Kavita Sharma, Director of Heart Failure and Cardiac Transplantation, presents a patient case on amyloidosis. She provides an explanation of amyloidosis along with new treatment and therapy options available at Johns Hopkins. She discusses the patient's journey and how the severity of his case led to a combined heart and kidney transplant.
In the fall of 2020, I received a phone call from a colleague about a patient who is seeking to establish care for the treatment of cardiac amyloidosis. I met the patient in November 2020 and at that time it was evident that his disease was quite progressive. His symptoms began in 2019 with the onset of bilateral lower extremity Edema, this progress to shortness of breath with exertion and significant exercise intolerance. In an individual who is used to exercising daily and in fact was a professional athlete. Most of his adult life, An Echocardiogram was obtained, which showed that his heart function was down 30-35%, with features suggestive of heart muscle infiltration. Given that his father had a history of amyloidosis. He was referred for genetic testing and indeed was diagnosed with a genetic mutation for hereditary amyloidosis. Over the following months he underwent a series of cardiac testing, including a right heart catheterization and heart biopsy that confirmed the diagnosis of cardiac amyloidosis related to his hereditary condition. Over this period of time, he continued to struggle with significant fluid build up in the legs, describing feeling tired and short of breath most of the day while he was still maintaining some exercise daily. He had cut back in the intensity of exercise significantly. He was finding himself sleeping nearly upright at night with episodes of paroxysmal nocturnal dystonia and severe orthodontia. We quickly escalated his medication regimen, including his diuretic therapy, medications that are commonly used to help get rid of excessive fluid and initiated him onto families. A new FDA approved medication for the treatment of amyloidosis. Amyloidosis is a relatively rare but likely under recognized disease that occurs when an abnormal protein called amyloid builds up in the body's organs and interferes with their normal function. This protein can come from the liver called Trans Theory, written amyloidosis or from the bone marrow called A. L. Amyloidosis. Understanding the type of amyloid is very important as the treatments differ depending on the type of amyloid within the T. T. R. Form of amyloidosis or the type of amyloid that comes from the liver. The hereditary form can present at an earlier age and progress more rapidly. The heart is often affected, causing complications such as electrical conduction disease as well as congestive heart failure. Other organs can be infected, including the peripheral nerves causing neuropathy as well as the kidneys and digestive system. Up until the last five years or so, we really did not have much in the way of dedicated treatments for T. Tr amyloidosis. However, we now have new therapies to treat this condition as well as many therapies to treat a L amyloidosis. The patient's condition was quite advanced By the time I met him we performed a right heart catheterization at Hopkins to understand how weak his heart function was and this confirmed not only significant fluid build up in the body as well as a very weak heart. He was already showing signs of kidney damage related to his heart failure and his neuropathy was quite severe. We began with medical management, as we almost always do in heart failure but quickly understood his disease was quite advanced and he was not able to keep excessive fluid off and from accumulating at home. His exercise capacity and overall quality of life were continuing to decline. In late February 2021, we admitted our patient to the Johns Hopkins inpatient heart failure service for progressive heart failure symptoms. At home. He was initiated on ivy diaries is to help remove excessive fluid and HIV medications to support his heart in the form of tropes. Given his progressive condition, we began an evaluation for heart transplantation, a rare but sometimes necessary treatment for advanced heart failure including cardiac amyloidosis in this particular case because of his concomitant kidney disease that was progressing and not improving with our therapies, we evaluated him for combined heart and kidney transplantation. Our patient was listed for heart and kidney transplant. On March five, while waiting. His clinical status unfortunately declined and he necessitated being placed on ECMO support, essentially complete cardiopulmonary support. He was placed at the highest transplant listing status for his clinical condition and on May 5th 2021 received his heart and kidney transplant at johns Hopkins. This was a tremendous joint team effort between our heart failure cardiologist. Dr ahmet Kilic from cardiac surgery. Dr Benjamin Phyllis saw from the abdominal transplant team and our post surgical ICU teams. Our patient did wonderfully through his surgery. He currently sees us and follow up routinely and is maintained on immune suppression therapies to protect his heart and kidney organs from rejection, and has already begun getting back to enjoying life with his family, particularly his grandchildren and getting back to his activities that he enjoys.
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