because my electrolytes often become imbalanced and my mind becomes confused, my ordering physician also has ordered me a daily regiment of potassium, magnesium, calcium and Vitamin D. My regiment is based on my own needs/shortages and each person would need likewise to have their electolytes balanced according to their own shortages. I take 100 meq's daily of potassium because I am always below the normal range. Without supplementation I often run below a 2.1 in potassium.

Because I do not use estrogen replacement I am on a 2,000 gram calcium intake daily taken in combination with a 1,750 gram magnesium and 400 unit of Vitamin D. My ordering physician has told me that it is most necessary to take this trio of drugs together in order to help get the maximum absorption from the supplements. Such supplements not only safeguard against the electolyte imbalances that can occur, but moreover safeguard against the loss of bone density.

I know that following this strict treatment program means the difference between living a fairly normal life or becoming a chronic smoldering porphyric unable to work or living a full activity filled life.

I had had my fill of in-patient infusions and then looked over the options of PORTs and PICCs and applied for and was granted home infusion capabilities. Here was a real turning point for me. I had control of my day to day life and it was up to me to take control and follow through on my physician’s strict protocols.

I follow my physician's instructions down to the last detail. It is necessary to be exacting and detail oriented. Being so helps me face my disease which is a challenge and also a responsibility.

It is my own personal belief that each and every porphyria patient has a duty to actively participate in his or her own therapy to the best of their ability.

Write down all of your questions or concerns in regard to your porphyria. Write down what is happening in the experience of the course of your therapy or treatment plan. Have your care taker accompany you on each visit to your primary care physician to help you in communicating in the most effective way what is going on and what your needs are.

In addition stay on top of new medical research that could one day help you with any one aspect of your porphyria and it's many medical conditions that it presents.

Most of all keep a detailed binder. I use a standard three-ring binder. I have been keeping my own medical history since realization I was more sick than just flu. I have obtained personal copies of all hospital logs, clinical charts, and lab reports back to the time I was 13, as well as obtaining the names of the drugs used when I had my tonsils removed and had dental work done. Today I know them all to be unsafe drugs.

In your binder divide it with tabs. At the beginning have your personal identifying information. Insurance policy numbers and names of providers. Social security number. Birthdate, and a copy of your living will and personal directives.

Then a page should be devoted to all the things you know that you are allergic to or show a sensitivity to. In this section you should also always carry the latest UNSAFE DRUG list for porphyria patients.

Then there should be a section for all the medications and medical protocols that you currently are using. It is vital to update this regularly and to go over this with your PCP.

Also in you binder there should be an affirmation page This page is mainly for you but it is a place for logging your attitude. Attitude has everything to do with getting through this disease.

If you look around, there are people facing all sorts of disabilities and diseases that have no treatment or cure. As a hepatic porphyria patient you can feel lucky that you actually can do something about your porphyria. I can do things to compensate for my disabilities while still maintaining my independence and lifestyle.

My plight as a porphyria patient will not consume me as long as I know that I am doing all I can do. This is not to say that the prospect of my VP worsening doesn't scare me. It concerns me greatly. That is why I am determined to do everything in my power to ensure that it does not happen. I feel that when you empower yourself, the future is a lot less scary and that I have some control over my life.

Barbara A. Carlson
Porphyria patient


Focus: Abdominal Pain as a Major Hepatic Porphyria Symptom.

In the hepatic porphyrias there are various symptoms. Many of the symptoms stem from the CNS [central nervous system]. Most of the porphyrias are noted for their neurological conditions as well as their cutaneous symptoms. One of the most frequent symptoms experienced is that of abdominal pain.

Pain in the abdominal area is often noted during the onset of an acute attack Often referred to as stomach pain or cramping, it also can be a chronic smoldering condition in many porphyria patients.

While there are many causes for abdominal pain in normally healthy people, such pain is usually not related to a serious or severe medical disease or condition.

Onset of the menses in women, bladder or urinary tract infections, gallstones, kidney stones, gas or indigestion are the more common maladies that can be associated with abdominal pain. However abdominal pain associated with porphyria is a perplexing one.

Abdominal pain in porphyria is known to be present, yet it can not be tested, and the specific cause can not yet be identified. It is also known that high carbohydrate intake either consumed or through intravenous infusion can reduce the abdominal pain within a short time and that pain most usually will go into remission.

In porphyria patients without a confirmed diagnosis, a trip to the emergency room with severe abdominal pain can be a lengthy process and usually without alleviation of the pain without a wait.

Because such abdominal pain can be a nonspecific symptom in many people, such pain may be associated with a multitude of conditions. Abdominal pain does not always originate in the abdomen or when it does may not originate in the gastrointestinal tract.

Also important to note is that the severity of the pain does not always reflect the severity of the condition causing the pain.

A person with such abdominal pain should be highly suspect for porphyria, however unless the patient has a family history of the disease, or after lengthy laboratory testing and a variety of procedures has taken place, porphyria is usually not considered.

When a patient with the abdominal pain goes to the EOD for help and does not know of the porphyria they will most likely be checked for early appendicitis, cancer, gall stones, kidney stones, bladder infection, ovulation problems, biliary tract disease, renal disease, and /or a blocked bowel.

Many a porphyria patient has undergone laproscopy, had their appendix removed, or their gall bladder removed. Almost all have had barium enemas, endoscopies or colonscopies, in addition to the GI series, abdominal ultrasound [doppler], abdominal xrays, CT scans, or MRIs.

While in the EOD if a patient is termed "acute abdomen" usually immediate surgical intervention is prescribed. Such abdominal pain that indicates a potential emergency condition is usually associated with a raise in temperature, nausea, bloating and/or constipation. While these are all associated with a bowel obstruction, as most hepatic porphyrics are aware, they are also conditions present in acute attacks of porphyria.

Dr. Robert Johnson, M.D.


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.

MIRACID 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.

DAZID is a brand name for the generic drug HYDROCHLOROTHIAZIDE TRIAMTERENE. It is classified as a diuretic. It can cause liver enzyme abnormalities. It can also cause renal failure. This drug can also reduce levels of blood serum potassium essential to electrolyte balance. This drug also contains the ingredient of sulfate.

ARTANE is a brand name for the generic drug TRIHEXYPHENIDYL. This drug is not to be taken by persons with a seizure disorder, kidney or liver disease. It is metabolized through the liver.

ULTRAM is a brand name for the generic drug TRAMADOL. It is an analgesic. Seizures have been reported in patients receiving this drug. Respiratory depression may also occur. The drug is metabolized in the liver. Besides the possibility of seizures, paresthesia, cognitive dysfunction, hallucinations, tremor, amnesia, difficulty in concentration, abnormal gait, and depression have occurred in the central nervous system. Deaths have been noted with this drug.

INTENSOL is a brand name for the generic drug ALPRAZOLAM and is a part of the drug classification of BENZODIAZEPINES. The following adverse events have been reported in association with the use of benzodiazepines: dystonia, irritability, concentration difficulties, anorexia, transient amnesia or memory impairment, loss of coordination, fatigue, seizures, sedation, slurred speech, jaundice, musculoskeletal weakness, pruritus, diplopia, dysarthria, changes in libido, menstrual irregularities, incontinence, and urinary retention This drug has a warning on withdrawal reactions including seizures and dependence. The drug is metabolized in the liver. There is a warning concerning use in patients with liver disease.