ArticleEuropean journal of neurology2024
Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.
Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 17 citations in OpenAlex.
- Prevalence of cardiac amyloidosis in screening studies: a systematic review and meta-analysis.ESC heart failure · 2026Pooled it
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Impact of patisiran on polyneuropathy of hereditary transthyretin amyloidosis in patients with a V122I or T60A variant: a phase IV multicenter study.Annals of medicine · 2025Trial
- Disease-Modifying Therapies for Hereditary Transthyretin Amyloidosis with Polyneuropathy: Current Status and Future Perspectives.Neurology and therapy · 2026Review
- The role of "red flags" in the diagnostic work-up of hereditary transthyretin amyloidosis: a study using a machine-learning approach.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Multidisciplinary Approaches for Diagnosing Underrecognized Transthyretin Amyloidosis in Real-World Practice.Acta Cardiologica Sinica · 2026Article
- Best Practices and Key Barriers for Amyloidosis Patient Care at US Specialized Amyloidosis Centers: An Analysis by ARC-ASPIRE.Clinical Medicine Insights. Cardiology · 2026Article
- Membranous nephropathy concurrent with renal amyloidosis: a six-patient report and literature review.Renal failure · 2025Review
- Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.Annals of medicine · 2025Review
- Peripheral Nerve Ultrasound Findings in Hereditary Transthyretin Amyloidosis in Brazil.Diagnostics (Basel, Switzerland) · 2025Article
- Hereditary transthyretin cardiac amyloidosis with Glu109Lys mutation presenting with low sensitivity toQuantitative imaging in medicine and surgery · 2025Article
- Genetic Screening for Hereditary Transthyretin Amyloidosis in the Population of Cammarata and San Giovanni Gemini Through Red Flags and Registry Archives.Brain sciences · 2025Article
- Expanding the Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis: The Glu61Ala Variant.Journal of personalized medicine · 2025Article
- Left Ventricular Deformation and Myocardial Work Parameters in Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran: A Single-Center Study.Journal of clinical medicine · 2024Article
- Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in theBrain sciences · 2024Article
- Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic.European journal of neurology · 2024Article
- Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient: Case report of a diagnostic challenge.Clinical medicine insights. Case reports · 2024Article
- Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review.Biomedicines · 2023Review
- Hereditary Transthyretin Amyloidosis: How to Differentiate Carriers and Patients Using Speckle-Tracking Echocardiography.Diagnostics (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
Abstract
background and purposeHereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils.
methodsA prospective systematic genetic screening for ATTRv-PN was proposed in patients presenting with a sensory-motor idiopathic polyneuropathy and two or more "red flags" among the following: family history of polyneuropathy or cardiopathy, bilateral carpal tunnel syndrome, cardiac insufficiency, renal amyloidosis, lumbar tract stenosis, autonomic dysfunction, idiopathic gastrointestinal disease, amyloid deposits on biopsy, and vitreous opacities. The detection rate was calculated, and nonparametric analyses were carried out to underline differences among screened positive versus negative patients.
resultsIn the first step, 145 suspected patients underwent genetic testing, revealing a diagnosis of ATTRv-PN in 14 patients (10%). Then, cascade screening allowed early recognition of 33 additional individuals (seven symptomatic ATTRv-PN patients and 26 presymptomatic carriers) among 84 first-degree relatives. Patients with a positive genetic test presented a higher frequency of unexplained weight loss, gastrointestinal symptoms, and family history of cardiopathy.
conclusionsA systematic screening for ATTRv-PN yielded an increased recognition of the disease in our neurological clinic. Unexplained weight loss associated with axonal polyneuropathy had the highest predictive value in the guidance of clinical suspicion. A focused approach for the screening of ATTRv-PN could lead to an earlier diagnosis and identification of asymptomatic carriers, who will be promptly treated after a strict follow-up at the clinical onset.
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