On Thursday, we challenged Well readers to take on the case of a 19-year-old man who suddenly collapsed at work after months of weakness and fatigue dotted with episodes of nausea and vomiting. More than 500 of you wrote in with suggested diagnoses. And more than 60 of you nailed it. The cause of this man’s collapse, weakness, nausea and vomiting was…
Addisonian crisis because of Addison’s disease
The first reader to write in with the correct diagnosis was Jan Wolitzky, a physician assistant in Madison, N.J. He says that he had a chance to look at the case when his first patient of the day didn’t come in. He recognized this classic presentation of Addison’s disease right away and, after double-checking in a medical reference, sent in his answer just 34 minutes after the case was posted. Even more remarkable, Mr. Wolitzky is the second two-time winner of the Think Like a Doctor contest. Well done, sir!
The Diagnosis
Addison’s disease, named after Dr. Thomas Addison, the 19th-century physician who first described the disorder, occurs when the adrenal glands stop producing the fight-or-flight hormones, particularly cortisol and adrenaline and a less well known but equally important hormone called aldosterone that helps the body manage salt. In Addison’s, the immune system mistakenly attacks the adrenal glands as if they were foreign invaders. Why this happens is not well understood, but without these glands and the essential hormones they make, the body cannot respond to biological stress.
The symptoms of Addison’s are vague. That’s one reason it’s so hard to diagnosis. Patients complain of weakness and fatigue. They often crave salt. And when confronted with any stress — an infection or an injury — patients with Addison’s may go into adrenal crisis, characterized by nausea and vomiting, low blood pressure and, sometimes, physical collapse. Their blood pressure may drop so low that oxygen-carrying blood cannot reach the extremities, causing skin to turn blue; if blood fails to reach even more essential organs, it can lead to death.
If Addison’s is so hard to diagnose, you might ask why so many of my readers got it right? I like to think that suggests how extraordinarily smart the readers of my column and of Well are. I’m certain that’s part of it, but there is an important aspect of diagnosis at play here as well. In medicine, context is everything. In the office, amid the mundanities of life, you never think you’ll find a zebra. But in my column, you never think you’ll find a horse. Readers of these pages are primed to look for the odd diseases — and clearly, they frequently find them.
How the Diagnosis Was Made
When Dr. Mary K. Moore, the emergency room physician who saw the patient, heard that he had been to the E.R. earlier with the same kind of symptoms, she reviewed the notes from his previous visits. She wasn’t certain she would be able to figure it out. He’d been sick for so long and his symptoms were so vague, it really wasn’t the kind of diagnosis that emergency department doctors usually made. Still, she would try.
In his records, a pattern emerged: nausea, vomiting and weakness were prominent symptoms. His labs from his visit that day revealed very low sodium, as it had in previous visits.
When Dr. Moore asked about the low sodium, the mother practically exploded with frustration. She’d been told before that he had low sodium, but she couldn’t figure out how that was possible. At the dinner table, her son always grabbed the saltshaker, and it was at his plate, often in his hands, throughout the meal. His food would be white with salt. And it wasn’t just at meals, either. In the morning, when she came to get him up for the day, his floor was often littered with empty salt packets. He seemed to be particularly partial to something called pickle salt, a mix of salt and pickling spices. She kept telling him he shouldn’t eat that much salt. He said he craved it. So she asked the doctor how his sodium could possibly be low?
That piece of history made everything click. Weakness, low levels of sodium in the blood despite eating a high-sodium diet, nausea and vomiting. It added up to one thing: Adrenal crisis.
But why? What had caused this? This kind of physiological crisis was most commonly seen in patients who chronically took steroid medications. Prednisone and other steroid drugs cause the adrenals to stop doing their job. If the patient stops taking the drug, he can go into an adrenal crisis from the sudden loss of these key hormones. That certainly wasn’t the case with this patient. Something had happened to his adrenal glands.
Advanced cancer can attack the adrenals; H.I.V. and tuberculosis can as well. A brain tumor in the pituitary might indirectly cause the adrenals to stop working. But none of those diagnoses seemed to fit. Dr. Moore thought that this was probably Addison’s disease.
However, why his adrenals weren’t working was not Dr. Moore’s immediate concern. More important was how to get this young man to an expert to complete his medical work-up and get him treated. The hospital in Tahlequah, Okla., didn’t have one.
She called an endocrinologist she knew in Tulsa. He suggested the patient come in the next week. Though she made the appointment for him, Dr. Moore wasn’t sure they could wait that long. She decided to start his treatment right then, sending him to St. John’s Medical Center in Tulsa, where he could be watched for a day or two to make certain he was stable.
One Answer to Many Questions
At the medical Center, Dr. Rebecca Crow, a resident, took on the task of explaining the disease to the patient and his worried family. Turns out that just about everything wrong with him could be linked to the disease, she told them.
Addison’s can cause slow growth and delayed sexual maturity. It can cause the thyroid to misbehave as well. Certainly it caused the salt craving that distressed his parents so much. But that salt was essential. Without it, he may have died without ever knowing what was wrong.
One of the earliest signs of Addison’s is tanned-appearing skin. The body’s effort to make the adrenals keep working stimulates the growth of the cells that contain melanin, which is released when skin is exposed to sunlight. The mother was amazed. No one in the family ever tanned except for her son. Was that why? Probably, Dr. Crow said.
The patient and his parents were relieved and worried by the diagnosis. Would he be all right? Even with this problem? Certainly, Dr. Crow responded. There are some very famous people who had Addison’s. President John F. Kennedy had Addison’s. He took his medicines and did so well that no one, other than family and physician, ever suspected he had a chronic disease.
How the Patient Did
The patient went home after a couple of days. He said he was feeling a little better, but his parents knew he felt a lot better than that. That first afternoon home, he called an old friend and went hunting. He came back late that night with plenty to show for his hours in the woods.
Since starting on his “miracle pills,” as he calls them, nearly two years ago, the young man has gained more than 25 pounds — all in muscle, he assures me. He’s working hard for his father and has joined the volunteer fire department in his small Oklahoma town.
Dr. Moore hasn’t seen the patient since she diagnosed him. It was hard for her to believe this zebra wandered into her emergency room that day, but she acknowledged that her diagnosis probably saved his life.