The obvious place to look isn’t always the right place.
“I coughed blood,” the man confessed. His wife was 59 years old when they drove to New York from their Connecticut home. It started the day before, he admitted when she asked. His wife, a nurse, was used to her husband’s casualness after 40 years of marriage, even if it always brought a certain verve with it. Take the exit, she ordered. They were near an emergency room in Brewster, New York. He had to get that sorted out.
It was quiet when the couple got to the emergency room so their husband was seen immediately. He’s had a runny nose and cough for the past two days, and a couple of times he’d seen blood stains in what he’d coughed up, he told the nurse. His chest hurt a little, and he took a deep breath, but otherwise felt great. However, his vital signs told a different story. He did not have a fever, but his oxygen level was 91%. Even in the worst of cold, its oxygen content should have been 98 to 100 percent. Was he short of breath? Not particularly, he said. Maybe when he got out of the car, but sit here now? Not at all. He needed a CT scan of his chest, the couple were told, so he was transferred to the emergency room at Northern Westchester Hospital in Mount Kisco, NY.
The CT scan showed no clots in the pulmonary arteries. so he did not have the dreaded pulmonary embolism that could have caused his oxygen deficiency and hemoptysis (coughing up blood) without further symptoms. Still, the pictures were anything but normal. There were patches of light fog in areas that should be dark in both lungs. Maybe pneumonia? People generally feel sicker than this man when they have pneumonia, but how could they explain the low oxygen levels? He was treated with antibiotics and brought in for observation.
Port crisis
Dr. Tara Shapiro was the doctor entrusted to her that night. She wasn’t sure if the problem was with the man’s lungs. The CT scan also showed a thicker and more muscular heart than it should be. This type of hypertrophy, as it’s called, is common in high blood pressure patients when the heart has to work hard to get its payload through the bloodstream. But this man did not have high blood pressure.
The patient had a full cardiac exam a few months earlier than he judged normal. But Shapiro still feared that it was his heart, not his lungs, that was failing him. His oxygen levels improved dramatically within a few hours in the hospital. It was far too early for the antibiotics to do this. It was more likely because of the strong diuretic he had already been given if the disease was a fluid rather than an infection in his lungs. A strong heart doesn’t pump as well as a normal heart and sometimes can’t keep up. In this case, the fluid can be pumped back – directly into the lungs.
Shapiro contacted a cardiologist friend, Dr. Ronald Wallach. He was one of the most competent doctors she knew. Wallach saw the patient the next day, shortly before his discharge. The patient’s wife was reassured by the white hair and calm authority of the doctor. Your tough man would definitely listen to this guy.
After hearing the man’s story, Wallach asked him if he had ever been out of breath. Well, it could have been like that for a while, the man admitted. How long? The von der Mann’s wife gave him a sharp look. For several months, at least since the summer, he said. At this point he was having serious breathing difficulties.
He had been out on his motorboat for a weekend with his wife and grown daughter. The women sat on tubes in the bay behind New Rochelle Harbor, enjoying the sun and calm water. Then suddenly: “Throw me the rope,” he heard his wife scream. He looked up to see the two women pulling away quickly from his boat, caught in the tide. He wrapped one end of a rope around his body and threw the other end at his wife. It took a few tries, but she made it. He struggled to get his wife and daughter back to the side of the boat. When they climbed aside, it was his wife who noticed his breathing. His face was red and glistening with sweat, and he was panting. Are you alright She asked. He nodded and raised a doigt want to tell me, give me a minute. It took over a minute – much longer. It scared him. He was a tough guy, but maybe that scared him too, because even though he refused to go to the emergency room at the time, he went to see his family doctor later that week
This doctor immediately sent him to a pulmonologist and then a cardiologist. The pulmonologist diagnosed him with asthma. It’s unusual at this age, said the doctor, but it does happen. He gave the patient an inhaler that he could use if he felt short of breath. It didn’t help. The cardiologist ordered a stress test. The patient lasted only a few minutes before becoming too short of breath to continue. His EKG was normal throughout the test, so his cardiologist attributed it to his asthma. He was an elevator mechanic and that meant he had to climb stairs most of the time – sometimes lots of stairs – to fix broken machines. The man has Rema noticed that the stairs had become a little heavier for him over the past year, but he asked Wallach with a shrug and a smile, what can you do?
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Zigzag fibers
It was the EKG done in the emergency room, Wallach’s last clue he needed to make his diagnosis. An EKG measures the electricity generated by the heart to effectively contract the muscles. A thick, muscular heart results in a larger, more exaggerated EKG recording than normal. The more muscles there are, the stronger 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 affect the muscles of the heart that can make them bigger but weaker. Dying malaso could explain all of the man’s symptoms – thick walls, overflow in the lungs, strange EKG, shortness of breath, even hemoptysis. “I think you have something serious,” Wall said to the patient. A heart MRI could give you the answer. The patient had this test a few days later. He hadn’t left 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 that lead to the accumulation of fibers in a zigzag shape 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 break down and that can form sawtooth fibers, characteristics of amyloidosis. These jagged fibers can also be the result of aging. In this version of the disease, the carrier proteins known as transthyretins are broken down and take on the jagged, ragged wrinkles that are abnormal but characteristic of amyloidosis. In both diseases, these jagged fibers migrate through the body, penetrate muscles and accumulate there – often in the heart muscle.
Blood and urine tests quickly showed that her disease was not due to myeloma. It was a relief; The prognosis for patients with cardiac amyloidosis due to multiple myeloma is bleak. They often die within a year of being diagnosed. A heart muscle biopsy was shown to be the aging-related form of amyloidosis. This type of amyloidosis is also progressive, but much slower. The patient was referred to a Columbia University cardiovascular surgeon. Sooner or later a heart transplant would be needed
It was three years before Wallach heard from the patient again. He wrote to Wallach that he had received his heart transplant and was fine. He wrote to thank me: “You saved my life.”
I asked Wallach how he could make this diagnosis if other doctors hadn’t. He called it Aunt Tilly’s mark. “If I describe asking you about Aunt Tilly and sending you into a crowd to find her, you will likely fail.” But if you’ve seen Aunt Tilly before “- he snapped his fingers -” no problem. You would find her in a second. It’s about recognition. “
Lisa Sanders, MD, is a contributor for the magazine. Her latest book is Diagnosis: Solving the Most Baffling Medical Mysteries. “When you’ve solved a case to share with Dr. Sanders, write to Lisa [email protected]
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