He Was Coughing Up Blood. But His Lungs Looked O.K.

It was the EKG in the emergency room that gave Wallach the last clue he needed to make a diagnosis. An EKG measures the electricity generated by the heart to effectively contract the muscles. A thick, muscular heart will produce an EKG recording that is larger and more exaggerated than normal. The more muscles there are, the greater the signal. But this man’s heart was producing a signal that was smaller than normal. Less current could indicate fewer muscles. Was this man’s heart enlarged by anything other than muscle?

There are diseases that can invade the heart muscles to make them look bigger but weaker. Such a disease could be responsible for all of the man’s symptoms – the thick-looking walls, the overflow into the lungs, the strange EKG, the shortness of breath, even the hemoptysis. “I think you have something serious,” Wallach told the patient. A heart MRI could give you the answer. The patient got this test a few days later. He hadn’t been out of the scanner for more than 20 minutes when his phone rang. It was Wallach. The pictures told the story: The man had a disease called amyloidosis.

Amyloidosis is the end result of many disease processes that ultimately cause zigzag fibers to accumulate in different parts of the body. Cardiac amyloidosis can be the result of a cancer known as multiple myeloma. In this cancer, a type of white blood cell called a plasma cell creates abnormal fibers that can break down and form the sawtooth fibers characteristic of amyloidosis. These jagged fibers can also be age-related. In this version of the disease, carrier proteins known as transthyretins are broken down and take on the abnormal but characteristic irregular folds of amyloidosis. In both diseases, these jagged fibers migrate through the body, penetrate the muscle and collect there – often in the heart muscle.

Blood and urine tests quickly showed that his disease was not due to myeloma. That was a relief; The prognosis for patients with cardiac amyloidosis from multiple myeloma is poor. They often die within a year of being diagnosed. A heart muscle biopsy showed it was age-related amyloidosis. This form of amyloidosis is also progressive, but much more slowly. The patient was referred to a Columbia University cardiovascular surgeon. Sooner or later he would need a heart transplant.

Three years passed before Wallach heard from the patient again. He wrote to tell Wallach that he had received his heart transplant and was fine. He wrote to say thank you, “You saved my life.”

I asked Wallach how he could make this diagnosis if other doctors hadn’t. He called it the Aunt Tilly Sign. “If I were to describe Aunt Tilly to you and send you out into a crowd to find her, you would likely fail. But if you’ve ever seen Aunt Tilly “- he snapped his fingers -” no problem. You would find her in a second. It’s about recognition. “

Lisa Sanders, MD is a contributing writer for the magazine. Her latest book is Diagnosis: Solving the Most Baffling Medical Mysteries. If you have a resolved case with Dr. Sanders, drop her a line at Lisa .Sandersmd @ gmail.com.

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