Diagnosing medical conditions is not easy. Patients may present with unexplained symptoms that point to common problems as easily as rare or poorly understood problems. They can forget important things and sprinkle in irrelevant details.
But there are rare cases of pure deception. This was the case of a woman who was seen at Massachusetts General Hospital for severe pain and cramping. Female case recordwas published this week in the New England Journal of Medicine, documenting a thorough investigation of her dramatic condition. , led to confusion.
It started when a woman visited another hospital complaining of abdominal pain, cramping movements of her right arm and leg, seizures, confusion, agitation, a rash on her chest, and a dislocated jawbone. She told doctors at the hospital that she had a history of acute intermittent porphyria and that her symptoms were consistent with flare-ups of her previous condition.
Porphyrias are rare diseases caused by genetic mutations that are usually inherited. This mutation affects enzymes involved in converting compounds called porphyrins and porphyrin precursors to heme. Hemoglobin is an iron-containing red protein in the blood that is involved in the transport of oxygen. In people with porphyria, heme precursors accumulate, causing disorders such as abdominal pain, arm and leg pain, paresthesia, weakness, and tachycardia.
The woman was admitted to the first hospital and began receiving treatment. However, she was transferred to General Hospital in Massachusetts due to lack of hemin, the standard treatment for her porphyria.
So she told her doctors a similar story and they started treating her with hemin and other medications including morphine for pain. They noted on her record that she looked older. Her maternal grandmother had the condition and her one of her seven siblings was a mute carrier. She also said that although she was born in New England, she moved to the UK 15 years ago and was only in the area to visit her family.
strange thing
Over the next two days, strange things began to pile up. Her symptoms did not improve even though doctors gave her standard treatment for porphyria, and her PBG and porphyrin levels in her urine (usually elevated in porphyria) ) was normal.
Doctors began to suspect that porphyria was behind the woman’s symptoms. They thought drugs or toxins, such as lead poisoning, were causing some of the symptoms. Withdrawal symptoms from discontinuing morphine prior to her admission were also considered. However, the woman’s symptoms were also not improved by morphine, which ruled out that possibility.
