Storytelling is a powerful tool that continuously drives knowledge development and sharing about the patient experience with managing hereditary diseases and comorbidities, including patient values and preferences, and medication adherence and persistence. Patient stories are often key to developing patient-reported outcomes (PROs) data that are specific to or reflective of a patient’s lived experience, most bothersome or frequent symptoms, and socioeconomic circumstances (Kwan et al., 2016; Boyd et al., 2023; Boyd et al., 2023). Thus, there is power in the potential to leverage patient stories to inform the development of new or refinement of existing PRO collection tools for more accurate and timely diagnosis and optimizing the management and treatment of rare diseases, which are often challenging to diagnose particularly among minority populations (e.g., Patient Reported Outcomes Measurement Information System [PROMIS®], United States [US] National Cancer Institute’s PRO-CTCAE, Transthyretin Amyloidosis—Quality of Life Questionnaire [ATTR-QOL], interviews, and focus groups; D’Souza et al., 2023; O’Connor, 2023). Below we discuss the potential benefits of incorporating patient stories into PRO instruments to screen and manage African, African American, and/or Afro-Caribbean (A/AA/AC) patients with suspected amyloidosis, a rare disease that occurs when a protein called amyloid builds up in organs (heart, kidneys, liver, spleen, digestive tract, and nervous system).
There are 18 different types of systemic forms of amyloidosis, as well as 22 localized forms. Two major forms of amyloidosis include but are not limited to immunoglobulin light chain (AL) and transthyretin amyloidosis (ATTR; Benson et al., 2020). Additional forms of amyloidosis beyond these two types are secondary, dialysis-related, hereditary (hATTR), organ-specific, insulin-related, or associated with a myriad of pathologies (Gorevic, 2023). Based on stories shared broadly to date, A/AA/AC patients with amyloidosis often experience a lengthy diagnostic odyssey following initial presence of clinical symptoms. Confusion among themselves, their families, and their healthcare providers often cause delays in diagnosis, misdiagnosis, and/or treatment. Such delays directly contribute to often-fatal outcomes observed. Therefore, all of these factors considered, the true prevalence of AL and ATTR amyloidosis, among other forms, across A/AA/AC populations is neither well-understood nor well-documented in the literature.
To help address this issue and better serve these populations and health systems they encounter, we highlight and discuss patient stories from A/AA/AC patients living with AL and ATTR amyloidosis. We also, 1) summarize the underlying disease etiology; 2) share A/AA/AC amyloidosis patient stories to inform or enrich PRO themes that may convey the important spectrum of the patient experience, from symptom onset, to diagnosis, to treatment and/or management; and 3) inform efforts toward the development of data elements, fields, and features within electronic health record systems that may better align with these patient experiences and stories.
Signs and symptoms of amyloidosis in A/AA/AC patients
Cardiac amyloidosis is caused by abnormal amyloid protein aggregate deposits that form insoluble plaques in the myocardium, leading to a progressive disorder that often results in restrictive cardiomyopathy (see Figure 1; Ruberg et al., 2019; Williams et al., 2022). Tetrameric thyroxine transport protein transthyretin (TTR) is a homotetrameric protein complex that is synthesized in and secreted by the human liver for retinol and vitamin A transfer within the circulatory system (Saelices and Cascio, 2015; Saelices and Johnson, 2015). The most common mutation associated with hATTR is the V122I (pV142I) allele, whereas a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in TTR-derived fibrils (Buxbaum and Ruberg, 2017). Thus, suspected cases of transthyretin amyloid cardiomyopathy (ATTR-CM) and hATTR among individuals of A/AA/AC descent must often include, in addition to the gold standard cardiac biopsy, molecular testing to confirm the presence or absence of a TTR mutation (Dungu, 2015).