September 2003 PES Bulletin

Abdominal Pain in the Acute Hepatic Porphyrias

Abdominal pain is is almost universal among patients who are diagnosed with one of the various forms of acute hepatic porphyhria, those being AIP, VP and HCP.

In a study published in "Scientific American" on "The Porphyrias" in 1996 it was found that 90 percent of acute porphyria patients experience the abdominal pain associated with the onset of an acute attack. The abdominal pain is experienced by those who never fully go into remission and are termed "chronic smoldering" porphyrics.

Ab pain, as it is most often called can be described as an old fasioned "belly ache.; Women often will relate that it is like menstrual or labor associated abdominal cramps. Men will most often call it stomach pain or gut pain. In the acute porphyrias however it is all related to abdominal pain of which there remains very little medical understanding. It is known that it is real, but little is know of it's exact cause, except it presence.

Most often it is referred to as upper right quadrant pain, some the lower right quadrant. Such abdominal pain is a nonspecific symptom. This means that such abdominal pain may be associated with a multitude of conditions.

In general abdominal pain origin's can be quite varied. Some abdominal pain does not occur within the abdomen itself but its cause will cause abdominal discomfort.. Other abdominal pain will originate within the abdomen but is not related to the gastrointestinal tract. Other pain is related directly to the gastrointestinal tract.

And many porphyria patients have experienced emrgency room evaluations where first response physicians thought such pain to be the appendix and some porphyrics have indeed gone under the knife and had the appendix removed to no avail. It was not the appendix causing the pain. However If the attending physician finds evidence of peritoneal inflammation, the abdominal pain may be classified as an "acute abdomen" which often requires prompt surgical intervention. Unfortunately, all too many porphyria patients have had to undergo unnecessary surgical procedures only to find that the pain presents over and over again.

Emergency room personnel should always have a high degree of suspicion when a patient presents with such abdominal pain without any specific diagnosis. If the patient is a repeated admit with this the same pain manifestation, appropriate testing for the porphyrias should be immediately started.

Because abdominal pain is nonspecific, the attending physician will require specific information regarding the time of onset, duration of pain (minutes, hours, days, or even months), location of pain, nature of pain (dull, sharp, steady, crampy, off and on), severity of pain and relationship to normal functions such as menstruation and ovulation Often in women acute attacks of porphyria have an onset a week to 10days prior to the menses.

When porphyria patients present to the emergency room they should carry with them charting which describes their overall medical history. Often hospitals do not have access to clinical charts where a patient's overall medical history is contained.

The reason for carrying such charting is that the attending physician will try to relate the abdominal tenderness to other general symptoms such as fever, fatigue, weakness, nausea, vomiting, malaise, or changes in stool. They will also almost always ask about increasingly specific symptoms as the diagnostic considerations are narrowed.

Even if a patient is sure that is still another porphyria attack beginning, it is never to be assumed that it is just porphyria. Unfortunately, like everybody else, porphyria patients experience other medical conditions as well. For instance, abdominal pain, nausea and bloating or constipation may indicate a bowel obstruction. And as you read this, it reads just like porphyria. And again, abdominal pain followed by nausea/ vomiting and fever may indicate appendicitis.

When experiencing the abdominal pain, sip water or other clear fluids. Do avoid solid food. until after you have been examined. Also avoid narcotic pain medications, aspirin and NSAIDS. Antacids may provide some relief.

A physical examination with a focus on the abdomen will be performed. Observation in the hospital may be required in severe cases. If pain persists, re-evaluation will be necessary. Once other conditions have been ruled out administration of iv glucose can begin either at the hospital or at home, depending on what porphyria treatment plans you have in place.

For those who only think it may be porphyria or even if you know it to be but are without a confirmed diagnosis, chances are great that some medical professional will want to further explores the abominal pain.

It is not unusual for many porphyria patients to have a history that has included blood, urine, and stool tests which are normally done anyhow; barium enemas, upper GI and small bowel series, endoscopy, ultrasound of the abdomen, upper GI (gastrointestinal) tract (EGD) probes, X-rays of the abdomen or an ultrasound of the abdomen.

Abdominal pain for most porphyria patients unfortunately is a signal that another acute attack is pending

William SImpson, PA

Sulfonamides are Contraindicated for Porphyria Patients

Sulfonamides have long been used in the treatment of infections in what we know as the commonly healthy person. This drug is usually used in combination with with trimethoprim in the treating of many everyday common infections. It is especially known for use in the treatment of urinary tract infections, bronchitis, traveler's diarrhea, and middle ear infection.

This drug combination is also known for it's use in the treatment for one form of pneumonia commonly referred to as PCP.

While sulfonamides are used widely in treatments of normally healthy persons, the sulfa drugs pose a high risk for porphyria patients and are considered contraindicated for use by patients with porphyria. Sulfa has long been known as a precursor of acute attacks in porphyria patients.

One common form of this drug combination is known as Bactrim, and another well known one is Cofatrim Forte. Other well known brand names include Cotrim, Septra, and Sulfatrim.

It is good for porphyria patients to become familiar with these potentially harmful drugs because of the fact they contain sulfa.

In normally healthy patients, this drug combination will yield goods results for many patients. However in the porphyria population the use of any pharmaceutical containing Sulfonamides is contraindicated.

The use of sulfa drugs has long been thought to be a trigger of acute attacks of porphyria.

Margo Wilkinson MSN, RH
School of Pharmacology

DDT Still Used in Third World Countries

It has now been several years since the use of DDT was banned in the United States, however the substance is still used widely in Third World countries.

While porphyria patients are now traveling more outside of the United States, porphyria patients must remember that DDT exposure can be a severe trigger of acute porphyrias.

The cruise ship industry has now wide acceptance of porphyria patients and several lines with clinical and hospital facilities can easily care for the needs of porphyria patients with advance notice.

While no research studies focusing on DDT have been specific to persons with porphyria, It is well known that hepatic porphyria patients are more likely to react more severely to DDT..

It is known that DDT has the potential to produce chromosomal changes including chromosomal aberrations and micronuclei.

In humans, the genotoxic effects of malathion are still being studied.

DDT is quite apparent in blood serum chemical toxicology tests which have been carried out at various testing centers.

It is known that DDT can produce cytogenetic damage. In poprhyria patients there are all ready chromosomal aberrations. With exposure to DDT there is the possibility of even more chromosomal aberrations.

A few research studies of DDT have dealt directly with point mutations in standard gene mutation assays in both plant life and mammalian tests.

While to date no conclusive or specific findings have been made in regard to DDT and porphyria as a triggering agent, persons with porphyria are well advised to refrain from any contact with DDT whether inhaled, ingested or absorbed.

Always be sure that any food subtances are washed, peeled and or fully cooked before eating in a Third World country.

Scott Jenson, PhD
Chemical Toxicology

PCT: A LIfe of Blistering, Rash and Avoiding Sun

PCT is the most prevalence form of porphyria found worldwide.

Some of the chief triggers of PCT are the use of estrogens, and alcohol. Many PCT patients have hepatitus or cirrhosis of the liver in association with their porphyria.

PCT can be either inherited or acquired. Today the acquired form of PCT is increasing as people become more exposed to environmental chemical toxins.

In the PCT type of porphyria the most common manifestation is that of skin problems. The most common lesions are those of vesicles which are otherwise known as blisters.

A vesicle is a thin-walled sac filled with a fluid.The fluid is usually clear and ranging in size from pinpoint to 10 millimeters in diameter. As a rule, the term vesicle is usually used to describe small blisters, while the term bullae is used to describe larger blisters.

In addition the vesicle is an important term used to describe the appearance of many rashes that typically consist of or begin with tiny-to-small fluid-filled blisters.

Many PCT patients have been mistakenly diagnosed with rosacea when examined before the disease exacerbates.

Typical illnesses beside porphyria cutaneous tarda that begin with vesicular eruptions are cold sore (herpes labialis),genital herpes, shingles (herpes zoster), and chicken pox.

These eruptions have the appearance of area or patches or otherwise called crops of vesicles. Because of the similar crops of vesicles it sometimes makes a diagnosis of PCT hard when based upon the skin appearance alone.

Contact dermatitis may first show up with tiny vesicles that itch or burn. A typical example of contact dermatitis would be something like poison ivy. It begins with tiny vesicles that enlarge rapidly, rupture, ooze for a period of time, and finally crust over and heal.

In PCT these eruptions often lead to massive scarring. In PCT the skin remains thin and fragile and will easily break.

Lillian Morrison, PA
Dermatology