Key Information
Abstract
Background
Heart failure is a clinical syndrome resulting from numerous pathological conditions. One cause of heart failure, transthyretin cardiac amyloidosis, presents insidiously with common and seemingly unrelated symptoms. New treatments for cardiac amyloidosis are available that extend and improve life. However, providers are not testing patients for transthyretin cardiac amyloidosis. We took a systems science approach to explore the system of care for transthyretin cardiac amyloidosis testing by depicting the healthcare system from patient presentation to treatment. Our goal was to define an ideal healthcare system to improve the uptake of testing protocols and enhance patient outcomes.
Methods
We assembled clinicians, researchers, and patients to participate in a co-design workshop using the first step of System Evaluation Theory to define an ideal testing and diagnostic protocol using transthyretin cardiac amyloidosis as a case study. We tasked workshop attendees with defining the patient and clinician journey from symptom presentation to diagnosis. We generated a system map using a qualitative matrix analysis of a transcript of the workshop discussion.
Results
The matrix analysis organized input from all stakeholders, allowing for the creation of a system map that reveals the complexity of the transthyretin cardiac amyloidosis testing process and potential implementation strategies to improve the efficiency and effectiveness of the system. This methodology successfully yielded generalizable elements of a testing protocol and testable strategies to facilitate the implementation of a protocol adapted to fit local site needs.
Conclusions
The substeps outlined within System Evaluation Theory Step 1 helped identify an ideal system for testing and diagnosing transthyretin cardiac amyloidosis care that could be applied to specific settings to identify, improve, and implement protocols for other complex diseases.
Introduction
Although implementing evidence-based guidelines to diagnose and treat medical conditions can prolong life, they are often underutilized [1external link, opens in a new tab]. While reasons for guideline underutilization for individual medical conditions vary, a challenge for many chronic conditions lies in the need for coordination between primary care providers and clinicians with a wide range of specialized expertise [2external link, opens in a new tab]. In these cases, successful guideline implementation often depends on individual, clinical, departmental, and organizational-level interactions [3external link, opens in a new tab,4external link, opens in a new tab]. These multi-level influences can make defining implementation steps perplexing [5external link, opens in a new tab]. Thus, a methodological protocol for identifying potential processes for coordinating and integrating specialized knowledge could be the first step toward improving guideline implementation. Our goal was to test and adapt an existing protocol for mapping a complex system. As a case study, we chose to map a multidisciplinary system of healthcare for earlier diagnosis of an under-recognized complex chronic condition, cardiac amyloidosis (CA) [6external link, opens in a new tab,7external link, opens in a new tab]. Cardiac amyloidosis results from misfolding of proteins that then collects within the heart muscles as amyloid fibrils and causes cardiac structural and functional impairments [8external link, opens in a new tab]. There are two major types of proteins often associated with cardiac amyloidosis – monoclonal immunoglobulin light change (AL) and transthyretin (ATTR) which could be a wild-type (often associated with aging) or due to a genetic mutation (variant) [8external link, opens in a new tab]. Because transthyretin proteins can settle in other tissues, clinical manifestations may include musculoskeletal symptoms, polyneuropathy and autonomic dysfunction [8external link, opens in a new tab]. Early diagnosis and treatment are preferred to prevent progression of the disease, improve quality of life and increase survival