Amyloidosis Diagnosis and Treatment Strategies

Amyloidosis denotes a heterogeneous group of protein misfolding disorders characterised by the extracellular deposition of insoluble amyloid fibrils in multiple organs and tissues, resulting in progressive dysfunction. The predominant subtypes are immunoglobulin light-chain amyloidosis (AL) and transthyretin amyloidosis (ATTR), the latter subdivided into hereditary mutations and age-related wild-type ATTR. Clinical manifestations reflect the organ tropism of amyloid deposition, most commonly affecting cardiac function, renal filtration, peripheral nerves and the gastrointestinal tract. Diagnostic evaluation combines clinical assessment with laboratory assays of circulating biomarkers, non-invasive imaging techniques including bone scintigraphy and cardiac MRI, and histopathological confirmation by Congo red staining and fibril typing. Recent innovations have focused on enhanced detection through molecular imaging and automated image interpretation using artificial intelligence, as well as the identification of new serum markers for early disease and treatment response. Therapeutic strategies vary by subtype: AL amyloidosis is managed with plasma cell-directed chemotherapies and emerging targeted immunotherapies, whereas ATTR amyloidosis is addressed with transthyretin stabilisers, gene silencing therapies and, where appropriate, organ transplantation. Symptomatic management of heart failure, neuropathy and autonomic dysfunction remains integral to patient care. Despite rapid advances, barriers remain in optimising long-term outcomes and ensuring global access to specialised diagnostic tools and treatments.

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Amyloidosis Diagnosis and Treatment Strategies publication trend

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Technical terms

Amyloid fibrils: Insoluble aggregates of misfolded proteins that deposit extracellularly in organs and tissues.
Transthyretin amyloidosis (ATTR): A form of amyloidosis caused by misfolding of transthyretin, leading to hereditary or wild-type amyloid deposition.
AL amyloidosis: Amyloidosis resulting from monoclonal immunoglobulin light chains produced by a plasma cell clone.
Bone scintigraphy: Nuclear imaging technique using bone-avid radiotracers to visualise cardiac amyloid deposits non-invasively.
Left ventricular ejection fraction (LVEF): Percentage of blood ejected from the left ventricle during each cardiac cycle, a key measure of systolic function.
Mineralocorticoid receptor antagonists (MRAs): Medications that block aldosterone receptors, reducing fluid overload and myocardial fibrosis in heart failure.
Artificial intelligence (AI): Computational algorithms that analyse imaging data to improve diagnostic accuracy and prognostic prediction.

References

1. Conventional heart failure therapy in cardiac ATTR amyloidosis. European Heart Journal (2023).
2. Diagnosis and prognosis of abnormal cardiac scintigraphy uptake suggestive of cardiac amyloidosis using artificial intelligence: a retrospective, international, multicentre, cross-tracer development and validation study. The Lancet Digital Health (2024).
3. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. Journal of Neurology (2020).