Patient Presentation
A 25-year-old woman with a history of acute intermittent porphyria presented to the hospital with diffuse abdominal pain, nausea, confusion, agitation, and jerking movements of the right arm and leg. She also had a rash on her chest. The patient had been managed in two different countries and had a history of obesity, anxiety, and chronic pain. Two previous flares of acute intermittent porphyria had been treated with hemin infusion, and the patient had a severe reaction to the first infusion.
Differential Diagnosis
Acute intermittent porphyria is the primary differential diagnosis, but the patient's rashes and poor response to standard treatment with hemin and dextrose infusions raise doubts about the diagnosis. Therefore, it is important to confirm the diagnosis by checking the urinary PBG and porphyrin levels. Intraabdominal inflammation or infection is also a consideration and should be ruled out with cross-sectional imaging.
Evaluation for Acute Hepatic Porphyria
Testing for acute hepatic porphyria, such as acute intermittent porphyria, should be performed when a patient has undiagnosed abdominal pain or nonspecific neurologic symptoms. First-line testing involves measuring urinary PBG and porphyrin levels. Elevated porphyrin levels are nonspecific, and the urinary PBG level should exceed 10 mg per gram of creatinine during acute attacks of porphyria. Second-line testing involves confirming the diagnosis and differentiating the type of acute hepatic porphyria. Genetic testing can confirm the diagnosis and identify the familial pathogenic variant.
Management
The patient was treated with intravenous morphine, diphenhydramine, lorazepam, ondansetron, dextrose, and hemin infusion. However, the patient's symptoms did not improve after 2 days of hemin infusion. A consultant with expertise in porphyria should be involved to determine whether the patient's severe pain reaction to a hemin infusion is common and how to interpret the normal urinary PBG and porphyrin levels. Cross-sectional imaging should also be considered to rule out intraabdominal inflammation or infection.
Medication or Toxin
In a patient presenting with possible seizures, diphenhydramine and lead poisoning should be considered as possible causes. The excessive use of diphenhydramine can cause myoclonus, while lead poisoning can be identified by normocytic anemia, elevated aminotransferase levels, and basophilic stippling in laboratory data.
Factitious Disorder
Factitious disorder should be considered in patients who have inconsistent medical histories, do not allow access to collateral information from family and friends, have symptoms that are not responding to standard treatments, and have been to multiple healthcare facilities. Abdominal pain and seizures are common symptoms reported in patients with factitious disorder. Electronic health records can be a useful tool for diagnosing factitious disorder, and a detailed interview and request for medical records should be performed.
Hospital Course
Concern about deception syndrome can arise in patients with unexpected changes in their course of illness, inconsistent collateral information, or emerging evidence of a primary or secondary gain. Factitious disorder is a diagnosis that can be made only after ruling out other disorders. Deliberate and purposeful deception is the key finding in factitious disorder, and the absence of a clear benefit, where the feigning of symptoms appears to be motivated by the patient's desire for attention or to reinforce experiences related to a sick role, is indicative of factitious disorder. Containment, including involuntary psychiatric hospitalization, can be considered as a therapeutic option for patients with factitious disorder.
Conclusion
Factitious disorder was the final diagnosis in a patient who presented with multiple identities and inconsistent collateral information from different hospitals. Electronic health records can be a useful tool for diagnosing factitious disorder, and a multidisciplinary meeting that includes medicine, hematology, and psychiatry services should be held with the patient. A photograph of the patient's face can be used to confirm the diagnosis, and containment can be considered as a therapeutic option for patients with factitious disorder.
Simmons, L. H., Nisavic, M., & Dickey, A. K. (2023). Case 13-2023: A 25-year-old woman with abdominal pain and jerking movements. New England Journal of Medicine, 388(17), 1609-1615.