One day in my junior year at medical school, one of our very wise and experienced professors said, “Students, you need to know that rare diseases occur commonly.”  There was a pause as everybody tried to figure out what he had just said.  It seemed that he didn’t understand the words common and rare.  A few of the students snickered thinking this old professor was losing it.

 He continued, “If you see twenty patients in a day, on the average one of these will have a rare and undiagnosed condition. This person will be ineffectively treated until you achieve the right diagnosis.  Know that not every patient who has pain in the right upper part of the abdomen has a gallbladder problem.  Not every person with chest pain has a heart attack.  Not everyone with a sore throat has a simple strep throat.  Your job as physicians is to ferret out those rare conditions in patients that have common symptoms.”  The case described below illustrates this point in a gentleman who was recently admitted to the hospital.

  This was a man in his 60’s who had repeated attacks of abdominal pain over many years time.  On at least eight different occasions, he had been hospitalized to provide relief from these episodes of severe disabling abdominal pain.  Most recently it had been noted that he had gallstones that were then removed, believing they were the cause of the abdominal pain.  Unfortunately, his episodes of abdominal pain occurred two more times in the next several months.  He was also substantially overweight, diabetic, and was described as having strange behaviors intermittently especially right before he would get the episodes of abdominal pain.  He also had numbness in his legs and his feet that had been attributed to the nerve problems that come with diabetes.  Now the physicians caring for him were faced with a gentleman who continued to have severe disabling abdominal pain lasting 2-3 days and then resolving with no diagnosis for the cause of his pain.

 There is a disease called acute intermittent porphyria.  The gentleman’s story above fits this diagnosis perfectly.  The diagnosis can be made if the right test is done at the time the gentleman is having an acute attack of abdominal pain.  When he came to the hospital on the most recent occasion, this definitive urine test was done and demonstrated that he did indeed have acute intermittent porphyria.

 The importance of this diagnosis is that treatment is available to prevent the abdominal pain attacks and to treat them once they have occurred.  When the right diagnosis was made and specific treatment provided, this gentleman’s symptoms were alleviated.  In addition, advice was provided on how he can avoid attacks of abdominal pain in the future.

 The point of this column is to alert patients and healthcare providers that “rare diseases occur commonly.”  I am reminded of a recent situation in which a lady came to the emergency room with a 103° fever and a sore throat.  Her throat was checked for streptococcus and was negative.  The unsuspecting healthcare provider told her she had a simple upper respiratory tract infection that was not streptococcus and therefore did not require an antibiotic.  This poor lady died the next day in overwhelming blood poisoning secondary to a bacterial infection that had gone undiagnosed by the healthcare provider the day before.  By far, the most common thing seen in an emergency room is the patient with a sore throat.  Ninety-nine percent of them are either streptococcus or another organism that will be easily treated.  Rarely, a person comes in with something much more dangerous and the healthcare provider is challenged to recognize that person and treat them effectively while there is still time.

 But be careful!  It is not appropriate to treat every sore throat as if there is an overwhelming bacterial infection or treat every abdominal pain as though they have acute intermittent porphyria.  This is where the skill and the experience of the healthcare provider shine through.  An experienced skillful healthcare provider can analyze a patient and know that there is something else going on in those rare situations where something dangerous is occurring.

 To finish this column, it might be pointed out on a somewhat lighter note that not all rare disease is bad.  Historians have speculated that King George III, who was king of England at the time of the American Revolution in 1776, had acute intermittent porphyria.  At a time when King George III should have been paying attention to these unruly revolutionaries in America, he was having abdominal pain and episodes of irrational behavior.  He passed off the American Revolution as a “skirmish not worthy of his attention”.  Resources necessary to put down the rebellious Americans were never authorized by King George III and the rest is history.  In that sense, maybe acute intermittent porphyria isn’t such a bad thing after all.