Dr. Shahar Madjar

As I told you the beginning of Elizabeth’s story in my previous article: at approximately 4:30 in the afternoon, Elizabeth was found lying on the floor next to the copy machine in the mail room. She was unconscious. Minutes later, when EMS arrived, she was confused and unable to communicate. Later, in the ER at a nearby hospital, Elizabeth seemed a bit better. There were moments in which she could mumble quietly in response to simple questions, but in other moments, she sank back into unconsciousness.

Why did Elizabeth fall and lose consciousness? It could have been a neurological event that followed some kind of damage to her brain cells (a stroke, a mini-stroke, seizures, multiple sclerosis, a brain tumor, or an infection of the brain itself or the envelopes that engulf it).

It could have also been a different kind of event–a syncopal event (also known as fainting) caused by a vasovagal response (a sudden drop in heart rate and blood pressure in reaction to a stressful trigger). Other causes for a syncopal event include: heart disease and irregular heart beat that may result in insufficient blood supply to the brain.

When the lab technicians analyzed Elizabeth’s peripheral blood, they found numerous schistocytes. These were fragments of red blood cells–irregular and torn–a smoking gun that calls for prompt investigation and intervention. This result with other incriminating findings led the clinicians to identify a prime suspect–a highly likely unifying diagnosis that could explain the clinical presentation in Elizabeth’s case as well as the findings on her lab report.

The disease is called thrombotic thrombocytopenic purpura, or, in short, TTP. It is a rare and life-threatening disease that is considered a medical emergency. It’s also an auto-immune disease in which the immune system attacks the patient’s own body.

In the specific case of TTP, an auto-immune attack leads, in a cascade of events, to an increase in a substance called Von Willebrand factor (vWF) which is a critical component of hemostasis, or normal blood clotting.

In TTP, the increase in vWF leads to blood clots forming in small vessels throughout the body. Platelets attach and stick to the lining of small blood vessels and to one another. Blood clots rapidly form and, in the process, an increasing number of thrombocytes are consumed. As a result, red blood cells, whose membranes are delicate and fragile, rupture as they “force their way” through the narrower passages within the blocked blood vessels.

A look at a peripheral blood smear in a patient with TTP would therefore reveal a small number of thrombocytes and irregular and torn red blood cells–just as in Elizabeth’s case where miniature blood clots in her brain circulation caused her to collapse in the mail room.

Once they recognized the nature of Elizabeth’s misfortune, the doctors acted swiftly: they embarked on a therapeutic plasma exchange. In other words, they gradually removed Elizabeth’s plasma (the fluid components of the blood) and replaced it with donor plasma. The new, donor plasma, was devoid of the harmful antibodies that led to Elizabeth’s deterioration. It also contained the right combination of enzymes and factors that are essential to a well-balanced function of the blood-clotting mechanism.

After employing therapeutic plasma exchange and other measures, Elizabeth’s condition improved. And she was discharged from the hospital in a stable condition.

Thrombotic thrombocytopenic purpura is a rare disease and the chance that any of us will encounter it is small. What, then, can a layman learn from Elizabeth’s case?

Often, medical sleuths rely on a process of differential diagnosis. They first make a list of possible diagnoses. They then consider each diagnosis, and, by process of elimination, exclude some and focus on others until they narrow down the field to a single, most fitting diagnosis. This process is the equivalent to the work of a detective who is trying to catch a murderer by methodically and meticulously ruling out all of the suspects, but one.

Sometimes, though, the work of a detective, or that of a doctor, becomes miraculously simple. It happens when a piece of evidence, call it a smoking gun, points to one particular criminal, or to a single disease.

Here lies, I believe, a lesson to be learned: when we encounter a problem, we typically rely on our prior experience. Often, we rephrase a problem so it fits a question we had already answered.

Sometimes we force a solution where it wouldn’t fit. The process of solving a problem shouldn’t always be singular. Some problems call for a meticulous, well-designed, stepwise process. In other occasions, a solution may present itself almost serendipitously. All I am saying is, when faced with a difficult question, we should keep an open, flexible mind.

EDITOR’S NOTE: Dr. Shahar Madjar is a urologist at Aspirus and the author of “Is Life Too Long? Essays about Life, Death and Other Trivial Matters.” Contact him at smadjar@yahoo.com.