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Porphyria Educational Services
Monthly Newsletter
September 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: Cognitive Abilities and Porphyria Progression

The hepatic porphyrias are a complex set of conditions that have numerous symptoms associated with them.

Changes in cognition or one's ability to think, reason, and remember may develop and there are many factors that can contribute to these changes.

An accurate assessment is needed in order to establish an appropriate treatment strategy for each individual porphyria patient.

Major cognition area include thinking, memory, language, dementia, depression and the side effects of medications.

Bradyphrenia, or a slowing of the ability to think, can occur in some porphyria patients. An example is that just as it takes more time to sit up in bed and then get into a standing position, more time may be needed to respond intellectually.

It will take a longer time to process or make sense out of information. This can be most frustrating to both the porphyria patient and the care provider.

Sometimes this cognitive symptoms may be misinterpreted as intentional behavior, or a lack of interest or even stubbornness. But it is vital to understand that changes in the brain are the cause of this common symptom. Often porphyria patients when they first notice this change taking place will laughingly refer to it as "brain fog".

Another cognitive area is that of memory. In the porphyrias memory remains relatively unaffected. However, some individual porphyria patients may experience difficulties remembering where and when particular events occurred without being given some kind of a cue.

Language is another area of cognitive problems in porphyria patients. While significant changes are relatively uncommon, some subtle changes seem to occur.

Speech will often become slower and the amount of spontaneous speech is reduced. Often porphyria patients facing this cognitive problem tend to separate themselves from others and may not initiate conversations as often as they formerly did. Sometime these changes can be misinterpreted as indifference. This will also lead to poor communication.

Dementia is often cited as one of the notable mental changes among hepatic porphyria patients. Most usually it is reserved during the times of acute attacks. However when a porphyria patient becomes "chronic smoldering" dementia may linger.

Significant and dramatic changes in memory, reasoning ability, language and attention may develop in a small number of people.

As porphyria patients age, the risk for dementia becomes greater. The progressive decline in the ability to think, reason and remember increases.

Depression is one of the primary areas of concern that faces an ever growing number of porphyria patients.

Depression is another possible cause of the cognitive changes. It is significantly more common in those with porphyria than in the general population. Sometimes depression is assumed when it is not really the culprit. Also it is can be vice versa.

Porphyria in and of itself can cause a loss of interest in activities, fatigue, change in weight and social withdrawal.

This simalarity in symptoms can result in an under diagnosis of depression in those with the chronic smoldering porphyrias. Oft the porphyria patient may not even recognize that he or she is depressed.

On a more positive note, depression is a very treatable illness and can be controlled with a combination of medication and cognitive-behavioral therapies.

Porphyria patients have quite an array of medications available to control the various symptoms of the disease itself. However managing the symptoms of porphyria becomes increasingly more difficult as the illness progresses.

The development of side effects and changes in the steady response to medications pose numerous challenges to the porphyria patient, and the health car provider.

Change in cognitive ability is a potential effect of every medication used to treat porphyria with the exception of the glucose itself. Therefore treating physicians and the porphyria patients themselves need to know what side effects are associated with the medications that are taking. If cognitive decline is experienced the physician should be contacted at once and changes be made in medication.

People with smoldering porphyria often experience changes in their mood and cognitive ability. Decreased ability to generate new ways of solving problems may become apparent. All porphyria patients needs to be aware of possible cognitive problems and should report any symptoms to their health care providers.

Dr. Kenneth Carlson

Focus: A Look at the New Anti-inflammatory Drugs

Selection of pharmaceuticals for use in patients with a diagnosis of porphyria is a big challenge for most physicians as well as pharmacists.

To begin with many databases for drugs are arranged alphabetically by brand-name since that is how most doctors and pharmacists know them. However warnings for many drugs today first appear in information released on the generic-name drug.

Most everyone concerned is well aware that any drug with sulfa or any barbiturate is to be avoided at all costs. Now today there are a whole new wide array of drugs coming out on the market and all seem to have many hidden ingredients, some non-active and other binders and fillers which can and most likely will trigger porphyria.

For now I will concentrate on one area of what are called Nonsteroidal Anti-inflammatory Drugs or NSAIDS. NSAIDS can include many of the new arthritis drugs, many of which are not considered safe for hepatic porphyria patients.

Nonsteroidal Anti-inflammatory Drug are pharmaceuticals that inhibit or stop the body's inflammation process. This inhibiting is done without the use of cortisone or other steroid drugs. Probably the most commonly used NSAID's are aspirin, tylenol or naproxen. These drugs of course should never be taken on an empty stomach.

One area of NSAIDS are called a COX II inhibitor. These drugs are a relatively new family of nonsteroidal anti-inflammatory drugs. While these COX II inhibitors are not necessarily more effective at reducing inflammation and pain when comparing them to the older and more traditional nonsteroidal anti-inflammatory drugs, the new COX II inhibitors are substantially an advance over the older and more familiar drugs.

One of the high points of the Cox II inhibitors are that they have been clinically proven to cause less stomach irritation. This is vital. These drugs are also known ro carry a lower possibility of complications. One such side effect would include irritation of the lining of the stomach, ulceration of the stomach and abdominal bleeding. While taking this medication can be done without regard to meals many physicians and pharmacists alike recommend taking OX II inhibitors along with food intake. This is just a little extra precaution against complications.

Be sure to review all of the COX II inhibitors with your physician or pharmacists in regard to whether the drug metabolizes through the liver. Also ask about the added ingredients. Be sure that your medication will be considered safe for you due to your porphyria.

Jeff SImonson RPh

Focus: Taking Precautions While Awaiting Diagnosis

The symptoms come and go or some linger on and on. Repeated trips to the medical clinic give no real answers. After a while many porphyria patients hear the familiar verbiage "It is all in your head", or it is "psychological", or "you are an attention seeker or drug seeker, or you are a "malinger". Many physicians will use one or more of these expressions rather than admit that they are perplexed and have not a clue as to the cause of such symptomology.

Insomnia, nausea, vomiting, abdominal pain, leg cramps, muscle spasms, constipation, often skin manifestations. Symptoms that could be any number of different medical conditions.

Ruling out appendicitis sometimes goes as far as having the appendix removed. Countless CT scans, MRIs, laproscopy. endoscopy, colonoscopies, and barium enemas have been performed in the trail to discovery of one of the porphyrias.

However one major and critical factor needs to be remembered where porphyria is concerned. The most harmful drugs for someone with porphyria are barbiturates and sulfonamides or better known as sulfa drugs. And many persons with porphyria go years before they have a diagnosis and all too often they experience severe acute attacks because of exposure to what is considered an unsafe drugs. Some of these drugs can be lethal for a porphyria patient.

Such drugs as anti-depressives, anti-seizure/spasmodics, tranquilizers, sleeping pills, and general anesthetics can all be very detrimental to a porphyria patient. And many physicians will offer patients sample packages of drugs. These are new drugs which are just coming out on the market and such drugs have not been around long enough to have a "track record" where major side affects are tallied especially in porphyria patients. One drug for instance is the new arthritis drug used to treat inflammation called Celebrex.

It is very important that you review with the physician the ingredients of such a drug before he gives you a sample or writes you a prescription for it. Celebrex contains sulfa and for a person with acute hepatic porphyria it would most likely trigger an acute attack.

For the porphyria patient which has not received a confirmed diagnosis use of such a drug could have devastating effects. For porphyria patients who are latent and most likely unaware that they are carriers of the disease, use of such a drug will often take the person from the latent state into an active acute state.. It is dangerous if the diagnosis has not been made and if harmful drugs are continued.

Because the acute porphyrias have so many different symptoms it is most hard to get a diagnosis. The same symptoms do not always present nor do they present in the same way from acute attack to acute attack. And realistically if you call a doctor and tell him of the various symptoms it can throw them into a "tailspin". Often by the time you are seen in an emergency room you are in a state of mental confusion because of the loss of the needed electrolytes.

You are also by this time experiencing a variety of symptoms that usually do not fall together in other diagnosis. The longer the attack remain untreated the more symptoms will likely appear.

Muscle weakness may occur during a severe attack. Bulbar paralysis or respiratory paralysis can occur and can even be fatal.

Because of the CNS involvement leg cramps, muscle spasms, seizures, ANS, and stomach cramps can all occur.

Besides the use of unsafe drugs, dieting or low carbohydrate intake can bring on acute attacks. Environmental factors are also suspect for bringing on attacks.

A researcher at the Oregon Health Science University in Portland has written and presented research papers suggesting that many chemical toxins can also be considered triggers for the porphyrias.

Pesticides, herbicides, formaldehyde, some paints and varnishes, chemicals in cigarettes and some household cleaners have the potential to trigger attacks.

Alcoholic beverages, particularly the "dark spirits', such as bourbon, scotch or red wine, should be avoided.

Porphyria is a real disease. Do not let anyone tell you that it is all in your head. If you experience the symptoms of the disease and have a high level if suspicious of having the disease or have a family history of porphyria, be sure to take precaution. You should be treated as if you all ready have the diagnosis.

Dr. Ralph Lancaster O.D.
Critical Care

Focus: Accessing Brain Fog and ANS

Most every hepatic porphyria patients has those days when trying to think clearly is just about next to impossible! These happenings are more commonly known as having "brain fog".

Disturbed by the "brain fog" some porphyria patients have even undertaken neuropsychiatric testing procedures and scans because they were afraid that their might be other major medical causes for this state of mental confusion. Such memory impairment often will not show up in such diagnostic measures as neuropsychological testing.

Such "brain fog" will often disable a porphyria patient. It will impede them from carrying out their normal work routines and other responsibilities. Often such "brain fog" is equated with cognitive difficulties. Such cognitive presentations are characterized by ANS or other memory lapses. Often it is very brief and sometimes it can account for a considerable amount of time in one's day.

ANS, which translates as "altered neurologic state" is one variation of "brain fog". With the ANS the porphyria patient often does not even realize that they have not "been present".

Other cognitive impairment from "brain fog" can lead to porphyria patients being considered "disabled" and unable to continue to work. However, filing for disability claims on the basis of "brain fog" is very hard to obtain.

Many neuropsychological tests do not screen well enough to pick up ANS or the other types of "brain fog". Cognitive functioning for disability evaluation is often very different than that for a normal neuropsychological medical assessment.

A process prominently linked to memory impairment is dissociation. Dissociation is a failure to integrate experiences that normally go together. Short-term memory complaints of dissociatives are well known to mimic the complaints of porphyria patients. Like much of porphyria, everything seems to mimic another more well known medical condition which in the end means that the actual porphyria conditions get overlooked.

Another problem with testing of "brain fog" and loss of cognitive ability is that the level of dissociation fluctuates in intensity throughout the day. Such fluctuation will also be greatly influenced by the amount of stress that the porphyria patient is undergoing.

With the ANS aspects the porphyria patient is often unable to remember what was said, done or planned. Most often all they may be aware of is that there has been a passage of time.

Often when porphyria patients undergo neuropsychological testing for disability claims their poor memory is frequently traceable to compromised attention. It should be pointed out that the standard cognitive measures are not sensitive to complex attentional deficits and therefore can not detect or assess difficulties related to complex information processing.

Because of the problems of assessment such cognitive tests obscure the very problems that are the complaints of people experiencing the ongoing "brain fog".

Dr. Kenneth Carlson

FOCUS: Autonomic Neuropathy in Relation to Porphyria

In some of the major porphyrias the Central Nervous System [CNS] plays the key essential role in the manifestation of the disease. Part of the medical conditions experience is known as "autonomic neuropathy.

Autonomic neuropathy in porphyria is chiefly a collection of symptoms that are caused by various damage or destruction to the nerves. These nerves are the nerves which power the various internal body structures.

Many porphyria patients are known to suffer from various manifestations of PN. PN [peripheral neuropathy] is part of the peripheral nervous system. This system contains the nerves that are used for relaying communication to and from the brain. It also does the same with the spinal cord and various other parts of the body and CNS.

Such destruction or damage to the nerves that conduct or carry out the autonomic part of the peripheral nervous system effects blood vessels and the internal organs. Such damage causes abnormal or decreased function of the areas supplied by the nerve that is affected.

It should be pointed out that autonomic neuropathy is a group of symptoms. Autonomic neuropathy is not just one specific disease.

Some of the symptoms that are experience when dealing with autonomic neuropathy are a feeling of nausea, vomiting, not feeling hungry even when not having eaten, constipation, distended abdomen, inability to void [bladder dysfunction], bladder distention, diarrhea, dizziness, postural hypotension or motion intolerance.

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.

PARKIN 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.

PLANUM 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.

MOPRAL 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.

ANJAL is a brand name for the generic drug HYDROCHLOROTHIAZIDE TRIAMTERENE. It is classified as a dieuretic. 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.

TRAMOL 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.