Wilson Disease

A 17 June 2007 article "Full-Body Failure" in the New York Times Magazine's "Diagnosis" feature describes a 22 year old woman who "needed an answer, or she would die":

She looked tired and sick and very, very yellow — highlighter yellow.

She was febrile, her skin hot and dry. Her lips were parched and cracked. Her abdomen was distended but soft, and he could feel the firm edge of an enlarged liver a couple of inches below her rib cage.

Her white blood count was very high, suggesting that she might have an infection. And she had barely half the amount of blood she should have. Walerstein saw that she had already received several transfusions, and she was still profoundly anemic — something in her system was destroying the blood as fast as it could be pumped in. Her kidneys weren’t working. Her blood wasn’t clotting, and her urine and stool were stained deep red with uncontrollable bleeding. She was dying, and no one knew what was killing her.

These are the most difficult cases — patients who have so many things going wrong that it’s nearly impossible for a doctor to process them all at the same time.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. Wilson disease is the among the likely diagnoses.

The doctor in charge was “unhappy with the way the case was going” and “started talking with all the smart people I could find.”, and succeeded in finding a person who could put the findings together:

The fact that the patient’s blood was not clotting made Walerstein think that her liver was no longer working — the liver makes most of the protein that causes blood to coagulate. So she had liver failure. And her red blood cells were being destroyed. That combination stirred something in his memory.

Walerstein recalled having heard about a disease that featured both liver failure and anemia in some lecture years ago. He hurried to the library to see if he was remembering this pearl accurately. Yes! Liver failure and this unusual kind of anemia were caused by an inherited condition known as Wilson’s disease.

Walerstein had to confirm the diagnosis. Late on a Friday night it would be difficult to measure the amount of copper in her blood — his hospital laboratory didn’t even do that test. But there was another way to diagnose this disease. Patients will often accumulate copper in their eyes. Sometimes it can be seen with the naked eye, a golden brown ring at the very outermost edge of the iris. He hurried back to the I.C.U. He couldn’t see any evidence of these rings, but maybe an ophthalmologist could. “It’s not often that you call the ophthalmologist at 8 p.m. on a Friday” to do an emergency examination, Walerstein told me. “I’m sure he thought I was nuts — until he did the exam.” As soon as Walerstein had the results, he dashed into the patient’s room to tell her what they’d found.

In the list of "useful findings" in SimulConsult Diagnostic Decision Support, looking at the iris was the second in the list of low-cost recommendations (the copper-related tests are prominent in higher cost recommendations).

But what would have happened if Walerstein had been out of town that day or hadn’t come back? Would this condition have been diagnosed? Would the patient have survived?

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.