A 32-year-old female presented to the Emergency Department because of myalgia, muscle weakness, and severe abdominal pain often associated with nausea. Similar episodes had occurred since she was 18. She also complained of previous bouts of depression. She stated that these symptoms would occasionally disappear, but always returned especially around the onset of her menstrual period. Prior to her current episode, she had been prescribed antibiotics for a urinary tract infection. Routine blood and urine laboratory results were normal as well as a CT scan of her abdomen and pelvis. Two days after admission, the physician was notified by the clinical laboratory that her urine sample had turned a deep red color after sitting on the laboratory bench.
1. What is a likely diagnosis of this patient’s disorder based on the preliminary data?
The likely diagnosis of this patient’s disorder based on the preliminary data provided above is the one of the acute porphyrias. (Bishop, Fody, & Schoeff, 2013)
2. What additional tests should be performed?
The additional tests that should be performed are the urine ALA and PBG. Both are distinct markers and appear in elevated levels, but may appear within normal ranges between attacks. Electrolytes can also be tested for any abnormalities. Conditions like hyponatremia that occur during the attack can be useful in diagnosing. Hydroxymethylbilane synthase (HMBS) can also be used as a diagnosis tool. (Bishop, Fody, & Schoeff, 2013)
3. What two specific analytes would aid in the differential diagnosis of this patient’s condition?
The specific analytes that would aid in the differential diagnosis of this patient’s condition are ALA and PBG. ALA and PBG are only seen in excess in the urine of a patient suffering from AIP, but not in ADP. (Bishop, Fody, & Schoeff, 2013)
4. Why did this patient not experience cutaneous symptoms?
The patient did not experience any cutaneous symptoms