TRANSTHYRETIN AMYLOIDOSIS - SYMPTOMS, DIAGNOSIS, TREATMENT - A SYSTEMIC REVIEW

Abstract

Background: Transthyretin amyloidosis (ATTR) is a rare, progressive systemic disorder caused by extracellular deposition of misfolded transthyretin, most commonly affecting the heart and peripheral nervous system. Because early manifestations are nonspecific, the disease is often under-recognised and diagnosed late, when organ damage is advanced.

Methods: We performed a narrative review of the literature using PubMed and Google Scholar, searching for clinical and translational studies on transthyretin amyloidosis, with particular focus on symptoms, diagnostic pathways, and currently available as well as emerging treatments. Additional references were identified from the reference lists of key articles.

Results: ATTR may present with a broad spectrum of cardiac, neurologic, gastrointestinal, musculoskeletal, and autonomic symptoms. Red-flag features include unexplained heart failure with preserved ejection fraction, increased ventricular wall thickness with low QRS voltages, bilateral carpal tunnel syndrome, lumbar spinal stenosis, and biceps tendon rupture. Diagnosis relies on a combination of clinical assessment, biomarkers, advanced imaging, and tissue biopsy when required, together with exclusion of light-chain amyloidosis. Disease-modifying therapies, particularly transthyretin stabilisers and gene-silencing agents, have significantly improved prognosis, especially when initiated early in the disease course.

Conclusions: Clinicians should maintain a high index of suspicion for ATTR in patients with compatible multi-system features. Timely recognition and appropriate use of non-invasive diagnostic algorithms allow earlier initiation of targeted therapy, which is crucial for improving survival and quality of life in transthyretin amyloidosis.