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Diagnosis of the Porph Monster

Scott E. Selph

Jacksonville, Florida

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This letter was written for me by Dr. William E. Morton of the Oregon Health Sciences University. It is a second opinion of my diagnosis off the lab work I sent him from University Medical Center, which is now Shand's Hospital. The letter is rather lengthy, but please take the time and read it's entirety, it has some very helpful information. I have spent a great deal of time learning and trying to understand this disease. Feel free to E-mail me concerning this disease and I will try to answer or send you where you need to go. Or if you just need a shoulder to cry on, or just need to talk. I answer all E-mails. Please sign the guestbook at the end.

Dear Mr. Selph:

Because of some local medical disagreement over whether or not you have porphyria, you have asked for my opinion on the subject. I understand that you are a 30-year-old diesel mechanic and former cabinetmaker. Since 1991 you have been having intermittent and sometimes severe abdominal pain. Constipation has alternated with diarrhea. Gastrointestinal x-rays and endoscopies have been consistently negative except for modest degrees of gastritis. In 1995, a severe attack of abdominal pain and weakness led to hospialization and a suspicion of porphyria by Dr. Adam Pickett. Blood test showed marginal deficiencies of three porphyrin enzymes: coproporphyrinogen oxidase, uroporphyrnogen synthase and ALA dehydratase. Blood uroporphyrinogen decarboxylase erythrocyte porphyrin fractions were not measured. Urine tests showed excessive coporphyrins and a marginal increase of porphobilinogen. Fecal porphyrin measurements showed relatively marked increases of isoheptacarboxylporphyrin and isohexacarboxylporphyrin, as well as modest excess of coproporphyrins and pentacarboxylporphyrins. On this basis he was diagnosed as probable coproporphyria by Dr. Lawence Solgerg Jr., a Jacksonville Mayo Clinic hemotologist. In my opinion, the stool porphyrin pattern was indicative of a dual porphyria triat, probable porphyria cutanea tarda (PCT) in addition to coproporphyria.

Persons with PCT (uroporphyinogen decarboxylase deficiency) often have severe intolerance to sunlight, with blistering and scars, but many PCT patients have lesser degrees of reactivity such as a simple erthematous rash or small bumps. I understand that sunlight does not cause you to blister or get a rash but does make you feel abnormally weak. You have continued to have intermittent symptoms, at which times you have noted red or purple urine discoloration.

Early last spring your mobile home was remodeled which included installationn of a new carpet. In April you developed severe weakness, syncopal episodes, severe abdominal pain raditing to the chest, headache, and pain and transient loss of sight in the left eye. Because you passed out at work, you have been unable to return to work since May. Anorexia has led to weight loss from 165 to 135 pounds. Repeated urine and ALA tests have been negative (which rule out nothing), and you have been unable to secure approval for the indicated fecal porphyrin measurements. On this casis your most recent physician has doubted your diagnosis of porphyria and is said to believe your symptoms are "all in your head". In the last six-eight months you have developed reactivity to bleach, fragrances, polish remover, hairspray, petroleum products and exhast fumes. your symptoms are undoubtedly aggravated by the new carpet in your home.

Your father also had recurrent abdominal pain and was suspected of having porphyria, though never tested. He reacted to sunlight with rashes and was reactive to a member of medications. A paternal aunt has had similar symptoms. Thus, there is likely a genetic basis for your porphyria.

In summary, you have a characteristic history of porphyria symptoms, and there is definite laboratory confirmation of porphyrin metabolic disorder, although it was bnot completely diagnosed. Current confirmation of the origin of your symptoms requires a fecal porphyrin measurement (best done by Mayo Lab) at a time when your symptoms are active. Urine ALA and porphobilinogen tests will not be helpful. Although all PCT patients have uroporphyinogen decarboxylase (UPG-D) deficiencies in liver cells, only about half will manifest UPG-D deficiency in red cell, so that blood test may or may not be abnormal in your case. Given the evisence on record, negative urine tests do not exclude the reality of your condition.

Of all person with porphyrin enzyme deficiencies, about 10% have acute severe attack of symptoms, 25% have chronic smoldering symptoms, and 65% have latent asymptomatic conditions. All are susceptible to symptom activation by porphyogenic substances. Many porphyria experts diagnose only the scute severe attacks and do not recognize the chronic cases, such as I believe you have.

The Porphyrias are a group of enzyme deficiencies which are usually but not always hereditary and are commonly asymptomatic until exposure to porphyrogenic substances seems to blockade the metabolic process, resulting in porphyrin accumulation. Thses abnormal porphyrins cause mostly neurologic and phychiatric symptoms.some porphyria cases have recurrent acute attacks of symptoms, while others maintain continuing chronic symptoms. Persons with porphyria traits are abnormally susceptible to porphyrogenic dubstances. Once activated, porphyria symptoms do not always stop when the initiating exposure stops.

Your susceptibility to porphyrogenic substances is permanent, so measures to prevent activation of symptoms are important. You and your physicians will need to learn to avoid porphyrogenic substances (see list below).

Some porphyria patients can minimize symptoms on a vegetarian diet and frequent glucose intake. Fasting or skipping meals seems to aggravate porphyria symptoms, so should be avoided. Severe acute pain problems can be treated with intravenous dextrose fluids (add 50ml. of 50% glucose to a unit of 5% D/NS, repeat as needed).

Because this condition of susceptibility is probably a hereditarytrait, other blood relatives can be expected to have it too, even though they have no symptoms. Your children and sibilings would each have about a 50% chance of having this same enzyme deficiency. If identified, susceptile persons without symptoms could learn what to avoid to minimize the chances of getting symptoms in the future.


Wm Morton

William E. Morton, M.D. Dr .P.H.


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