A 55-year-old is looking for help with severe abdominal pain in the emergency department of the University Hospital of Minneapolis. Unfortunately, stomach ache is nothing new to her: for more than 20 years she has been in such pain again and again. But now it is worse than ever.
The woman can give the doctors the reason for her complaints: She suffers from an acute intermittent porphyria, a congenital metabolic disorder. She has been living with this diagnosis for over two decades.
Again and again stomach ache
The disorder can cause constipation pain at irregular intervals. Affected then usually suffer from nausea, vomiting and constipation. Also typical are neurological consequences. For example, sufferers suffer seizures or paralysis, the latter can also hit the respiratory muscles. Then the disease can even lead to death.
The 55-year-old seems to have been lucky in this regard, so far her no neurological problems known. However, her abdominal pain was sometimes so severe that she lost consciousness. However, she has not been in hospital because of these complaints since she received the diagnosis.
In the next two weeks she will be in the clinic three times. She receives painkillers, nausea medications, and she is given intravenous fluid. Gradually, she recovers.
Unusual blood levels
However, on their last visit to the clinic, doctors notice abnormal blood levels, as reported in the American Journal of Medicine. The values of certain liver enzymes are increased, as well as the amount of so-called bilirubin, a bile pigment. In addition, the patient now reports pain, which is located slightly higher up in the stomach on the right side. That makes the doctors suspicious.
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The doctors perform an ultrasound - and discover gallstones and an enlarged bile duct. They then examine the gallbladder using a special method, endoscopic retrograde cholangiopancreatography - ERCP for short. They push a probe, an endoscope, through the mouth through the stomach into the duodenum and inject contrast into the bile duct opening there. Then the doctors make radiographs of the gallbladder, whose structures are emphasized by means of the contrast agent.
In fact, gallstones are stuck in the large bile duct. The find explains the complaints of the 55-year-olds - their recurrent abdominal pain as well as the last-noticed blood values. For safety, the doctors check a urine sample, which gives the patient in a pain phase. A value that should be conspicuous with an acute porphyria thrust is in her normal range.
Now it is clear: The woman has no porphyria, but gallstones.
Surgeons remove the patient's gallbladder, which is a useful remedy for recurring gallbladder problems. Subsequently, the woman recovers without further incident.
The team around Donna Coetzee reports the case, because it wants to point out how treacherous it can be because of an already established diagnosis no longer thinking about whether another disease can explain a patient's complaints.