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Porphyria Educational Services
Monthly Newsletter
November 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:Abdominal Pain as a Major Hepatic Porphyria Symptom.
     In the hepatic porphyrias there are many 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 x-rays, 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.

FOCUS: Porphyrinuria & Toxic Induced Porphyria
     Toxic metals induce porphyria. And toxic metals also cause cell injury in the human body. How does this occur and why? Why do two people test with high porphyrin elevations and one have porphyria and the other have what is term Porphyrinuria?

     Different molecular types of porphyrins that normally occur in the urine of healthy people can be determined in a laboratory to form a very characteristic pattern which is predictable time and again.

     During laboratory testing when an alteration of these usual predictable patterns are different because of an elevation in one or more of the porphyrins, there is what is called a porphyrinuria.

     Porphyrinuria is any elevation of porphyrins in the urine.

     Toxic metals perturb cellular organelle function. These metals also promote an increase in the reactive proxidants.

     In addition the toxic metals compromises the antioxidant and the thiol status.

     When this happens the toxic metals impair the enzymes as well as the other proteins.

     The bottom line in this whole process is that of a metal induced oxidant stress cell injury. Furthermore oxidation of porphyinogens to porphyrins which become known as porphyrinuria are remitted in the urine.

     Numerous toxic chemicals can be responsible for porphyrinuria. Both foreign and environmental chemicals play a big role in the scheme of things. Such chemical include hexachlorobenzene, dioxins a.k.a. TCDD, benzene, carbon tetrachloride, polyhalogenated biphenyls.

     In addition heavy metals are considered intoxications. These include drugs, mercury, arsenic and lead.

     Alcoholism is also a prominent intoxication.

     So when any of the above exposures has occured a porphyrinuria can be expected. Even normally healthy people can present with a porphyrinuria after an exposure to toxic metals.

     Porphyria, as a definitive diagnosis is used for specific clinical symptoms that are directly caused by an inherited mutation or defect in one or more of the enzymes that can be found in the heme biosynthesis.

     A terminology in a larger context which is applied for any disorder in porphyrin metabolism is that of Porphyrinopathy.

Dr. Don McDaniels Ph.D.
Bio-Chemistry & Genetics

FOCUS: The Problem with Fabric Softeners for Porphyrics
     Fabric softeners were thought to be a welcomed addition to the household detail of care for clothing and household linens. But that same wonderful invention has brought with it a living nightmare for many chemically sensitive people and especially for many people with one of the porphyrias.

     Now today there have been found numerous health risks associated with the use of fabric softeners. Yes, linens and clothing as soft and mostly wrinkle free, but what about those elements in the fabric softeners which bring these benefits about?

     There are many chemicals found in fabric softeners. Identification has been made of some volatile organic compounds. Some of these elements have direct effects on the central nervous system [CNS] of humans.

     Dryer exhaust vents which put the chemical toxins from the fabric softener sheets back into the air have been found to be very irritating to the mucous membranes of those who inhale the exhaust fumes.

     Some studies have shown that such fumes breathed deeply into the lungs can produce pneumonitis or even fatal edema. Some people have documented a loss of muscular coordination, while others cite respiratory depression. Many report headaches and nausea.

     And so just what are in these fabric softeners?

     Chloroform is one of the primary ingredients. Others include Camphor, Limonene, Benzyl alcohol, Ethyl acetate, and Linalool.

     Many of these are known to be carcinogenic, meaning that it can lead to cancer. All of them have effect on the Central Nervous System [CNS], which can cause vomiting, nausea, headache, dizziness, lowered blood pressure, and in some cases cause respiratory failure.

     Many will irritant the eyes, nose, throat and even the lungs. In addition some will cause confusion, twitching muscles and seizures.

     In the case of the chloroform, it can aggressively aggravate both kidney and liver disorders as well as cutaneous disorders. To a lesser degree the ethyl acetate can also cause liver and kidney damage.

     Some of these will cause a skin rash and prolonged skin irritation.

     Those involving the CNS will cause symptoms that include seizures, aphasia, blurred vision, disorientation or mental confusion, dizziness, headaches, hunger, memory loss, numbness in face, pain in neck and spine.

     Many common household products besides fabric softeners can cause problems for porphyria patients or others with pulmonary disease or chemical sensitivity. It is good to make a household inventory of such products and make family members and care takers aware of the potential harm that such products can trigger.

Deborah Mooney MSN, NP
Allergy & Immunology

FOCUS: Constipation - a Troublesome Porphyria Symptom
     During times of acute hepatic porphyria exacerbation's most often right along side the ever present abdominal pain, is that of constipation.

     Bowel movements will be infrequent, if at all. Any presentation will usually be in the form of hard stools. Presentation will be with a large degree of difficulty in the passing of the stools.

     Constipation in the porphyrias is just one of the many neurological conditions that presents.

     Part of the reason is dietary change that often occurs. Also the depression that some porphyria patients seems to present with carries along with it the problem of constipation as well.

     If the porphyria patients has been receiving narcotic medications such as the demerol for control of the pain associated with the disease, it too will cause constipation.

     Many porphyria patients will also experience dehydration during attacks because of prolonged nausea and vomiting, as well as the in ability to consume enough liquids.

     Other contributing factors can be the lack of ability to ingest enough fiber, and the fact that during attacks the porphyria patients most often finds themselves in an immobile state due to long periods of time spent in bed , as well as the inability to undergo much physical exercise.

     For the most part enemas or laxatives should be avoided. A laxative dependence can be developed and needs to be avoided. A stool softener is feasible for use in conjunction with ingestion of liquids. Dulcosate sodium is one such stool softener. The action of such brings in moisture to the stool and allows for the stool to soften. The stool softeners are not considered habit forming.

     For many porphyry patients the degree of constipation will resolve after a several hours of intravenous infusion which helps to restore hydration to the body.

Lyle Crosby PA

FOCUS: Struggling with Tiredness
     Many porphyria patients will mention the fact that they almost always feel tired and lament what they wouldn't do to get a good night's sleep. A quality sleep.

     Being tired is one of the most common conversation points. Such tiredness is difficult to describe. Porphyria patients tend to express it in a variety of ways, using terms such as "out of it", dragging, fatigued, tired, weary, drowsy, weak, exhausted, having a lack of energy, heavily burdened, slow, or worn out.

     Clinically such a medical condition is described as being characterized by distress or by having a decreased functional status related to a decrease in energy.

     Some tiredness is normal or expected. Such tiredness is described as having localized intermittent symptoms. Such tiredness will often begin rapidly and will last only a short time period. Having quality rest will usually alleviate the tiredness. In this type of tiredness following a period of quality rest the porphyria patient will return to a normal level of functioning.

     However for most porphyria patients, there is an ongoing chronic tiredness. Such tiredness is very persistent. This type of tiredness will last for weeks or months. There never seems to be an end in site.

     Such chronic tiredness is prolonged. This type of a condition is debilitating fatigue. At present the understanding of such tiredness in porphyria is poorly understood, but is recognized as a medical condition present in many hepaic porphyria patients.

     Such tiredness coupled with other CNS symptoms of porphyria have caused many porphjyria patients to discontinue working. Cognitive abilities are significantly lowered when a person does not have adequate rest and is feeling tired. Couple this with the mental changes, muscle weakness or loss, and the porphyria patients finds themselves less functioning individuals.

     Such tiredness may become a critical issue in their lives of porphyria patients. Always being tired may influence one's sense of well-being. The porphyria patients will focus in on their failing daily performance.

     Always being tired will also reduce the activities of daily living, relationships with family and friends. Often there is frustration which may lead the porphyria patient to want to give up entirely. It must be noted that suicide is a factor that has been cited in the acute porphyria.

     Financial resources may become limited as people suffering from ongoing tiredness and other aspects of porphyria find themselves frustratingly trying to get into disability programs.

     Medical treatment may become compromised due to difficulties in maintaining health insurance. Without coverage many porphyria patients can not maintain Preventive Glucose Infusion Therapy which is an aggressive treatment which has proven to prevent the more severe acute attacks and long periods of hospitalization.

Liz McAllister MSN, NP
Sleep 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.

NILSEC 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.

SETPRIN 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.

ALEVIATIN 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.

MARPLAN is the brand name for the generic drug ISOCARBOXAZID. The drug is an antidepressant. It is metabolized through the liver. Periodic liver chemistry tests should be performed during Marplan therapy; use of the drug should be discontinued at the first sign of hepatic dysfunction or jaundice. Marplan should not be used in patients with a history of liver disease, or in those with abnormal liver function tests.

PAXIL is the brand name for the generic drug PAROXETINE. This drug is part of a classification called selective serotonin reuptake inhibitors. It is used to treat depression and other psychological disorders. This drug contains a warning for persons with liver disease, kidney disease, seizures or suicidal thought. The drug is metabolized through the liver.