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Implantation of the embryo outside of the uterus
2%
1/46
Inflammation of the appendix
Inflammation of the pancreas
0%
0/46
Mutation of the porphobilinogen deaminase enzyme
85%
39/46
Obstruction of the cystic duct and subsequent inflammation of the gallbladder
7%
3/46
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This patient has acute intermittent porphyria (e.g., episodic abdominal pain, port-wine colored urine, and polyneuropathy that is precipitated by alcohol). The condition is due to mutation of the enzyme porphobilinogen deaminase, which leads to an accumulation of porphobilinogen and aminolevulinic acid. Acute intermittent porphyria (AIP) is an acute neurovisceral porphyria that results from the accumulation of heme precursors due to a specific enzyme deficiency. Symptoms of the disease are often vague and nonspecific; therefore, diagnosis of the condition is challenging. Though variable, clinical presentation often includes acute attacks of abdominal pain, peripheral neuropathy, autonomic irregularity (e.g., hypertension or tachycardia), and reddish-brown urine. These attacks are intermittent and may be precipitated by certain drugs, alcohol, or starvation. Diagnosis is made via the presence of urinary porphobilinogen and confirmed via genetic testing and/or enzymatic activity. Incorrect Answers: Answer 1: Implantation of embryo outside of the uterus describes ectopic pregnancy, which can present with severe abdominal pain. This patient does have risk factors for ectopic pregnancy (e.g, unprotected sex and previous pelvic inflammatory disease). However, her other symptoms (e.g., bloody urine and paresthesia) and her past episodes suggest AIP. Answer 2: Inflammation of the appendix describes appendicitis, which usually presents with acute abdominal pain. However, the pain is often localized and would not have the other associated symptoms seen in this patient. Answer 3: Inflammation of the pancreas describes pancreatitis, which can be precipitated by binge drinking. However, this patient’s other symptoms suggest AIP. Answer 5: Obstruction of the cystic duct and subsequent inflammation of the gallbladder describes cholecystitis. The pain associated with this condition is often localized at the right upper quadrant and does not present with the associated symptoms this patient is experiencing. Bullet Summary: Acute intermittent porphyria is due to a mutation of the porphobilinogen deaminase enzyme.
4.7
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