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Porphyria Educational Services
March 2001 Monthly Newsletter

FOCUS: Muscle Weakness In Porphyria

Muscle weakness or a lack of strength is a reduction in the strength of one or more muscles. Such weakness in porphyria is a very important symptom. The feeling of weakness may be subjective. By this I mean that the person feels weak but has no measurable loss of strengthor concrete which is defined as a measurable loss of strength. Weakness may be generalized or defined as a total body weakness. Weakness may also localized to a specific area such as a limb, one side of the body, a side of the head, and such. A subjective feeling of weakness usually is generalized and associated with infectious diseases such as infectious mononucleosis and influenza. Weakness is particularly important when it occurs in only one area of the body. This is consdered a localized or focal weakness. Localized weakness may follow an acute attack of porphyria. Often such weakness is found in conjunction peripheral nerve problems. The common cause of such muscle weakness may result from a variety of conditions including metabolic, neurologic, and toxic disorders. This includes most of the porphyrias. The toxic triggering of muscle weakness has been found to be largely in part due to pesticides, fungicides, herbicides, rodenticides, and paint and other chemical inhilation. In most porphyria patients such weakness reults in periodic paralysis which is potassium related, such as hypokalemic periodic paralysis which occurs when the potassium blood serum levels diminish. Also other medicsal conditions by porphyria patients especiallyautoimmune disorders that interfere with the transmission of nerve impulses to muscle. Porphyria patients that use chloroquine will also experience extreme muscle weakness. and while used to treat one form of porphyria the use of chloroquine by the other seven main forms of porphyria is contraindicated.

There may be other causes of weakness. This list is not all inclusive, and the causes are not presented in order of likelihood. . Furthermore, the muscle weakness may vary based on age and gender of the affected person, as well as on the specific characteristics of the symptom such as location, quality, time course, aggravating factors, relieving factors, and associated complaints. Dr. Robert Johnson M.D. PhD. Retired Clinician


FOCUS: Increased Porphobilinogen in the Urine

Porphobilinogen is better known as PBG. PBG is an intermediate in the heme biosynthesis pathway. Numerous types of disease states can lead to a rise in the level of PBG. This is especially true in some forms of hereditary porphyria. What happens in porphyria is that enzymes subsequent to PBG in the heme biosynthetic pathway are deficient or missing. When these enzymes are missing, this will lead to a buildup of PBG. This PBG passes into the blood along with ALA which is another intermediate of the pathway. ALA is aminolevulinic acid. Both ALA and PBG cause neurological symptoms including headaches and stomach cramps. When the level of PBG in the blood rises it is easily filtered into the urine as it is a small molecule. High S.G. and high osmolality may be due to excess glucose in the urine (diabetes mellitus) or protein. This also might simply be due to dehydration. These tests are nevertheless useful as "first-line" screening tests to help determine whether further tests are needed. Most porphyria patients before reaching a confirmed diagnosis of porphyria undergo all too often a large battery of tests either due to unfamiliarity of the ordering physician with porphyria or laboratory mishandling.



One of the most frustrating aspects of the neurological porphyrias is that of brain fog. It is frustrating because of the associated memory loss or ANS. [altered neurological state]. Many porphyrics will come to notice speech disturbances, fuzzy vision, focal and concentration reduction. More over inattentiveness creates within the porphyria patient a sense of desperation, powerlessness, and hopelessness. In terms of personal safety brain fog can even be dangerous at times. Such examples include driving a motorized vehicle, standing next to a steep delcine or edge. At home it can be dangerous in the tems of being caught on a stairwell when brain fog hits, or where a boiling pot is left on the stove and then forgotten after the period of ANS goes into remission.

The mental incapacity experience by porphyria patients due to brain fog is intense and debilitating. Brain fog can often become a source of great fear among those who suffer from it. The cause of brain fog or ANS is largely unknown. One hypothesis is that during periods of ANS the brain is forced into a constant state of frenzy in an attempt to compensate for the lack of body control and to accommodate the constant widespread signals of pain and fatigue. As the porphyria patient becomes weaker and more fatigued, the brain kicks into overdrive in an attempt to stimulate body function. Inevitably, the brain will eventually become over-stimulated and fatigued itself, which results in the porphyric experiencing ANS.

Whatever the cause of ANS, it is experienced by porphyria patients on a daily basis. For many poprphyric the ANS will manifest only in association with attacks and for a short time thereafter. There is currently no known medical treatment available to help with the types of problems ANS imparts. MOST ANS or brain fog can be reduced or elminated however with careful preventive measures. There are steps that can be taken to combat it. Porphyria patients must monitor their electrolytes, especially potassium levels. In addition a person needs to get plenty of rest. Napping during the day goes a long way in helping avoifd porphyria attacks and the experience of ANS. As ANS or brain fog intensifies, and it does in porphyria patients who become chronic, learning to organize in one's life is essential. Organization can be an essential part of reducing confusion and disorder in our lives. When our lives are streamlined in an orderly fashion, our brains operate mechanically, leaving them more energy to focus on the demands of our failing bodies.

Being disorganized causes frustration.The more frustrated you become the more stimulated your brain becomes. This becomes a vicious circle because the more stimulated your brain becomes the higher the likelihood of mental fatigue or ANS. Porphyrics who have helped themselves describe list making as a way of reducing frustration and find that they then experience ANS less.

Keeping one's self in a routine is also important.

A routine will further reduce the frustration in the life of a porphyric patient. A routine will help to regulate the times when mental fatigue is more likely to occur. Do not rely on memory for scheduling. Use a calender and make appointments according to the times when you are less likely to be fatigued and mentally stressed. Another aspects to consider is keeping things simple. It will allow for peacfulness and this is important in reducing frustration.

Do not push yourself to the very edge of obliteration. Porphyria patients need to learn to listen to their bodies and minds. Delegate responsibilities whenever possible. Allow others to help you accomplish tasks, whenever possible. Mental exercises are important. Stimulating your brain can enhance its processes and working ability. It can promote increases in concentration, focus, and mental alertness. Also when ANS or brain fog present it is essential consume some "smart foods" which will enhance mental capacity. Your mental capacity improves through a series of neurotransmitters, and it thrives on glucose. This is a time for lots of good carbohydrates, will will help to stimulate brain function and at the same time help arrest the over production of porphyrins in the liver. Porphyria patients also need to learn to improvise. Relax, write down the thoughts that you want to convey before making those telephone calls. It is best to try and limit your conversations to those who are familiar with your illness when possible and then be "up-front" with the other party and let those that you are speaking with that you are not at your best. Spend time by yourself and in a quiet place. When ANS or brain fog are present in the porphyria patient it does away with the ability to control much of what happens to the porphyric, their minds, and overall in their lives.

JoAnn Wilcox, PhD. Clinical Psychologist


FOCUS: Bulbar paralysis

Bulbar paralysis is paralysis of the muscles of the tongue, lips, palate, and throat. The cause is generally a degeneration of the nerve nuclei in the brainstem, but is known to occur during severe acute attacks of porphyria. With other diseases bulbar paralysis is found occurring over age 50. In addition bulbar paralysis in non-porphyric patients is found in conjunction with amyotrophic lateral sclerosis or multiple sclerosis. The porphyria patient has difficulty swallowing and speaking and may inhale saliva and food. Often the bulbar paralysis will precede respiratory paralysis in many acute porphyria attacks. It is most generally accompanied by a peripheral neuropathy and general weakness. Dr. Robert Johnson M.D., Ph.D.


FOCUS: Delta-ALA Porphyrin Urine test.

The Delta-ALA urine test is a test that measures the amount of delta-ALA in urine. It is one of the mmore basic porphyria tests. Delta-ALA means delta-aminolevulinic acid. It is a basic component of the heme biopathway.

A 24-hour urine sample collection of urine is needed. An order for the test must be ordered by your personal physician. The physician will instruct you, if necessary, to discontinue drugs that will most likely compromise the results of the test. Also check with your physician that the correct preservative is being used in the collection jug. There are several porphyrin urine tests and each has its own specified preservative. A few things to remember about the tests is that light, air, and heat will effect the outcome of the test because these factors will lower the porphyrin count in the collection. Be sure that the cap is securely screw onto the container to avoid the leakage of air or light into the container. On day 1, urinate into the toilet upon arising in the morning. Collect all subsequent urine in the special plastic "hat" for the next 24-hours. On the second day urinate and pour all of the urine into the container in the morning upon arising. Cap the container. Keep it in the refrigerator or a cool place [36 to 40 degrees F.] during the entire collection period. Label the container with your name, the date, the time of completion, and return it as instructed by yopur physician. Submit the collection to the laboratory or your physician as soon as possible upon completion of the test. Be sure that it is properly stored in refrigeration and not left on the counter in the light and heat. It would be good to walk with the lab tech to the storage area and also find out the time it will be transfered to the assaying lab, and expected time of results. Be sure to always follow through on the test during the entire process to avoid the test being compromised in some way. Avoid exposure of the urine to direct light. The best results for this test happen when the urine is voided in complete darkness and pour directly into the collection jug in the dark or very dim indirect light. This test is useful in detecting specific liver abnormalities and is a good indicator test for patients suspected of having porphyria. Delta-ALA is a chemical produced from amino acids in the liver. It is the basic "building block" for the synthesis of porphyrins. The most important function of porphyrins are as components of heme. Heme is the major building block of hemoglobin. Oxygen binds to the iron in the heme molecules. Various kinds of porphyrins exist with the same basic structure but with slightly different chemical "side-chains". The major biochemical pathway is: delta-ALA PBG uroporphyrin coproporphyrin protoporphyrin heme Each step in the pathway requires a specific enzyme. If any of the enzymes is deficient, them a type of porphyria results. Normal values 1 to 7 mg per 24-hours Before starting this test be sure that you are NOT taking any drugs whichmay compromise the test results. Drugs that may increase test measurements include penicillin, barbiturates, oral contraceptives, and griseofulvin. Increased abnormal levels of urinary delta-ALA may indicate many types of porphyria. In addition increased levels may indicate lead poisoning. Decreased levels may occur with chronic liver disease.

Dr. Robert Johnson MD

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 judgement 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.

ENDODAN 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.
ENDODAN should be given with caution to patients with impairment of hepatic or renal function,or/and hypothyroidism. The drug is metabolized through the liver.

ZYPREXA is the brand name for the generic drug OLANZAPRINE. It is an antipsychotic drug. ZYPREXA has a warning in regard to being prescribed for patients with liver
disease. The drug is metabolized through the liver.

VISUDYNE or VERTEPORIN is a brand new drug used for the treatment of macular degeneration. PDT [photodynamic therapy] is part of the treatment process. VISCUDYNE or VERTEPORIN is a light activated drug. This drug should not be used by persons with skin photosensitivity, as this is the most common side effect of the drug, and would be harmful for those with cutaneous forms of porphyria.

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

ROXIPRIN 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.
ROXIPRIN 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.

ANTRA is a brand name for the generic drug OMEPRAZOLE. The primary use for this drug is presently for the treatment of Alzheimer's. The drug carries warnings and precaution for use in patients with liver disease. The drug is metabolized through the liver.

PROLIXIN is the brand name for the generic drug FLUPHENAZINE HCU which is in the drug class called a TRANQUILIZER. PROLIXIN is a trifluoro-methyl phenothiazine derivative. This drug runs the risk of Tardive dyskinesia [TD] with prolonged use. Also this drug runs the risk of Neuroleptic Malignant Syndrome [NMS] which is potentially fatal. Best not to be used by persons with convulsive disorders. A phenothiazine classification drug. Not recommended for persons with renal or hepatic disease. PROLIXIN is metabolized through the liver.

DESEC 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.

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.