Early Diagnosis Is Imperative in hATTR/ATTRv with Infiltrative Cardiac Involvement

Frequently associated with infiltrative cardiac involvement, and with cardiac signs sometimes occurring years prior to being diagnosed, hereditary transthyretin amyloidosis (hATTR or ATTRv [variant]) is a progressive and fatal disease. Rapid recognition and early diagnosis are essential, because treatments are available for ATTRv.

Within the clinical setting, nurses are uniquely positioned where they are capable of recognizing these early symptoms and signals; therefore, they can raise a red flag of clinical suspicion and disclose underlying ATTRv that has not yet been revealed diagnostically.

Llonch and colleagues investigated whether hATTR patients have substantial cardiovascular symptom manifestations and healthcare utilization before diagnosis.

The investigators used a claims-based algorithm to review IBM® MarketScan® Commercial and Medicare Supplemental data from the United States to identify patients with newly diagnosed ATTRv. During the identification (ID) period from January 2016 to December 2017, at least 1 claim with relevant amyloidosis diagnosis code (ie, International Classification of Diseases, 10th Revision, Clinical Modification [ICD-10-CM]: E85.0-.4, E85.89, E85.9) and the occurrence of at least 1 qualifying criterion during the period between 2011 and 2017 was required for diagnosis. The qualifying criterion included liver transplant, at least 15 days diflunisal use, or claim with code for neuropathic heredofamilial amyloidosis or unspecified heredofamilial amyloidosis. The date of the first claim with amyloidosis code in the ID period was the definition of index date, and the 5 years prior to the index date was defined as the preindex period. To focus on patients who were newly diagnosed, the investigators excluded patients with a preexisting ICD-9/10 amyloidosis code during this period. To identify and match control patients without hATTR by age, sex, and region, to patients with ATTRv in a 3:1 ratio, patients were assigned the same index and met the same continuous enrollment requisites during the preindex time frame.

In the preindex period, frequency of selected cardiovascular conditions and healthcare use were measured; Charlson comorbidity index (CCI) and demographics were measured 1 year preindex.

The mean patient age was 62.5 years and 53.9% of patients were female, among the 141 patients with hATTR and the 423 matched controls. For patients with ATTRv, the mean CCI was 2.7 compared with 1.1 for the controls.

Cardiovascular conditions and symptoms were more common among patients with ATTRv relative to controls in the preindex period: aortic stenosis (10.6% vs 4.5%; P =.008), atrial fibrillation/flutter (18.0% vs 8.9%; P <.001), chest pain (51.8% vs 28.1%; P <.001), dyspnea (49.6% vs 25.8%; P <.001), edema (27.0% vs 12.8%; P < .001), heart failure (23.4% vs 5.9%; P <.001), hypotension (18.4% vs 6.1%; P <.001), stroke (12.8% vs 6.1%; P = .011), and ventricular hypertrophy (19.9% vs 5.7%; P <.001) were more prevalent in the population of patients with ATTRv when compared with controls for each preindex year.

Cardiac imaging (56.7% vs 27.0%; P <.001), emergency department visits (60.3% vs 47.0%; P = .006), and hospitalizations (47.5% vs 24.3%; P <.001) were also more frequent among patients with ATTRv. Aortic stenosis (39.2 months), atrial fibrillation/flutter (34.3 months), chest pain (43.0 months), and dyspnea (41.1 months) had a median time from initial symptom manifestation to ATTRv diagnosis.

The investigators concluded that in the 5 years preceding diagnosis, patients with ATTRv experience considerable cardiovascular disease burden. By improving awareness among nurses, improved knowledge of characteristic cardiovascular symptoms may enhance clinical suspicion resulting in early diagnosis and quick intervention.

Source: Llonch MV, Chang E, Fine NM, et al. Cardiovascular Disease Burden Before Hereditary Transthyretin Amyloidosis Diagnosis. Presented at: The American Association of Heart Failure Nurses 17th Annual Meeting, June 17-19, 2021. Poster P009.

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