SMA syndrome: Doctors diagnose a rare digestive disorder and help a mother feel normal again

For three years after she gave birth, Margaret* suffered from gastrointestinal issues. Any time she ate or drank even a small amount she felt nauseated and bloated. She had trouble keeping food down and had less energy, which made it hard to keep up with her children.

"When I went to social gatherings, it was always in the back of my mind, planning out what I could eat and drink, and how much," she said. "My kids were even asking, 'Aren't you hungry?'"

She had learned to live with the discomfort, eating small amounts, spacing out her meals and drinking more liquids. But her aunt suggested she come to the University of Chicago Medicine because of its ranking and reputation as having among the best digestive disorders programs in the nation.

Margaret was eventually referred to Sonia Kupfer, MD, a gastroenterologist who focuses on diagnosing and treating patients with digestive disorders. Kupfer arranged for her to undergo a battery of tests. There was a question if she could have celiac disease, but after a week Kupfer found nothing conclusive.

On the last day of tests, Arunas Gasparaitis, MD, a radiologist who specializes in abdominal imaging, spotted something that Kupfer and her colleagues couldn't quite believe. Margaret had a condition called superior mesenteric artery (SMA) syndrome, where two of the large arteries in the abdominal cavity compress the duodenum, or upper portion of the small intestine.

Normally a pad of fat protects the intestine and provides separation from the arteries. But with SMA syndrome, this fat pad is reduced or missing, essentially allowing the arteries to squeeze the intestine and cause blockage. In many cases, significant weight loss can lead to loss of this fat pad and disease onset. Left untreated, SMA syndrome can cause malnutrition and weight loss, in addition to its effect on quality of life from the pain and discomfort.

Margaret said finding out was a relief. "It was proof that I wasn't making this up, that something really was going on."

SMA syndrome is rare, and the diagnosis is often ambiguous. "I'll have to confess I was somewhat surprised because this is a very rare diagnosis. However, her symptoms were definitely consistent with the diagnosis," Kupfer said.

Next, she met with John Alverdy, MD, vice chairman of surgery, who specializes in a variety of gastrointestinal surgical procedures. He told her that she could continue to modify her diet to try to alleviate the symptoms, or have surgery. He said surgeons are often reluctant to perform an operation on patients with this problem because they don't believe the diagnosis.

"This is not only a difficult diagnosis to make, but when it's made it's often disbelieved because it seems so odd that a person's anatomy would change so drastically with no provocation," he said.

Margaret decided to consult with her primary care physicians again. But when doctors there suggested more tests, she opted to return to UChicago Medicine for the surgery. It was a difficult decision, she said, "But I had been living with it for so long. If there was a possibility to fix it, that's definitely the way I wanted to go."

Alverdy performed the surgery laparoscopically through just a few small incisions. The procedure bypasses the blockage by creating a connection between the duodenum and the jejunum, a lower portion of the small intestine.

Now, Margaret feels like a new person, free of the pain and discomfort she had been suffering for so long. "I remember my first actual meal when I got to go to a restaurant and eat a whole meal," she said. "It was such a nice thing. I can't imagine not having the surgery now."

*This patient's name and certain personal details have been changed at her request.

Matt Wood
Matt Wood

Matt Wood is a senior science writer at UChicago Medicine and the Biological Sciences Division.