Porphyrins are naturally occurring chemicals found in the body; normally they do not accumulate. When they do accumulate, they become toxic and result in turning into different types of porphyria. It is almost impossible to make general statements that apply to porphyria. Diagnosis is often delayed because the symptoms are so general. One common symptom is abdominal pain and most often misdiagnosed as appendicitis. Back and leg pain are also a common complaint.
Other symptoms are neurological, and when presented together, are often treated as though "it's all in your head." In fact, the typical drugs an ER would give a person suffering from these symptoms would bring on or intensify the porphyria attack. In a list prepared by Dr. Karl Anderson at UTMB in Galveston, Texas, some of the drugs that are unsafe for porphyria sufferers include barbiturates, sulfa drugs, alcohol, tranquilizers, and even progesterone.
Diet, sun exposure, and chemicals can intensify symptoms. Limiting calories and carbohydrates can trigger attacks. In fact, this is one disease that actually benefits from increasing your carb intake to 55 to 60 percent of total energy intake.
Another common symptom is dark urine. “Porphyrin” and porphyria come from the Greek word “porphyrus” meaning purple. Many, but not all, people with porphyria have the tell-all sign of their urine turning dark when exposed to light. This coloring is due to the excess porhyrins in the urine. One way doctors diagnose porphyria is a urine-screening test for porphyrins and porphobilinogen (PBG). If the PBG level is high the patient may have porphyria and the next step is a more specific 24-hour urine collection. I personally have had this test, and it is complicated. The urine must be collected in the dark, kept refrigerated, and needs to have a preservative added. This particular test must be done under strict clinical conditions or the results are useless.
Porphyria sufferers usually are light sensitive, which accounted for the disease being referred to as "Vampires Disease" years ago. Doctors thought because the sunlight bothered these patients that they must be some kind of creature! We have come a long way, but 3 out of 5 times that I take my porphyria-suffering mother to the emergency room, we are treated as if she is a hypochondriac or a drug abuser. Demerol is about the only safe painkiller those with porphyria can use, and hospitals DO NOT like to dispense it without a major reason. Even with her doctor’s orders, they still try to get my mother to take less of a dose than her doctor advises.
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