Evaluating Cardiovascular Disease Burden Before a Diagnosis of Hereditary Transthyretin Amyloidosis

Progressive infiltrative cardiac involvement with cardiac symptoms often occurs years prior to diagnosis of hereditary transthyretin amyloidosis (hATTR). Investigators evaluated whether patients with hATTR signaled significant cardiovascular (CV) symptoms as well as healthcare utilization before being diagnosed.

Using a claims-based algorithm, patients recently diagnosed with hATTR were identified between January 2016 and December 2017. Control subjects who had not been diagnosed with hATTR were detected and matched based on age, gender, and region to patients with hATTR in a 3:1 ratio. The incidence of specified CV criteria and healthcare usage were assessed in the pre-index period (with index date defined as the date of first claim with an amyloidosis code during the identification period; the pre-index period was defined as the 5 years prior to index date). Charlson comorbidity index (CCI) and patient demographics were assessed 1 year pre-index.

For hATTR patients (N = 141), mean CCI was 2.7, compared with 1.1 for controls (N = 423). CV conditions occurred more frequently among hATTR patients compared with controls in the pre-index period: atrial fibrillation or flutter (18.0% vs 8.9%), aortic stenosis (10.6% vs 4.5%), bleeding (41.8% vs 21.3%), chest pain (51.8% vs 28.1%), dyspnea (49.6% vs 25.8%), edema (27.0% vs 12.8%), heart failure (23.4% vs 5.9%), hypotension (18.4% vs 6.1%), ventricular hypertrophy (19.9% vs 5.7%), and stroke (12.8% vs 6.1%). Cardiac testing (81.6% vs 65.7%), hospitalization rates (47.5% vs 24.3%), and emergency department visits (60.3% vs 47.0%) occurred more frequently among hATTR patients compared with the controls.

The time between hATTR diagnosis and initial symptom manifestation varied based on presenting condition, but in general exceeded 3 years. The median time between initial presentation of symptoms and hATTR diagnosis was 43.0 months for patients who experienced chest pain, 41.1 months for dyspnea, 39.2 months for aortic stenosis, and 34.3 months for atrial fibrillation/flutter.

The investigators concluded that in the 5 years preceding their diagnosis, patients with hATTR have considerable CV disease burden. This study highlights how early diagnosis and clinical intervention may be prompted by increased recognition of specific CV manifestations.

Source: Llonch MV, Ortiz-Pérez JT, Reddy SR, et al. Cardiovascular disease burden prior to hereditary transthyretin amyloidosis diagnosis. Presented at: Heart Failure Society of America Symposium 2020; September 30-October 6, 2020. Abstract 355.

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