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Porphyria Educational Services
Monthly Newsletter
October 2001

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.

Focus: Preventive Therapy and Rates of Infusion
Preventive therapy is used when one's body does not absorb enough carbohydrate on its own. It is infused so that there is a steady amount of carbohydrate going to the liver.

But why carbohydrate?

Carbohydrates stop the overproduction of porphyrins which subsequently cause the symptoms of an acute attack.

Carbohydrates are the only thing known to date to stop the over production which principally takes place in the liver in the hepatic forms of porphyria.

There are always porphyrins being manufactured, but in a porphyric person, there are mutations. These mutations can be triggered by infection, or diet, but most often chemical toxins.. either drugs or environmental. The body then become unable to absorb the necessary carbohydrate intake of 350-400 grams per day most generally necessary to keep the porphyrins level normal in a person with a hepatic porphyria.

When a person is deprived of carbohydrate the over production in the manufacturing of porphyrins starts. This then allows for a person with a hepatic porphyria mutation to go into an acute attack. Until a person in attack has enough carbohydrate intake being absorbed into the blood stream and then into the liver, an acute attack will continue. Once carbohydrate is over 400 grams per day the overproduction will fall back to normal porphyrin levels and this will bring an acute attack under control.

Preventive Therapy for he hepatic porphyic is based on a number of factors. Such factors include the number of previous attacks, the duration of such attacks, the type of trigger of the attack, and of course as with any medical conditions, other medical problems will bear an effect.

If a hepatic porphyric begins home infusions a normal protocol is to begin with two or three 1,000 ml bag infusion per week. If the person does well it is quite possible to cut back to one infusion per week or perhaps every five days.

However most porphyria patients find that 2 infusion per week the minimal best to avoid having attacks. The spacing of such infusions in theory is to help maintain a stable level of carbohydrate in the body and to keep the porphyrin production within its normal range. This is often referred to as "supply and demand" quota.

For many who have been chronic smoldering for a time, three 1,000 ml bag infusions per week is normal. By keeping this protocol patients have noted that their noticeable deep bone pain and other general porphyria maladies seem to be milder or go into remission with such a regiment. It has long been known that with the infusion of glucose that pain will be reduced.

If the triggers of attacks seem to be worse with exposure to insecticides, fungicides, herbicides, fresh paint and varnish fumes, tar and asphalt fumes and factory emissions, then preventive glucose infusion should be at least 3 times a week.

Some porphyria patients have noted that in the winter months when outside exposures to the major chemical toxins noted above are far less, that they can safely reduce their infusions to twice weekly. However at the first signs of spring approaches because of the rise in the number of triggers that are in the environment, it is best to infuse more often. So narrowing the intervals again between infusions need to be adjusted, as well as at the beginning of winter when they often can be expanded.

As with all aspects of porphyria, the number of infusions a hepatic porphyria patient has is a very individual thing. It is based solely upon you, your medical history, and your own environment.

Dr. Robert Johnson M.D.

Focus: SSRIs and Hepatic Metabolism.

In the early 1980s it was determined that SSRIs inhibit hepatic metabolism. This was another finding that would go a long way in helping in the treatment of porphyria patients.

In this area it is important to understand that it is not just one SSRI inhibiting one isoenzyme. In fact there are many different SSRIs and they affect different hepatic isoenzymes.

Many porphyria patients are now aware that they must be very selective in the use of pharmaceuticals, specifically those that are hepatic P-450. The last few years has seen much written in medical journals in regard to the P-450. A lot of the journaled materials focuses on the drug interactions.

For the last decade in particular, there has been an increasing interest in the effects of drugs on hepatic isoenzyme function. The P-450 studies have been central in the work of Dr. David Flockhardt at Georgetown University. His findings have been most useful in determining the safety and effectiveness of many drugs being considered for use by hepatic porphyria patients.

Such research has been most beneficial due to the previous reports of serious toxic reactions by porphyria patients. One drug especially was ketoconazole.

It has also become known that some genetically determined differences in hepatic isoenzymes function can be determined to be risk factors in the development of a variety of diseases, not only in the porphyrias.

The effect on hepatic isoenzymes is emerging as the major clinically important distinguishing characteristic among the selective serotonin reuptake inhibitors (SSRIs).

There are two major classes of P450 isoenzymes.

The one class metabolizes a large array of chemicals such as drugs, environmental chemical toxins, various alcohols and natural animal and plant products.

The second class includes such things as fatty acids, protaglandins and steroids. Many have been indicated in the metabolism of drugs. The clearance of many drugs are dependent on P450 enzyme-mediated biotransformation.

If an enzyme is not functional because of genetic deficiency such as one of the porphyrias, toxicity can occur. TCAs are important factors in toxicity in the liver.The hepatic isoenzyme 2D6 is the rate-limiting enzyme for the clearance of drugs like TCAs

Increasing research indicates that late-onset toxicity results from chronically high accumulation of environmental toxins These environmental toxins result from delayed clearance of toxins due to a functional deficiency in a hepatic isoenzyme needed for its biotransformation and elimination.

Clearance of drugs are dependent on the functional integrity of certain enzymes. In the porphyria patient things are not normal and there are many unknowns presently. It is naturally more difficult to establish a cause and effect relationship when toxicity is delayed.

Presently knowledge from such research studies are limited. However there is a growing understanding of the effect of drugs on hepatic isoenzyme function.

Dr. William Reed Ph.D.
Biochemistry & Molecular Biology

Focus: Photosensitivity and the Cutaneous Porphyric

For most porphyria patients photosensitivity is definitely an area of grave concern. Any prolonged exposure to sunlight, or uv lighting needs to avoided.

For the cutaneous porphyria patient it is easy to develop a rash. A porphyria patient with cutaneous symptoms finds that their skin is sensitive to sunlight. Such sensitivity to sunlight is known as "photosensitivity."

For the porphyria patient with skin manifestations, it can be a year around problem, although many find some remission during the winter months. However it is quite possible for photosensitive patients to be affected by fluorescent lamps indoors, as well as glare from sunlight on snow.

Sunlight contains both ordinary visible light and shorter invisible light rays called ultraviolet radiation (UVR). The ultraviolet lights are well known for producing suntans, however such uv lights also cause burning and skin cancers.

Photosensitivity can occur for a several different reasons. For the porphyria patients with cutaneous symptoms they often find problems from certain medicinsa they have taken.

Many porphyria patients also suffer from certain autoimmune diseases which also give way to cutaneous symptoms.

Chemicals, perfumes, plastics, or plant materials in contact with the skin can cause itching, rash, drying of the skin, cracking and bleeding, and often scaring.

The metabolic disorder porphyria itself can cause a wide array of skin problems including the rash, itching, bleeding and scaring.

Sun protection is the best policy for the porphyria patient. Complete avoidance of UVR is necessary Bright surfaces, like snow, concrete and sand, reflect UVR and can nearly double the amount that gets to the skin.

Always use at least a 45+ sunblock. Zinc and titanium dioxide are the best.

Sun protection is needed regardless of the weather. It is needed even if you sit in the shade. Remember too that even when you are inside of your home that UVA can pass through window glass.

Wear clothing that will protect your skin. Such material should be opaque. Dark colored and thick/tight woven fabric is the most effective.

R.A. Thompson

Focus: Toxic Chemicals, Environmental Laws and the Porphyric

Not so long ago public television aired a two hour special by Bill Moyers which focused on the chemical toxins in our environment. Moyers himself gave blood samples which indicated all types of chemical toxins to which he had been exposed over the years.

The majority of the toxins were ones from just the last few decades. Very toxic too.

There are several problems with our environmental laws and the expected protection that we would have from such laws. Those who oversee chemical emissions and are to safeguard the general public often find themselves unable to do so.

The majority of environmental legislation in the United States is designed to control only the release of potentially dangerous wastes into the air and water. Such legislation does not provide for controlling the amount of exposure people actually have with those pollutants.

In other words current legislation has as it's focus the emissions of chemical toxins rather than exposure of people to chemical toxins. Such legislation basically denies the premise that toxic substances produce health problems only if they reach the body. For porphyria patients, or those suffering from MCS and other medical conditions, there is much room for exposure to chemical toxins which repeatedly causes a multitude of continuing health problems.

For many years little was known about porphyria. And for many years little information was available about the extent to which most people were exposed to the chemical toxins.

Federal regulatory standards need to tighten up control on emissions and the number of chemical toxin exposures to people in general. Moreover it has to recognize that porphyria patients specifically need to have protection from such chemical toxin exposures.

It has been noted that regulators hardly ever knew with any certainty the number of people affected by a given pollutant. Moreover they never knew of the severity of exposure or the specific sources of the toxic chemical.

Today, more than ever, especially with the ability of medical science to better diagnose people with porphyria and other metabolic diseases, and with the better ability to access people's exposure to toxic substances, it is high time to remove many of the chemical toxins that cause such health problems.

All people are exposed to potentially dangerous chemicals on a daily basis. For the porphyria patient such exposure often leads to more clinical manifestations of their disease.

Dr. Roy Rierson PhD
Environmental Studies

FOCUS: Mental Change During Acute Porphyria Attacks.

Mental change is a "catch-all" term which can cover a whole range of psychological associated conditions which can take place during an acute attack of porphyria.

Delirium, hallucinations, ANS [altered neurological state], ACS [acute confusional state] or even a charting of acute brain syndrome can be associated with an acute attack.

Mental changes are usually acute confusional states which are usually the result of the physical illness aspects of porphyria itself. Such mental changes are usually temporary and reversible.

Many such mental changes are directly related to electrolyte imbalance, dehydration, and are resultant from nausea and vomiting or/and diarrhea.

Some mental change is due to cranial pressure.

Mental change in porphyria often involves a rapid alternation between mental states. Such alterations may include going from a highly agitated state to being lethargic and perhaps then returning to the previous state. It also often encompasses disorganized thinking, the ANS with a severe attention disruption, a change in perception, or in many people a general disorientation.

Porphyria patients often complain of inability to concentrate, "brain fog", being somewhat incoherent, having insomnia, or restlessness, disorientation, loss of taste or other sensation, in ability to be alert, and sometimes short-term memory loss.

Those experiencing the ANS often agonize because of the altered level of consciousness or awareness and inability to recall events or account for passage of time.

Many porphyria patients note that during times of attacks they experience a whole range of emotions including apathy, anxiety, personality, anger, euphoria, anger, depression , and irritability.

Not surprising, upon clinical evaluations there is a revelation of abnormalities. Such abnormalities include loss of tendon reflexes or an abnormal reflex.

Mental change in the porphyrias can usually be attributed to electrolyte inbalances. Laboratory testing should be immediately ordered upon being admitted to an EOD. Such testing should include the blood serum elctrolytes panel, calcium, glucose, magnesium, ammonia, TSH, and liver function tests. In addition a standard UA [urinary analysis] should be ordered.

Intravenous fluids should be infused immediately to hydrate as well as replace low levels of electrolytes and build up the carbohydrate level bringing the porphyria attack under control. The objective of treatment is to control or reverse symptoms.

Discontinuance or changing medications that worsen confusion, or that are not essential to the care of the porphyric person, may improve cognitive functioning even before the intervention glucose treatment of the underlying porphyria is completed.

Dr. Kenneth Carlson
Neuropsychiatric 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.

SERAX 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.

ZENTROPIL is a brand name for the generic drug PHENYTOIN. Another name is DILANTIN. It is an antiepileptic drug. It is related to barbiurates in chemical structure. The liver is the chief site of biotransformation of phenytoin; patients with impaired liver function and porphyria should not take this drug.

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.

EXBESUL 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.

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.