ReviewOrphanet journal of rare diseases2013
Guideline of transthyretin-related hereditary amyloidosis for clinicians.
Review in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 283 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
283 citing papers in PubMed, 6 syntheses or guidelines pooled it, 709 citations in OpenAlex.
- Epidemiology of transthyretin (ATTR) amyloidosis: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Neurofilament Light Chains in Systemic Amyloidosis: A Systematic Review.International journal of molecular sciences · 2024Pooled it
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Chemistry, Biological Properties, and Bio-analysis of Tafamidis, a New Transthyretin Stabilizer: A Systematic Review.Cardiovascular & hematological agents in medicinal chemistry · 2024Pooled it
- Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.European journal of hospital pharmacy : science and practice · 2020Pooled it
- Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Pooled it
- Impact of Baseline Polyneuropathy Severity on Eplontersen Efficacy in the NEURO-TTRansform Clinical Trial.Journal of the peripheral nervous system : JPNS · 2026Trial
- Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy: An Exploratory Analysis of Treatment Effect in Male and Female Patients.Muscle & nerve · 2026Trial
- Estimating Meaningful Differences in Measures of Neuropathic Impairment, Health-Related Quality of Life, and Nutritional Status in Patients With Hereditary Transthyretin Amyloidosis.Muscle & nerve · 2025Trial
- The impact of inotersen on Neuropathy Impairment Score in patients with hereditary transthyretin amyloidosis with polyneuropathy.BMC neurology · 2023Trial
- Patisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation.American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons · 2022Trial
- Ligand conjugated antisense oligonucleotide for the treatment of transthyretin amyloidosis: preclinical and phase 1 data.ESC heart failure · 2021Trial
- Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial.European journal of neurology · 2020Trial
- A phase II, open-label, extension study of long-term patisiran treatment in patients with hereditary transthyretin-mediated (hATTR) amyloidosis.Orphanet journal of rare diseases · 2020Trial
- Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.Journal of neurology · 2020Trial
- Neurologic Stability During Tafamidis Treatment in Transthyretin Amyloidosis with a Mixed Phenotype: A Multicenter Real-World Study.Cardiology and therapy · 2026Article
- Unilateral vitreous amyloidosis as the presenting feature of hereditary transthyretin amyloidosis (TTR p.Val50Met): a case report and focused literature review.BMC ophthalmology · 2026Review
- From stabilization to silencing in transthyretin amyloid cardiomyopathy: why sequencing should be treat-to-trajectory, not 'one-and-done'.European heart journal. Cardiovascular pharmacotherapy · 2026Review
- Cryo-EM structures of biopsy-derived TTR fibrils in hereditary transthyretin amyloidosis.Nature communications · 2026Article
- Cost analysis of transthyretin amyloid cardiomyopathy in heart failure patients with preserved ejection fraction in Spain.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
223 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis--and, specifically, familial amyloidotic polyneuropathy--so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacotherapies that have shown promise in clinical trials.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.