Doctors at Massachusetts General Hospital have described how they solved a medical mystery, figuring out that their patient had been faking a rare genetic disorder. The recently published case report details how a woman turned up with some alarming symptoms, but as the medical team began to investigate, things just didn’t add up.
The patient first went to a different hospital, complaining of abdominal pain, nausea, involuntary jerking movements of her right arm and leg, a skin rash, and feelings of confusion. Her jaw was dislocated, which the patient claimed had happened five minutes before she arrived when her arm and leg started shaking again.
This sounds pretty scary, but the patient claimed to have an explanation: she told doctors that she’d experienced all this before and that it was part and parcel of a chronic disease called acute intermittent porphyria (AIP).
AIP, like all types of porphyria, is a genetic disorder that affects the synthesis of heme, a molecule that is essential for the production of hemoglobin in the blood. Enzymes convert precursor compounds into heme, but in cases of AIP, there aren’t enough of these enzymes around, so the precursors start to build up. It’s this buildup that causes symptoms in many different areas of the body, but these almost always include severe abdominal pain.
People with AIP can go months between attacks, and the attacks can look very different in different people, making it a challenge to diagnose. The woman in this case claimed to have a family history, saying her maternal grandmother had had the disease.
The usual treatment for an attack of AIP is a drug called hemin. The hospital treating the woman did not have enough of this drug on hand, though, which is how she ended up being transferred to Massachusetts General. Very quickly after starting treatment, the doctors there began to realize that some of the facts of the case just didn’t make sense.
For starters, a lot of what the patient was experiencing didn’t fit with the diagnosis of AIP that she claimed to have. “Her rashes are not typical of acute intermittent porphyria, although similar rashes have been associated with other forms of porphyria,” explains Dr Leigh H. Simmons in the case report. “Her pain and neurologic symptoms are not alleviated by standard treatment with hemin and dextrose infusions, nor by morphine.”
Other medical possibilities that could explain the woman’s symptoms were considered, but the more the medics tried to investigate her history, the more red flags popped up.
The patient was born in the US but said she had been living in the UK for the last 15 years. She gave details of a clinic that had treated her in the UK, but when the team contacted them for information, they had no record of a patient with her name. They had, however, received multiple previous requests for information from hospitals in the US, each one regarding a female patient with AIP with the same date of birth as the patient in this case.
These revelations led the team to bring in a psychiatrist colleague to evaluate the patient, and finally, a diagnosis was reached: not AIP at all, but factitious disorder.
According to the case report, factitious disorder typically involves “exaggeration or invention of symptoms, induction of illness through ingestion or injection of substances, falsification of studies and medical records, or exacerbation of genuine medical findings through deliberate nonadherence to treatment.”
When confronted with the team’s findings, the woman did not own up to her deception but chose to simply leave the hospital – it’s estimated that over three-quarters of patients with factitious disorder don’t admit that they’ve been faking, even when all the evidence is in front of them.
While this case is a win for the investigative skills of the medical team, the experience did not deter the woman. Shortly afterward, she turned up at another hospital – once again claiming to be having a flare of AIP – and was admitted to intensive care. She was found out when a hematologist who worked at both hospitals recognized her details.
This tale might read like an entry in the House, M.D. casebook, and it would be easy to dismiss such stories as interesting oddities; but, while a formal diagnosis of factitious disorder is rare, the outlook for these individuals is not great, as the team explains in their report.
“Ultimately, the prognosis is poor, given the increased morbidity and mortality related to feigning illness or undergoing unnecessary medical or surgical interventions.”
The study is published in the New England Journal of Medicine.
[H/T: Ars Technica]