Diagnosing medical conditions is not easy. Patients may have unremarkable symptoms that may indicate common problems as easily as rare or poorly understood problems. They can throw 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 instances of pure deception. Such was the case with a woman seen at Massachusetts General Hospital due to intense pain and jerking movements. The woman’s file, published this week in the New England Journal of Medicine, documents the thorough investigation into her dramatic condition. The doctors’ initial alarm about her symptoms led to confusion as inconsistencies and quirks piled up.
It started when the woman went to another hospital complaining of abdominal pain, jerking movements in her right arm and leg that she thought 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 were consistent with previous outbreaks of the condition.
Porphyrias are rare conditions caused by genetic mutations that are usually inherited. The mutation affects an enzyme involved in converting compounds called porphyrins and porphyrin precursors into heme, which forms hemoglobin, the iron-containing red protein in the blood responsible for transporting oxygen. In people with porphyria, heme precursors build up, causing illnesses that can present as abdominal pain, arm and leg pain, paresthesia, weakness, and tachycardia.
The woman was admitted to the first hospital and received treatment. But the hospital was short of hemin — the standard treatment for porphyria — so she was transferred to Massachusetts General.
There she told the doctors a similar story, and they began to treat her with hemin and other drugs, including morphine for the pain. She told doctors she was 25, though they noted in her file that she looked older. She told them that she was diagnosed with porphyria 13 years ago and that the condition runs in her family. Her maternal grandmother had the condition, and one of her seven siblings was a silent carrier. She also noted that although she was born in New England, she moved to the UK 15 years ago and was only in the area visiting family at the time.
Cabinet of curiosities
Over the next two days, the oddities began to pile up. Despite doctors giving her standard treatment for porphyria, her symptoms did not improve. And her urinary PBG and porphyrin levels – which are usually elevated in cases of porphyria – were normal.
The doctors began to doubt whether porphyria was the cause of the woman’s symptoms. Instead, they thought of intestinal obstruction, biliary colic, appendicitis or pancreatitis that could explain the abdominal pain. They thought a drug or toxin, such as lead poisoning, was causing some of the symptoms. There was also consideration of the withdrawal syndrome by not using morphine again before admission. But the woman’s symptoms were also not improved by the morphine, ruling out that possibility. Nothing quite fits.
