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If you don't know where you're going, any road will take you there

Written by Dr. Shmuel Prints and Yana Prints
Delay in the diagnostic process of rare diseases- lack of knowledge or leaking method?

The presentation of solved cases as a teaching tool is structurally the same but principally different from presenting unsolved cases. Why?

The reason for this is best described in the dialogue between Alice, who is lost in Wonderland, and the Cheshire cat:

-Alice: “Would you tell me, please, which way I ought to walk from here?”

-Cat: “That depends a good deal on where you want to get to.”

-Alice: “I don’t much care where.”

-Cat: “Then it doesn’t matter which way you walk.”

In a case presentation used for teaching medicine, the physician who knows the final diagnosis emphasizes important details and skips those that didn't contribute to the diagnostic process. In contrast, a doctor presenting a patient with a mysterious case may present many unnecessary and confusing details about their medical status. The unique findings that are crucial to solving the medical mystery are either missing or drowned out by a pool of irrelevant details.

I still remember a patient I had, in her 70’s, with poor controlled DM type II. She suffered from periodic diarrhea, that I explained as a Metformin side effect. Stopping the use of this medicine didn’t help, so I turned to a diabetic specialist who concluded that a diabetic neuropathy with intestinal involvement is the reason for this symptom. Loperamide was prescribed and it generally controlled the diarrhea.

At once, a non-healing necrotic ulcer appeared on her calf, and kept growing despite different local treatments. She was hospitalized due to a dermatological wart for more intensive care. At this time, her diarrhea returned, and the dermatologist invited a gastroenterologist for consultation. By pure chance, he happened to be a classmate of mine who just recently began his fellowship in internal medicine.

Reading her medical file, he easily recognized three signs of glucagonoma: necrolytic erythema, diabetes and recurrent diarrhea. Finally, this diagnosis was confirmed by a high level of glucagon in blood. The ulcer was healed and the diarrhea disappeared soon after treatment by Somatostatin analogue.

Several experienced physicians treated this woman and I was one of them. We knew a lot about her, including the progression of the symptoms she developed, the list of medications she received, and results of various tests. But none of us could extract the three cornerstone details from the abundance of data that would lead to the correct diagnosis. Just like Alice needed the guidance of the Cheshire cat, our guide was that gastroenterologist who was experienced with treating glucagonoma.

Online crowdsourcing gives doctors worldwide an opportunity to get advice from a crowd of talented peers. It does not limit them to space nor chance. It allows physicians to find colleagues familiar with the disease who, if given the correct information, will help end the diagnostic odyssey right then and there.

The importance of properly presenting an undiagnosed medical case grows accordingly to the understanding that online crowdsourcing is the only way to diagnose low-prevalent diseases quickly and accurately. But what is the proper way to present an undiagnosed patient in a way that allows to quickly diagnose them?

NDC Medicine is developing a unique approach to presenting difficult-to-solve cases. Initially, It allows the doctor to give an open-format presentation of the patient. Then, a closely moderated process begins where a moderator guides the doctor on how to complete the presentation using a problem-oriented format suitable for their case.

If you are still asking yourself 'Where to start?', look into my article about my top 4 guidelines to present a medical mystery online in the next blog.

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