He Was Coughing Up Blood. But His Lungs Looked O.K.
It was the ECG performed in the emergency department that provided Wallach with the last clue he needed to make his diagnosis. An ECG measures the electricity generated by the heart to effectively contract muscles. A thick, muscular heart will make a larger, more exaggerated ECG tracing than normal. The more muscle is present, the stronger the signal. But this man’s heart generated a signal that was smaller than normal. Less electricity could suggest less muscle. 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. An illness like this could explain all of the man’s symptoms – thick walls, overflow in the lungs, a strange EKG, shortness of breath, even hemoptysis. “I think you might have something serious,” Wallach told the patient. A cardiac MRI might give them the answer. The patient had 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 suffered from a disease known as amyloidosis.
Amyloidosis is the end result of many pathological processes which ultimately cause the accumulation of zigzag shaped fibers in different parts of the body. Cardiac amyloidosis can be the result of a cancer called 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 the result of aging. In this version of the disease, the carrier proteins known as transthyretins break down and take on the irregular irregular folds that are abnormal but characteristic of amyloidosis. In both diseases, these jagged fibers pass through the body, invading and accumulating in muscle – often heart muscle.
Blood and urine tests quickly showed that his illness was not due to myeloma. It was a relief; the prognosis for patients with cardiac amyloidosis due to multiple myeloma is grim. They often die within a year of diagnosis. A heart muscle biopsy proved to be the form of amyloidosis associated with aging. This type of amyloidosis is also progressive but much slower. The patient was referred to a cardiothoracic surgeon at Columbia University. Sooner or later he would need a heart transplant.
Three years passed before Wallach heard from the patient again. He wrote to let Wallach know he had received his heart transplant and is doing well. He wrote to say thank you: “You saved my life.
I asked Wallach how he could make this diagnosis when other doctors had not. He called it Aunt Tilly’s sign. “If I described you as Aunt Tilly and sent you out into a crowd to find her, you would probably fail.” But if you’ve ever seen Aunt Tilly “- he snapped his fingers -” no problem. You would find her in a second. It’s all about recognition.
Lisa Sanders, MD, is a contributing writer for the magazine. His latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries”. If you have a resolved case to share with Dr. Sanders, write to Lisa .Sandersmd @ gmail.com.
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