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Publications

Journal Article Review Ahead of print 1 citation

PubMed: 42695486 DOI: 10.1080/13506129.2026.2718204

Susceptibility and screening approaches in systemic amyloidosis: expert perspectives from the International Society of Amyloidosis (ISA).

Amyloid

Authors: Taxiarchis Kourelis, Raymond Comenzo, Andrea Cortese, Justin L Grodin, Martha Grogan, Paolo Milani, Frederick L Ruberg, Yoshiki Sekijima, Lukas D Weberling, Efstathios Kastritis, Kevin M Alexander

Affiliations

  • Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN, USA.
  • The Tufts Medicine Myeloma and Amyloid Program, Tufts Medical Center, Boston, MA, USA.
  • Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK. Department of Medical Biotechnology and Translational Medicine, Università Degli Studi Di Milano, Milan, Italy. Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Department of Medical Biotechnology and Translational Medicine, Università Degli Studi Di Milano, Milan, Italy.
  • Unit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Division of Cardiology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA.
  • Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, USA.
  • Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, Pavia, Italy.
  • Boston University Chobanian & Avedisian School of Medicine, Cardiovascular Center, Boston, MA, USA.
  • Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
  • Department of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Department of Cardiology, Angiology and Pneumology, Heidelberg University Hospital, Germany.
  • Stanford Amyloid Center, Department of Medicine, Division of Cardiovascular Medicine, Stanford University, CA, USA.

Abstract

BACKGROUND

Systemic amyloidosis is a progressive disease in which misfolded protein toxicity and deposition lead to organ dysfunction. Early diagnosis is essential to enable timely treatment and prevent irreversible organ damage, yet the disease remains underrecognized. Although advances in imaging and biomarkers have raised suspicion in appropriate contexts, a major barrier is the absence of clearly defined factors identifying individuals at high risk who warrant timely screening.

METHODS

On behalf of the International Society of Amyloidosis (ISA), experts in the field reviewed the diagnostic landscape and identified unmet needs in the early detection of systemic amyloidosis.

RESULTS

The experts highlighted a lack of risk-adapted screening strategies capable of improving detection while avoiding inefficient population-level screening. They identified parameters that may help define high-risk populations, including biomarkers, susceptibility factors, demographic variables, and clinical 'red flags'. They further discussed how artificial intelligence (AI)-driven tools may support identification of at-risk individuals and accelerate diagnosis in suspected amyloidosis.

CONCLUSIONS

Defining high-risk populations and integrating AI-based tools may enable risk-adapted screening that improves early diagnosis while avoiding indiscriminate population-level testing.

MeSH

Early Diagnosis, Biomarkers, Amyloidosis, Diagnosis, Artificial Intelligence