tomertu/ShutterstockThe patient: Alberto*, a 33-year-old lab technician in Chicago
The symptoms: Swollen legs and shortness of breath
The doctor: Dr. Nir Uriel, director of heart failure, transplant and mechanical circulatory support at the University of Chicago Medicine
Alberto was diagnosed with Crohn’s disease in his early 20s but controlled flare-ups in his digestive tract with a restricted diet and drug therapy. In May 2014, two years after he’d started a regimen of methotrexate, an immune-system suppressor that reduces inflammation, he noticed that his legs looked swollen. He also felt fatigued and started losing weight. The doctor he consulted diagnosed him with cirrhosis—the medication he’d used to treat his condition had caused irrevocable scarring to his liver. These everyday habits make Crohn’s disease worse.
Alberto was prescribed a different anti-inflammatory, which should have resolved his symptoms. But instead, his legs and hands ballooned, and his skin appeared puffy and stretched. He had edema: swelling caused by excess fluid in the body’s tissues. Within seven months of his cirrhosis diagnosis, Alberto was having trouble walking and was short of breath. His doctor sent him for an echocardiogram, concerned that the latter symptom suggested a heart-related problem. Don’t ignore these silent signs of heart trouble.
The test revealed that Alberto had reduced ejection fraction—a measurement of the amount of blood pumped out of the heart each time it contracts. He was diagnosed with acute decompensated heart failure (a sudden worsening of symptoms), but cardiologists couldn’t figure out why. He had no family history of cardiomyopathy (a condition distinguished by abnormalities in the heart muscle); there were no signs of inflammation; and an angiogram showed only healthy-looking arteries.
By early 2015, Alberto was wholly debilitated and terribly depressed. As they struggled to identify the source of his heart trouble, cardiologists treated him with a host of medications to treat cardiac failure, but his blood pressure dropped so low that his body couldn’t tolerate the treatment. It was then that Alberto was referred to Dr. Nir Uriel.
“The patient’s parents had to wheel him into the clinic because he didn’t have the strength to make his way from the parking garage,” Uriel says. “He had end-stage heart failure.”
Uriel began evaluating Alberto for a combined heart and liver transplant, while trying to determine the cause of his cardiac issues. “Because a lot of tests had already been done, we tried to think outside the box, to find something that hadn’t been done.”
Uriel wondered whether the Crohn’s, which made it difficult for the patient’s body to absorb nutrients, might be at fault. He analyzed Alberto’s blood for minerals crucial to heart health and found a selenium deficiency, something no one at the hospital had encountered before.
“Selenium is responsible for the electrical activity between the cells in the heart. When a patient is deficient, it can cause cardiomyopathy,” Uriel says, adding that it had taken a few months to identify the source of Alberto’s heart troubles because he was in such bad shape. “We really thought, ‘This heart is done.’” Learn about the most miraculous medical recoveries of 2017.
While Uriel acknowledges that this was a rare twist in a cardiac-failure diagnosis, he says the case shows how important it is to think about what might be missing in the blood, especially in a patient with nutrient-absorption issues. After leaving the hospital, Alberto changed medications and follows a specialized diet that includes selenium supplements.
Now, two years after his ordeal began, he’s back at work and playing golf again—with a healthy heart. Learn the things cardiologists do every day to keep their hearts healthy.
*Name changed to protect patient privacy