P207 DIAGNOSTIC PATHWAY OF CARDIAC AMYLOIDOSIS. INSIGHTS FROM CUNEO HOSPITAL

Abstract

Abstract Introduction In the last fifteen years, thanks to the refinement of non–invasive diagnostic techniques, there has been a clear increase in the diagnosis of amyloidosis. From this need arises the establishment of a specific out–patients department in order to guarantee the best path of diagnosis and treatment. Methods Since 2018 we have begun to suspect cardiac amyloidosis in hospitalized patients with heart failure with preserved ejection fraction and clinical and/or instrumental red flags: left ventricular hypertrophy unexplained by other causes, biatrial enlargement, minimal pericardial effusion, history of carpal tunnel, low voltages in peripheral leads, elevated values ​​of cardiac biomarkers. In these patients we excluded AL amyloidosis by searching for monoclonal components and at the same time we performed a myocardial scintigraphy with diphosphonates. In the case of positive scintigraphy, patients are taken care of at our cardiology rare disease outpatient clinic. We believe that this collaboration is essential for the correct management of the patient with amyloidosis, especially in an area like ours where there is a high prevalence of a mutation, val30met, with prevailing initial neurological involvement. Results From 2019, 156 patients underwent bone scintigraphy with diphosphonates. The average age is 78 years. 87 scintigraphies were positive (Perugini 2–3), 47 patients were diagnosed with TTRwt amyloidosis, 3 with TTRv amyloidosis, 38 are awaiting genetic testing. 34% underwent organ biopsy (of which 10 patients underwent salivary gland biopsy, 3 patients underwent periumbilical fat biopsy and 1 patient underwent BEM at another center. 25% underwent cardiac MRI. 7 patients underwent started in Tafamidis. Conclusions Amyloidosis is a frequently underdiagnosed disease. An early diagnosis is crucial to undertake, in cases that allow it, a specific therapy: chemotherapy in the case of AL amyloidosis or disease–modifying drugs in the case of TTR. The experience of our center has shown us how a multidisciplinary approach and a specific diagnostic path are crucial to achieve an early diagnosis in order to establish therapeutic paths that can modify natural history of the disease.