The Mystery of Clogged Arteries: A Story of Misdiagnosis

Nearly 800,000 Americans die or become disabled each year due to misdiagnosed or undiagnosed diseases. Joe M. Moore, a marketing and intellectual property consultant, almost became one of them. His story, unique yet educational, sheds light on the importance of early detection and the dangers of overlooking rare conditions.

The Thrill of Staying Fit

Joe Moore has always been dedicated to maintaining his physical health. From playing four sports in high school to walking on as a quarterback at the University of Alabama, Moore’s athletic lifestyle continued into adulthood. By his 20s, he took up running as a way to cope with the stress of his banking career. What began as a stress-relief exercise turned into a passion for racing, with 10Ks being his primary focus.

By the time he entered his 60s, Moore’s body began to show signs of wear and tear. His knees, toes, and hips were no longer up to the task of running, prompting him to switch to an elliptical machine. Despite the change in routine, Moore continued to enjoy the rhythm of his breath, the steady pounding of his heart, and the satisfaction of staying active. But without his knowledge, his health was about to take an unexpected turn.

A Routine Test Reveals an Unexpected Problem

At the age of 65, Moore’s primary care physician suggested a cardiac calcium CT scan as a preventive measure. This test is a noninvasive way to check for calcium deposits in the coronary arteries, which can signal a risk of heart attacks or strokes due to reduced blood flow. Though Moore had no history of heart issues, the test seemed like a good idea for peace of mind and for the sake of his three grown children.

The results, however, were startling. Moore’s calcium score was 2,424—a far cry from the typical score range of 0 to 400. This score suggested a significant amount of plaque buildup in his arteries, despite Moore having no obvious symptoms of coronary artery disease.

The Search for Answers

Upon receiving these results, Moore was referred to a cardiologist for further tests. Despite passing all tests successfully, the doctors remained puzzled by the high levels of plaque in his arteries. After additional testing and another scan, Moore’s calcium score had risen to 2,780, with blockages exceeding 90% in three arteries. The situation seemed dire, and a cardiac catheterization was scheduled.

When Moore woke up from the procedure, his cardiologist offered good news—his arteries were not as severely affected as initially feared. The blockages, while significant, were stable and did not pose an immediate threat. However, the sheer volume of calcified plaque meant that, if left untreated, the deposits could eventually cause a fatal blockage.

The Final Diagnosis: Sitosterolemia

Despite the promising outcome of the procedure, Moore and his doctors still didn’t have an answer to the cause of his plaque buildup. It wasn’t until he visited Dr. Mary Honkanen, an internist in Mobile, that a breakthrough came. After running several tests, Dr. Honkanen discovered that Moore had Sitosterolemia, a rare hereditary condition that causes plant sterols and stanols—fatty substances found in certain foods—to enter the bloodstream and accumulate in the arteries as calcified plaque.

Most people excrete these sterols and stanols through the digestive system, but in Moore’s case, his body absorbed them, leading to the dangerous buildup in his coronary arteries. Sitosterolemia can be inherited from one or both parents. The one-parent version, which Moore likely has, is often asymptomatic and is typically diagnosed only after a major cardiac event.