Enlarge / A health care worker in a medical intensive care unit. (credit: Getty | BSIP)

Diagnosing medical conditions is not easy. Patients can have nondescript symptoms that could point to common problems as easily as rare or poorly understood ones. They can sprinkle in irrelevant details while forgetting crucial ones. And they can have complex medical histories and multiple conditions that can muddy the diagnostic waters.

But then, there are the rare cases of pure deception. Such was the case of a woman seen at Massachusetts General Hospital for intense pain and jerking movements. The woman's case record, published this week in the New England Journal of Medicine, documents the thorough investigation of her dramatic condition. Doctors' initial alarm at her symptoms led to puzzlement as inconsistencies and oddities piled up.

It began when the woman presented to another hospital complaining of abdominal pain, jerking motions in her right arm and leg that she worried were seizures, as well as confusion, agitation, a rash on her chest, and a dislocated jaw bone. She told doctors at that hospital that she had a history of acute intermittent porphyria and that her symptoms matched previous flares of the condition.

Porphyrias are rare disorders caused by genetic mutations that are usually inherited. The mutation affects an enzyme involved in turning compounds called porphyrins and porphyrin precursors into heme, which makes up hemoglobin, the iron-containing red protein in blood responsible for transporting oxygen. In people with porphyrias, the heme precursors build up, causing disease that can present as abdominal pain, arm and leg pain, paresthesia, weakness, and tachycardia.

The woman was admitted to the first hospital and began receiving treatment. But, the hospital was short on hemin—the standard treatment for porphyria—so she was transferred to Massachusetts General.

There, she told doctors a similar story, and they began treating her with hemin and other drugs, including morphine for the pain. She told doctors she was 25, though they noted in her records that she appeared older. She told them she had been diagnosed with porphyria 13 years ago and that the condition ran in her family. Her maternal grandmother had the condition, and one of her seven siblings was a silent carrier. She also noted that though she had been born in New England, she moved to the United Kingdom 15 years ago and was only in the area at the time to visit family.

Oddities

During the next two days, oddities started piling up. Despite doctors giving her the standard treatment for porphyria, her symptoms didn't improve. And her urinary PBG and porphyrin levels—which are typically elevated in cases of porphyria—were normal.

The doctors began to doubt that porphyria was behind the woman's symptoms. Instead, they considered bowel obstruction, biliary colic, appendicitis, or pancreatitis that could explain the abdominal pain. They thought about a medication or toxin, such as lead poisoning, causing some symptoms. There was also a consideration of withdrawal syndrome from being off morphine before her admission. But, the woman's symptoms also weren't improved by the morphine, ruling that possibility out. Nothing quite fit.

Meanwhile, there were more oddities. For one, the doctors couldn't confirm the woman's identity, and she did not identify any family or friends who could confirm her identity or vouch for her experiences.

She told the doctors she had been evaluated at a hematology clinic in the UK, but when the doctors contacted that clinic, it said it had no record of a patient with the same name. But the clinic told the doctors that it received "multiple telephone calls from hospitals in the United States requesting health information about female patients with similar histories of acute intermittent porphyria. The patients typically had different names but the same date of birth."

The pieces came together, and a diagnosis was made: factitious disorder.

Factitious disorder is characterized by a falsified illness and deception regarding symptoms, the doctors report. It often appears motivated by a patient's desire for attention or to reinforce experiences related to a sick role. Many of the patients diagnosed with the condition describe substantial histories of trauma.

Confrontation

A multidisciplinary team of doctors from medicine, hematology, and psychiatry services met with the woman. They presented their findings, including the information from the UK clinic, and their concern that she was deceiving them. She elected to leave the hospital and was discharged with no medication.

The same day, a woman with a different name showed up at the emergency department of an affiliate hospital, where she was treated for a dislocated ankle she said was due to falling off a dirt bike. Four days later, the woman returned to the hospital, complaining of a flare of acute intermittent porphyria—and she was admitted to the intensive care unit. A hematologist who worked at that hospital and Massachusetts General recognized the patient's symptoms. A photo of the woman from the initial case matched the woman using a different name. Again, a multidisciplinary team of doctors met with her and confronted her with their concerns of deception. She again elected to leave the hospital and was discharged with no medication.

But, things didn't end there, the doctors report:

During the subsequent months, five separate identities were discovered in this hospital and affiliated hospitals in New England. In addition, this hospital received telephone calls from two other hospitals in the mid-Atlantic region that were requesting collateral information about women with similar details in the patient history.

The woman is not unusual among factitious disorder cases, the doctors note. Up to 77 percent of patients never acknowledge their deception and, instead, disengage from doctors. More than 60 percent decline psychiatric follow-up care, though therapy has shown benefits for the condition.

"Ultimately, the prognosis is poor, given the increased morbidity and mortality related to feigning illness or undergoing unnecessary medical or surgical interventions," the doctors concluded.

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It is reportedly the first time it has ever happened at a Major League Baseball game: A player who left a game came back in. This is disallowed by the rules, yet nobody noticed. But did it happen?

The Red Sox were losing 16–3 in the top of the ninth. To avoid tiring out their pitchers, the team chose to have their first baseman Mitch Moreland take over as the pitcher.¹

The game was played in a league which permits a special player called the Designated Hitter, who bats in place of the pitcher.² If a player in the field takes over as the pitcher, the team loses the Designated Hitter for the remainder of the game, and the player who enters the game to replace the vacated position (in this case, first base) is considered to have substituted for the Designated Hitter, batting in seventh position in this case.

As the game drew to a close, it came time for the player in seventh position to come to bat, but instead of the replacement first baseman, the original Designated Hitter Chris Young came to the plate. (He hit a single, later advanced to second base, but made no further progress by the time the game ended.)

Under the rules of baseball, a player who has been replaced may not return to the game, but there it just happened. And nobody said anything. (Reportedly, the Orioles noticed but chose not to say anything.)

What makes this confusing is that I've seen two different game summaries, and they disagree as to whether Chris Young actually left the game.

In this game summary, if you go to Play-By-Play and scroll down to Baltimore Orioles – Top of 9th, you'll see

According to this game summary, Young did not exit the game but took over in left field. This is permitted according to the rules, in which case he retains his position in the batting order, and the new first baseman (Ramirez) takes over the batting position of the former left fielder.

If that game summary is correct, then nothing improper happened. It was definitely unusual, but no rules were broken.

On the other hand, this game summary does not mention that Young entered the game on defense. If that second summary is correct, then we indeed have a case of a player who left a game magically returning to it.

Does anybody know what actually happened?

Bonus chatter: The organization that runs professional baseball in the United States is called Major League Baseball, which is a bit of a misnomer because it actually a consists of two top-level leagues (the so-called National League and American League), as well as a number of lower-level minor leagues, so it should more properly be called Major Leagues Baseball. But nobody calls it that.

¹ Recently, position players are increasingly being called upon to pitch. This has historically been an uncommon occurrence and a source of amusement because, as a general rule, non-pitchers are not very good at pitching; that's why they're not pitchers. It typically occurs only in lopsided games where the team doesn't want to tire out their pitchers in a lost cause.

² As a general rule, pitchers are very poor at batting. To make the game more interesting, one of the professional leagues introduced a rule that allows a team to nominate another player to bat in place of the pitcher. Some people think this is a stupid rule.