LEXINGTON, Ky. (Oct. 26, 2021) — When it comes to medical diagnoses, retired nurse Sue Routin, 65, says she’s just about seen it all.
“Thanks to my experience in health care, I am generally well-versed in the wide world of ailments,” said Routin, a Stanford, Kentucky, resident who worked in nursing for 23 years. Day in and day out, it was her job to recognize a problem, evaluate symptoms and help determine treatment.
This experience has helped her to navigate her own health challenges. In 2013 she was diagnosed with supraventricular tachycardia (SVT), specifically atrial fibrillation (AFib). During atrial fibrillation, patients experience an abnormal rate or rhythm of the heartbeat in which the heart beats too quickly, too slowly or irregularly.
Routin saw AFib in her patients time and time again — it is a common condition that affects at least 2.7 million Americans. Knowing the potential severity of any heart condition, she was quick to initiate her own care with UK HealthCare cardiologists after recognizing the symptoms.
Routin has had three ablations to try and correct her arrhythmia, but her condition only continues to decline — she even ended up in her local emergency department, nearly coding, she recalls. But despite Routin’s deep breadth of medical knowledge, she was stumped when new, worsening symptoms appeared a little over one year ago.
'All of it was working together and against me'
Routin knows better than to skip her regular check-ups with the cardiology team at the UK HealthCare Gill Heart & Vascular Institute. And it’s a good thing — because her last check-up may very well have given her a few years of life back.
“My feet and legs started swelling really bad,” she said. “I was holding fluid in my thighs, and I was short of breath and feeling so, so tired. I also lost my appetite. Combined with my already existing conditions, all of it was working together and against me.”
Everyday tasks became debilitating for Routin. Chores like sweeping the floors or doing laundry were painful and exhausting. Running errands and weekly trips to the grocery store became impossible without help.
In addition to Routin’s existing heart disease, she was confident she was now experiencing congestive heart failure, which can present with shortness of breath, fatigue, swollen ankles or legs.
Her check-up appointment happened to fall during the start of the COVID-19 pandemic. She remembers Rick McClure, M.D., a cardiologist and interim chair of the UK Department of Internal Medicine, and his team of nurses expressing concern — saying they had never seen her like this.
“He set me up immediately with the heart failure team and they ran the gamut of blood work,” Routin said.
Gaurang Vaidya, M.D., a UK HealthCare cardiologist specializing in advanced heart failure and heart transplantation, took on Routin’s case. Despite her confidence in a congestive heart failure diagnosis, Routin’s blood work and advanced testing revealed a different diagnosis — something she had never heard of before — cardiac amyloidosis.
A rare diagnosis
Cardiac amyloidosis is considered rare. It is estimated to affect less than 200,000 people in the United States. With improvement in diagnostic methods, more heart failure patients are now being realized to have an underlying cardiac amyloidosis.
Cardiac amyloidosis occurs when an abnormal protein — called amyloid — builds up in your heart tissue. This buildup makes it hard for your heart to work the way it should. The heart muscles become rigid, which prevents the muscles from relaxing between beats. This prevents blood from getting into your heart.
There are two main types of cardiac amyloidosis: transthyretin (ATTR) amyloidosis or light chain (AL) amyloidosis. ATTR amyloidosis results from mutated deposits of transthyretin, a protein made by the liver. The two subtypes of ATTR are wild-type amyloidosis, which generally affects people in their 60s or older; and hereditary amyloidosis, which runs in families and typically affects people in their 40s or older. AL amyloidosis is associated with blood cancers, like multiple myeloma. It is not a type of cancer but is treated with chemotherapy.
Routin has ATTR wild-type amyloidosis, and the disease is not curable, but treatable. Besides medication, a heart transplant is the most effective solution; however, Routin is not a candidate for transplant because of her age and medical history. Newly approved medicines can potentially prolong the survival of patients with ATTR amyloidosis. The medicine Vaidya prescribes for her helps prolong her life and maintain a satisfactory quality of life. Those impossible trips to the grocery store are now more manageable with a little help from her husband, and she is able to keep up with housework by herself, like sweeping and doing laundry.
“I am grateful to Dr. Vaidya and his team for their passion, care and understanding,” Routin said. “Even as a former nurse, I had never heard of amyloidosis before. Had I known, I would have sought help sooner and I probably would have a much better prognosis.”
Without her amyloidosis diagnosis and prompt treatment by her UK HealthCare team, Routin would likely have had less than three years to live.
UK HealthCare’s cardiac amyloidosis clinic is the only one of its kind in Kentucky.
“Because so much surrounding cardiac amyloidosis is unknown, very few hospitals in the country have the capability to treat it,” Vaidya said. “However, it is essential that this condition be diagnosed and promptly treated.”
Vaidya says research is still ongoing and many patients who were previously diagnosed with heart failure are now being realized to have underlying cardiac amyloidosis as the cause of their heart failure.
“It is important to make the distinction as the treatment of cardiac amyloidosis is completely different and some of the regular heart failure medications are actually harmful in amyloidosis patients,” he said.
Patients who seek treatment through the UK HealthCare cardiac amyloidosis clinic are cared for by a team of doctors who specialize in treating cardiac amyloidosis as well as kidney, liver and other organ problems that can come with it. Nurse coordinators will support and guide patients through their care. The clinic can also connect patients with clinical trials that test new therapies and study how the disease progresses. Additionally, the clinic has nuclear pyrophosphate scan technology, which Vaidya says is highly accurate to diagnose cardiac amyloidosis.
“We have all of these resources under one roof that can truly make a difference in disease progression and a patient’s prognosis, and we are one of very few centers across the country that have this set up,” Vaidya said. “Another benefit that is unique to UK is the collaborative approach our team takes with other specialties to treat the full spectrum of symptoms, including hematology, nephrology, pulmonology and neurology.”
Routin encourages anyone who has troubling symptoms to seek help.
“You have to put your faith and trust in God and your doctors. Do everything they tell you and make sure you do not overlook anything,” she said. “If I knew then what I know now, I would have sought help much earlier.”
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