Porphyria Educational Services

Porphyria Educational Services Weekly Bulletin
Vol. 2 No. 47 November 26, 2000
FOCUS: Diagnosis of Abdominal Pain in Acute Porphyria

The majority of porphyria patients with a confirmed diagnosis can recall the unexplained abdominal pain that made it's presence known time and again, and often being made
to feel "suspect" or told that they were "imagining it" or that the pain was "all in their head".

Abdominal pain accounts for 42% of emergency department visits in a study that was made and a report that recently released. Physicians know well that hardly a day goes by that they have at least one patient presenting with a case of abdominal pain on their shift.

There are many possible causes for abdominal pain. For the physician, whether the family physician and primary care provider, or for the emergency room doctor, he challenge
lies in distinguishing between the seriously ill patients who require immediate attention and those who can safely be sent home. And what of this pain? What is it's cause?
And how often does this pain present?

Skillful history taking and physical examination are often sufficient for the task, although imaging studies may be needed such as xray, CT scans, MRI or doppler.Distinguishing between the different causes of abdominal pain will be the major task presented for the
physician.

Furthermore, interpreting important laboratory data, and ordering the right study to
affirm a diagnosis, is equally challenging and foremost.

When a patient presents several times fwith the same symptoms, often, all the information the physician will need to make the correct diagnosis will be contained in the history and physical exam. And one more step is to get a thorough medical history log of the patient's
family which includes the patients and sibblings. Here within lies the answer of possible
genetic disease.

Differential diagnosis as it is termed, is of foremost importance with a patient which
presents time and again with the same abdominal pain. The physician must rule out all of the following and can do so easily by asking the right medical history questions.

Diagnostic possibilities in acute abdominal pain include -- but are not limited to -- (1) acute cholecystitis, (2) appendicitis, (3) biliary or renal colic, (4) ectopic pregnancy, (5) intestinal obstruction, (6) pancreatitis, (7) pelvic inflammatory disease (PID), (8) perforated
peptic ulcer, and (9) ruptured abdominal aortic aneurysm (AAA).

Things to be kept in mind by the physician examining a hepatic porphyria patient are the cardiac risk factors especially if the patient complains of nausea and vomiting along with the abdominal pain. It is not the usual scenario for cardiac problems and more often is gastroenteritis. But abdominal pain can be life threatening and especially when it involves cardiac problems.

In examining a patient with unexplained abdominal pain, it is foremost to consider the
worst possibilities first as those require immediate intervention. Acute appendicitis
is always one of the first things to be considered on a check list. With a majority of
porphyria patients, their appendix was removed unnnecessarily because it was thought
to be the cause of thje abdominal pain at some earlier time. Intestinal blockage has
also often been an incorrect diagnosis for porphyic abdominal pain.

However, it is most important to begin hydration of a patient who is suspect for porphyria.
Long hours of waiting in an examination room only adds to the problem of the acute
attack. Early administration of glucose infusion will in fact reduce the pain index within
a few hours as it is the action of the carbohydrate infusion that corrects the over production of porphyrins in the liver. And while porphyric pain is not well understood, but nevertheless is a known factor, the administration of glucose will stop the overproduction of porphyrins and at the same time reduce the abdominal pain which signals the onset of acute porphyric attacks.

Porphyria is not an everyday scenario in the clinical setting unless a physician is a porphyria specialist. It is hoped that all primary care providers will keep an open mind in dealing with
unexplained abdominal pain. The signs are not alway clear cut, and porphyria does require a high degree of suspicion. But always remember that in porphyria patients that the pain
while hard to determine, is real, and not just a imaginary condition.

Differentiating PID from appendicitis is among the most difficult problems in an urgent care unit. medicine. More times than not, porphyria patients have had to undergo a laparoscopy
in order to rule out various medical conditions.

For women of childbearing age even with a given confirmed diagnosis, a beta [bHCG]
screening test for pregnancy should be administered. Ultrasonography can often help rule out appendicitis, ovarian cysts, and ectopic pregnancy.

Once again, obtaining a detailed history as you perform the abdominal examination is most critical. Porphyria patients should be asked to characterize the pain and describe its location, onset, and duration. Pain descriptions are subjective, and no report is diagnostic.
Many porphyria p[atients carry with them a pain rating index which will help with understanding the exact nature of the pain. The porphyria pain scale is used because often the porphyria patient as time before treatment lags, experiences increased weakness, may experience seizures, and mental confusion, and nausea and vomiting increases.
Dr. Robert Johnson, MD