May 2003 PES Bulletin

Cognitive Ability Often Dysfunctional During Attacks.

Many acute porphyria patients have experienced sluggishness in their remote memory, as well as recent memory. Recalling an event, a name, or directions often become most frustrating during acute attacks.

For some patients their orientation goes all "hay-wire". Often patients can not even understand what is being communicated by their physician during an acute attack. Word comprehension is poor at best. And worse of all many porphyria patients relate is that they can not focus on anything. Their attention span is nil.

Some medical clinicians will order cognitive ability testing done. These tests are screening tools for cognitive impairment.

In some porphyria patients such cognitive ability impairment may be due to low
In some cases the cognitive ability dysfunction is due to environmental factors such as heavy metal poisoning.

Porphyria patients who use chloroquine treatment can also experience loss of cognitive ability due to the chloroquine itself.

Where loss of attention span is present, such loss of cognitive ability may be due to confusion or depression associated with the acute attack.

It is good to remember that in most cases, normal cognitive ability returns as soon as the acute attack of porphyria goes into remission.

Craig Lewis PA
Neuropsychiatric

Chester Porphyria is Another of the Acute Hepatic Porphyrias

Toward the end of the 1980's medical scientists had identified still another form of poprhyria, that of Chester Porphyria. Chester porphyria is another form of the acute hepatic porphyrias which are thr most prevalent of the inherited porphyrias. For the most part Chester porphyria has the markings of both AIP and VP.

It was found that the Chester porphyria was an acute hepatic porphyria which was afflicting a large number of people in an English family.

Carriers of the Chester porphyria are all descendants a British couple who were married in 1896 . From this marriage by the mid 1980's 200 descendants had been produced. Medical scientists in the UK have indicated that this is the largest porphyric kindred to be identified in the United Kingdom.

Several of those identified with the Chester Porphyria died from the condition. Medical researchers feel that the diagnosis of porphyria was overlooked in some as the symptoms may mimic those of other acute illnesses.

In the Chester Porphyria the symptoms of psychosis, hypertension, and renal complications are particularly common.

Chester porphyria has the characteristic enzymatic defects of acute intermittent porphyria as well as those of variegate porphyria coexisting.

The previously unidentified form of acute hepatic porphyria reveals that patients present with attacks of neurovisceral dysfunction. (CNS) In the Chester Porphyria none of the carriers have experienced the cutaneous photosensitivity.

Biochemically, the excretion pattern of heme precursors varied between individual carriers. Some Chester porphyria patients have a pattern typical of acute intermittent porphyria, while others will be liken to that of variegate porphyria.

Enzymes studies in the peripheral blood cells show a dual enzyme deficiency, with reduced activity of both porphobilinogen deaminase like that in acute intermittent porphyria,(AIP). In addition there is a reduced protoporphyrinogen oxidase, as found in variegate porphyria. (VP)

Presently there is not a clear understanding of the genetic basis of this dual form of acute porphyria and its relation to the other acute porphyrias.

Another name for the Chester Porphyria is Dobson's Complaint.

Lawrence Littleton, Ph.D.
Medical Research Department

Brain Imagining Used in Assessing Porphyric Neuropathy

Often the porphyria patients think by the time they finally have a confirmed diagnosis of their disease, that they have just about had every type of medical test imaginable.

Unfortunately, acute porphyrias often progress and porphyric neuropathy (PN) often accompanies the disease.

Brain Imaging can give a lot of information about the inside of the brain as well as the skull itself.

There are several forms of brain imagining.These include conventional x-rays and x-rays taken after the injection of dye into the vessels leading into the brain. This later form is known as angiogram. Another form that is sometimes used is that of echoencephalograms.

Such testing procedures help your physician to find any malformations, scar tissue, blood clots,, brain tumors, that might be causing PN symptoms or seizures in a porphyria patient.

More widely used is that of MRI's. Magnetic resonance imaging is accomp[lished by use of magnetic fields instead of x-rays to produce detailed pictures of the brain.

Similarly a magnetoencephalogram (MEG) measures magnetic fields of the brain. By this means a physician locate exactly the source of signals of seizure activity as well as the site of normal functions such as vision, hearing, or sense of touch.

A process which has been widely used for a number of years is that of computed tomography (CT) . This process is often referred to as the "Cat-Scan". The CT produces images of brain structures inside the head.

Both the MRI and the CT are long horizontal beds which slide into a cyclinder conelike housing. The patient must lie absolutely still on the bed while imagining is performed.

Often the patient undergoing the imagining procedure is given an injection of what's called a contrast medium. This is a fluid that goes up to the brain and makes the scan easier to read.

In porphyria patients it is important to review thoroughly with the radiology before the procedure what type of contrast medium is being used and what chemical elements are contained within the solution.

Sometimes porphyria patients undergo an imaging process called a positron emission tomography (PET) scanner. The PET produces color-coded pictures of brain processes at work -including blood flow, use of glucose, and the presence of oxygen.

While porphyria patients often undergo such brain imaging, it is important to remember that more often than not, results from such imaging will be negative unless nerve damage has become permanent. Much PN experienced by acute porphyria patients is "transient" and thus does not cause permanent damge which would be detected in brain imagining.

Ronald Dirkens BSN
Registered Radiology Technician

Caffeine Intake Should Be Avoided or Limited

Caffeine is a chemical that for the most part should be avoided by porphyria patients.

For years caffeine has been found on some unsafe lists and yet not on other list for porphyria patients. Much of this has to do with the fact that the Unsafe Drug lists are usually seen as purely drug lists and do not include foods or environmental chemical toxins.

Caffeine intake is important as its ingestion may result in therapeutic doses of some drugs to reach toxic ranges. Some drugs are metabolized in the same way as caffeine which is that of the xanthine oxidase pathway.

Drinking coffee or tea are not the only way to ingest caffeine. Caffeine ingestion can occur in a variety of ways.

Chocolate and cocoa contain not only caffeine but theobromine which is metabolized to caffeine prior to complete metabolism. All cola drinks unless specified caffeine free, contain large amounts of caffeine.

The high intake of caffeine can cause a variety of side effects. Such toxicity can cause a porphyria patient to experience headache, rhinorrhoea, nausea, anxiety, restlessness, irritability, dry mouth, tinnitus, palpitations, arrthythmius, tachypnoea, increased blood pressure, diuresis, sleep disruptions, additional gastrointestinal disturbances, and a variety of other symptoms.

For most porphyria patients it is better to avoid caffeine beverages completely, but caffeine can be ingested in limited amount when consuming solid foods containing some chocolate, such as cake, cookies or small amounts of candy when receiving necessary carbohydrate take.

Sheryl Wilson, MNS, RD
Registered Dietician

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.

PERCODAN is the brand name for the generic drug OXYCODONE.This drug can produce drug dependence of the morphine type The administration of Percodan or other narcotics may obscure the diagnosis or clinical course in patients with acute abdominal conditions such as a porphyric attack or other medical conditions. PERCODAN should be given with caution to patients such as the elderly or debilitated, with impairment of hepatic or renal function,or/and hypothyroidism. The drug is metabolized through the liver. Another brand name for this drug is PERCODAN-DEMI.

CELEBREX is the brand name for the generic drug CELECOXIB. The drug is primarily prescribed for the pain relief of arthritis. This drug should not be used by persons with liver disease. The drug is metabolized through the liver.

THORAZINE is a brand name for generic drug CHLORPROMAZINE HYDROCHLORIDE It is a PHENOTHIAZINE derivative. The drug contains calcium sulfate. It is psychotropic. There is the following warning that this medication should be used cautiously in patients with liver disease. The drug is metabolized through the liver. As with all antipsychotic agents, tardive dyskinesia [TD] may appear in some patients on long-term therapy or may appear after drug therapy has been discontinued. Instances of skin pigmentation have been observed Many porphyria patients have noted use of this drug with mixed results. Porphyria specialists still list the use of Compazine as safe while Thorazine is listed with mixed results and is potentially dangerous.

DYAZIDE 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.