(P21) Transthyretin Cardiomyopathy: An Underdiagnosed Pathology, Presenting with Common Geriatric Syndromes

Introduction: Symptomatology of transthyretin amyloidosis varies with organ involvement, but it almost invariably presents with the common geriatric syndromes. Transthyretin cardiac amyloidosis causes restrictive cardiomyopathy which if not diagnosed and treated early, leads to CHF with poor prognosis.

Geriatric syndromes (GSs) are clinical conditions resulting from impairments in multiple organ-systems, which have significant impact on quality of life of older adults in all settings, including post-acute long-term care.

Case Description: An 81-yr old man with atrial fibrillation and peripheral neuropathy has chronic constipation. Lifestyle modification and medications did not help. Colonoscopy did not indicate cause. His weight has gone down together with his appetite. “I used to be robust but now I am just a shadow of my old self.” He is depressed with his physical decline, frailty, and painful neuropathy. He had a fall and found to have orthostatic hypotension.

Dyspnea started 2 years ago, with echocardiogram showing concentric bi-ventricular hypertrophy. He was in heart failure (HF), and was diagnosed with transthyretin cardiomyopathy on cardiac imaging. Tafamidis (a transthyretin stabilizer to reduce systemic amyloid formation and deposition) and HF medications were started. He developed cardiogenic cirrhosis and ascites needing regular therapeutic paracentesis.

Patient had recent surgery for an incarcerated umbilical hernia which developed from his ascites. He was discharged to SNF prior to home.

Discussion: In ATTR amyloidosis, the liver produces unstable proteins that form fibrils which deposit systemically, leading to anatomic and functional disruption of organs. It can present as fatigue, autonomic dysfunction, anorexia, bowel habit changes, neuropathy, and muscle weakness. Cardiac involvement causes arrythmia, restrictive cardiomyopathy, and HF. Tafamidis prevents TTR deposition and slows down progression.

Age of onset and clinical presentation of ATTR amyloidosis highlight the geriatric syndromes. Healthcare providers of older adults with arrhythmia and restrictive cardiomyopathy should look for clinical cues including geriatric syndromes, do timely workup and treatment. This leads to better patient outcomes, with reduction in all-cause mortality and cardiovascular hospitalizations.

Our patient has chronic constipation, anorexia, an orthostatic hypotension-related fall, frailty syndrome, chronic pain from peripheral neuropathy, and depression. These geriatric syndromes, concomitant with atrial fibrillation and cardiomyopathy, should have warranted early work-up and treatment to prevent progression to HF, and could have avoided cardiogenic cirrhosis, ascites, paracentesis, umbilical hernia, and surgery.

We hope that this case report will also promote awareness, that geriatric syndromes are not normal consequences of aging, and are strong determinants of death, disability, and quality of life of older adults everywhere, including in post-acute long-term care settings.