Medical Mysteries: Why was this patient yellow?
A 39-year-old man with severe abdominal pain arrived at a medical clinic, where the receptionist immediately commented that he looked “quite yellow”.
Seeing the man was also in pain, the receptionist offered to call an ambulance to take him to the nearest emergency department, but he insisted on driving himself to the hospital.
Arriving at the ED, the man was sweating and in agony. He could barely stand. He had experienced this excruciating pain before, sporadically. Sometimes, he’d have eaten something that didn’t agree with him, leading to bloating, tightness, and stomach aches. Occasionally, burping helped, but when the pressure became too much, inducing vomiting was the only means of relief.
Sometimes the waves of pain lasted for a day or two, making eating impossible. Even drinking water was a push.
Safely at the ED, the man underwent a series of tests, including a CT scan and ultrasound.
A diagnosis of gallstones followed. Doctors informed him that one of the stones had blocked the bile duct, causing the pain. They believed the stone would likely pass on its own, but surgery was an option if needed.
In any case, the man was told his gallbladder would be removed. He asked the many doctors he saw that night if this explained why he was so yellow, but an unsatisfying “maybe” was the only answer. His yellowing skin remained a mystery.
By the next morning, the man’s pain had lessened, suggesting that the troublesome gallstone might have moved. Still, his peculiar pallor persisted.
A physician with a group of training doctors discussed jaundice, which causes the skin and eyes to turn yellow due to a buildup of bilirubin, a product of red blood cell breakdown. It was puzzling though because the jaundice was everywhere. Well beyond what would be expected with a blocked gallbladder.
As the doctors deliberated, the man called out: “Do you think I’m hemolyzing?”
Silence fell as every face turned toward him. Hemolyzing, they knew, was the term used to describe the destruction of red blood cells. But this wasn’t a word that was usually used by patients.
By the next morning, the man’s pain had lessened, suggesting that the troublesome gallstone might have moved. Still, his peculiar pallor persisted...
The man got out of bed and ambled to the doorway. He could see the unasked question in their eyes. He went to medical school, he told the group, though he never went into practice.
Blood tests revealed the man had anaemia and unusually small red blood cells, an uncommon combination. They deemed this to be due to a severe iron deficiency or irregular red blood cell shapes. Abnormal shapes often lead to higher destruction rates and jaundice, especially when the elimination of bilirubin is hindered.
Curiously, even with the man’s medical training he hadn’t noticed his yellowed skin and eyes. During the pandemic, he had moved in with his parents and was working from home. He had been quite isolated. His parents, who were elderly, hadn’t said a word. And he (obviously) didn’t look in the mirror much!
In the years beforehand, the whites of his eyes sometimes had a yellow tint to them. Based on that, he had diagnosed himself with Gilbert’s syndrome, a benign condition that is caused by not having enough of the enzymes that break down bilirubin. People with Gilbert’s may have a yellowish cast to their eyes, especially during times of physical or emotional stress, when red blood cells are broken down more rapidly. But the man never connected the yellow he sometimes saw in the mirror to the bouts of abdominal pains. And he had never been THIS yellow.
Consulting with haematology specialists, the doctors ruled out common genetic blood disorders like sickle-cell disease and G6PD deficiency.
It wasn’t until a few weeks later that they discovered a rare cause: hereditary spherocytosis, which was making the man’s red blood cells spherical and more susceptible to damage during circulation. Surprisingly, the man knew of no-one in his large family who had been diagnosed with the rare condition.
The haematologist suggested he might be the first to inherit the mutation.
Minus his gallbladder, the man found comfort in finally having an explanation for his recurring abdominal pain and was relieved to know he wouldn’t endure such painful episodes again.
*Adapted from an article in the New York Times’ ‘Diagnosis’ column