In a position statement published in Orphanet Journal of Rare Diseases, experts suggest that understanding the course of hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) can be best accomplished by leveraging a multidisciplinary team to monitor the symptoms and manifestations of the disease.
hATTR amyloidosis is a rare, progressively debilitating disease that is caused by pathogenic variants in the transthyretin (TTR) gene. Misfolded amyloid fibrils build up in the extracellular spaces of several organs and tissues, resulting in disease that affects multiple organ systems. Patients can present with neuropathy and cardiomyopathy among other symptoms.
Disease progression varies among patients and by the organs affected, and hATTR symptoms can worsen rapidly if the disease goes untreated. Several disease-modifying therapies have been approved over the past 3 decades, but prescribers need to carefully monitor the signs of disease progression to guide their choice of therapy and the timing of initiation.
The authors of the position statement, each of whom have expertise in hATTR amyloidosis, convened to create a set of recommendations around monitoring and disease progression.
“The recommendations have 3 aims. First, to identify the signs, symptoms, and tests with which to monitor patients with [hATTR] amyloidosis. Second, to define changes in the identified measures that signify meaningful disease progression and thereby identify nonresponders. Finally, to specify the frequency of disease-monitoring assessments required for timely identification of progression,” they wrote.
These recommendations included the following:
The authors concluded by noting that despite the encouraging advances in treatment for hATTR amyloidosis, the optimal management of disease that progresses after first-line treatment is still uncertain, and there is an unmet need for consensus around identifying patients whose disease does not respond to treatment and modifying their treatment strategy.
“We hope that our recommendations can contribute toward this goal by providing definitions and examples of clinically meaningful disease progression,” they wrote.
Adams J, Algalarrondo V, Polydefkis M, Sarswat N, Slama MS, Nativi-Nicolau J. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021;16(1):411. doi:10.1186/s13023-021-01960-9