Long Delays in Amyloidosis Dx, Even With Established Cardiac Care

Patrice Wendling

February 20, 2020

WASHINGTON — Many patients with transthyretin cardiac amyloidosis establish care with cardiology for months, and even years, prior to their amyloidosis diagnosis, a new study shows.

Researchers identified 70 patients seen at The Ohio State University in Columbus with a transthyretin amyloidosis (ATTR) diagnosis confirmed by cardiac biopsy or technetium pyrophosphate scan, of which 36 had wild-type ATTR and 34 had hereditary ATTR.

Nearly half (47.2%) of patients with wild-type ATTR had established cardiac care more than 4 years prior to their amyloid diagnosis.

Their mean age was 75.5 years, 91.7% were white, and the average time to diagnosis was 8.6 years (range 4-20 years). Chief complaints at the initial cardiology consultation were coronary artery disease (47.1%), arrhythmia (29.4%), and dyspnea (17.6%).

The remainder of those with wild-type ATTR were seen in less than 3 years (average, 11.3 months) with chief initial complaints of arrhythmia (36.8%), dyspnea (31.6%), and heart failure (21.1%).

"This says that these patients are already in our cardiology clinics, and when they develop new dyspnea or heart failure or they're getting cardiac hypertrophy on an echo or new complaints, it's worth revisiting to see if they've developed cardiac amyloidosis," Courtney Campbell, MD, PhD, a cardiology fellow at The Ohio State University and lead author of the study, told theheart.org | Medscape Cardiology.

Cardiac ATTR is an underrecognized and relatively rare disease that is caused by deposition of amyloid fibrils in the myocardium. Diagnosis is often delayed because of a lack of disease awareness and heterogeneity of symptoms at presentation, according to recently published expert consensus recommendations for the suspicion and diagnosis of cardiac ATTR.

Early recognition is critical for patients as the degree of cardiac involvement carries worse prognosis. Treatment options are evolving, including the recent approval of tafamidis meglumine (Vyndaqel, Pfizer) and tafamidis (Vyndamax, Pfizer) to treat ATTR cardiomyopathy, Campbell observed.

Based on genetic testing, the most common TTR variant, Val-122 Ile allele (or PVI42I), occurs in about 3% to 4% of black Americans and manifests predominantly as cardiomyopathy.

Among patients with hereditary ATTR in the present study, 74% had the p.Val142Ile mutation. Their mean age at diagnosis was 70.3 years and 26.4% were Caucasian.

In this group, 17.6% of patients were diagnosed more than 4 years after establishing cardiac care, mainly for dyspnea (33.3%). The average time to diagnosis was 6.5 years (range 5-14 years).

Another 70.6% of patients were diagnosed within 3 years of presenting (average, 12.4 months) with chief complaints of dyspnea (54.5%), heart failure (27.2%), or edema (18%). The remaining 11.8% of hereditary ATTR patients had known amyloidosis at the time of the initial cardiology consult.

"I thought most of the amyloidosis patients would be seeing cardiology first when they were acutely ill with heart failure or had an elevated troponin during a hospital admission," Campbell said. "This does occur, but it often was more subtle. Most of these patients were first seeing cardiology in the outpatient setting with shortness of breath. I think we still have a lot more to learn."

Campbell reported the findings in an award-winning poster presentation at the American College of Cardiology: Advancing the Cardiovascular Care of the Oncology Patient conference.

In a second award-winning poster, Campbell and colleagues detail their institution's efforts to untangle this complex systemic disease by establishing a multidisciplinary Comprehensive Amyloidosis Clinic that includes hematologists, cardiologists, neurologists, nephrologists, nurse managers, physical therapists, and research coordinators.

Most new patient referrals are from hematology and oncology (58%), followed by cardiology (16%), family medicine (6%), and nephrology, neurology, and internal medicine (each, 4%).

Patients typically see members of the multidisciplinary Clinic team within a single morning, Campbell reported. Since the Clinic's inception in 2017, a total of 72 patients have been seen.

The average lag time between when the appointment was made and the clinic visit is 62.4 days, down from a peak of 115 days. Depending on urgency, patients also can be scheduled with Cardiology or Hematology within 1 week to complete work-up or initiate therapy, the authors noted.

Campbell and colleagues have disclosed no relevant financial relationships.

American College of Cardiology: Advancing the Cardiovascular Care of the Oncology Patient: Abstracts #63 and #70. Presented February 15, 2020.

Follow Patrice Wendling on Twitter: @pwendl. For more from theheart.org | Medscape Cardiology, join us on Twitter and Facebook


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