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Stanford University School of Medicine

On rare conditions & anesthesia: A case study

colorful-1254541_1280Certain details about the patient described have been changed to protect his privacy.

Sometimes deciding what kind of anesthesia to give a patient is straightforward: The patient is generally healthy, the surgery doesn't seem to be too complicated. And sometimes, the decisions around anesthesia seemingly couldn't get any trickier. That was the case when a man with TAR syndrome came in the hospital with a broken arm. I was the resident in regional anesthesia that day.

TAR, or thrombocytopenia with absent radius syndrome, is a rare genetic disorder that affects people in slightly different ways, though every person with TAR syndrome has both a platelet disorder that affects the blood's ability to clot and a disorder of the bones. This patient was born without certain arm bones. He has much smaller-than-average proportions and the syndrome affects his gait, so he walked with a cane.

The gait problem is what brought him into the hospital this time -- he had tripped and fallen.

TAR Syndrome made the patient's broken arm a challenging case for both the surgeons and anesthesiologists for a few reasons: First, TAR syndrome had left him with only one arm that was functional -- and that was the arm he had broken -- so the bone needed to be fixed in a way that would heal quickly. Second, the platelet disorder that accompanies TAR syndrome makes any surgery more dangerous since the patient may bleed more than usual. This also makes regional anesthesia more risky because if the patient bleeds a lot where the needle is placed for the anesthesia, it could potentially cause permanent nerve damage. In this patient's case, previous anesthesiologists had also told him they had a very hard time placing the breathing tube. (Whenever anesthesiologists hear this, we get nervous because the breathing tube is how a patient breathes during surgery with general anesthesia -- not being able to get a breathing tube into a patient means that the patient could die.) These two issues created a conundrum for the anesthesia team: general anesthesia could be potentially fatal if we were unable to place the breathing tube, but regional anesthesia could leave the patient permanently disabled.

Taking all this into consideration, the surgery and anesthesia team  -- which included Ryan Derby, MD, the regional anesthesiologist on the case, and Gunjan Kumar, MD, the regional anesthesia fellow -- decided on regional anesthesia, which means we numbed only the affected limb. We were able to give the patient sedating medication to keep him comfortable -- though awake and breathing completely on his  own -- during the surgery to fix the fracture and place the cast.

This brought us to the next difficult part: In an average case, we place the nerve block in a particular spot, knowing the nerves in that area carry sensation to the area we want to numb. We know where to place the block based on all the previous patients who have been treated by regional anesthesiologists around the world in this same way. But in a patient such as this one, whose anatomy is so different than that of an average person, were his nerves set up the same way?

We had no way of knowing. We did what we normally do when faced with a question that we don't know the answer to -- we looked to the medical literature to see if other doctors have faced similar cases before. No such luck. We couldn't find any published cases that described how the nerves of TAR patients functioned or were laid out.

So we did an ultrasound, and saw that his nerves looked exactly the same as we would expect in anyone else. We went ahead and placed the nerve block in the same spot we would normally place it. And it worked. In fact, it worked so well that his arm was completely cut open and screws were put in, and he did not even need additional pain medication during surgery, aside from the sedative I mentioned.

One interesting thing that came up when we were doing the literature search is that we found a paper on TAR syndrome that included our patient's family. The current patient got to see firsthand how important published case studies on rare conditions can be -- they can really guide doctors who haven't seen a particular type of patient or disease in person. The importance of getting information out there about his condition was one reason he was very eager to have us write about him.

This case reminded me of the reason I chose to specialize in anesthesia: personalized medicine. That is always the goal when we are treating patients, and in anesthesia, each and every patient is treated so uniquely. Three patients may have the same operation, but with completely separate anesthetic techniques and medications based on the medical problems or concerns of each. It is really special to me that we can talk to each patient, their family, their surgeons and other doctors, and come up with what we think is the safest way to proceed with the case.

Anna Harter, MD, is one of three chief residents in the Department of Anesthesiology, Perioperative and Pain Medicine. A Bay Area native, she enjoys spending time outside hiking and playing golf. Christine Junge, a writer for the Department of Anesthesiology, Perioperative and Pain Medicine, contributed to the piece.

Image by GDJ

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