ArticleBMC family practice2020
Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner.
Article in BMC family practice, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 3 of them syntheses that pooled it.
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Who cites it
51 citing papers in PubMed, 3 syntheses or guidelines pooled it, 105 citations in OpenAlex.
- A systematic review for the evidence of recommendations and guidelines in hybrid nuclear cardiovascular imaging.European journal of nuclear medicine and molecular imaging · 2024Pooled it
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Suspicion, screening, and diagnosis of wild-type transthyretin amyloid cardiomyopathy: a systematic literature review.ESC heart failure · 2022Pooled it
- Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact.European heart journal · 2026Article
- Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.Journal of neuromuscular diseases · 2026Article
- Wearables for Telemonitoring in ATTR-Amyloidosis: Current Perspectives.Sensors (Basel, Switzerland) · 2026Review
- Sex Differences in Hospitalizations in the 6 Months Before a Diagnosis of Transthyretin Amyloid Cardiomyopathy.JACC. Advances · 2026Article
- Development and validation of an echocardiographic nomogram for identifying cardiac amyloidosis in patients with left ventricular hypertrophy.BMC cardiovascular disorders · 2025Article
- Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2025Article
- Prevalence of hereditary transthyretin amyloidosis in CIDP patients with red flags: a multicenter genetic screening and misdiagnosis analysis.Journal of neurology · 2025Article
- Transthyretin Amyloid Cardiomyopathy-2025 Update: Current Diagnostic Approaches and Emerging Therapeutic Options.Journal of clinical medicine · 2025Review
- Diagnosis and Management of Mixed Phenotype Hereditary Transthyretin Amyloidosis: A Case-Based, Canadian Perspective.CJC open · 2025Review
- Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.Journal of the American Heart Association · 2024Article
- The journey to diagnosis of wild-type transthyretin-mediated (ATTRwt) amyloidosis: a path with multisystem involvement.Orphanet journal of rare diseases · 2024Article
- 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
- Article
- Successful Treatment with Patisiran in Amyloid Polyneuropathy Harboring His90Asn Mutation in theBrain sciences · 2024Article
- Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Late-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2024Article
- Review
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Authors and funding
24 authors at 19 institutions in 8 countries.
Funding
Abstract
backgroundTransthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-threatening disease characterized by transthyretin (TTR) fibril deposition in organs and tissue. A definitive diagnosis of ATTR amyloidosis is often a challenge, in large part because of its heterogeneous presentation. Although ATTR amyloidosis was previously considered untreatable, disease-modifying therapies for the treatment of this disease have recently become available. This article aims to raise awareness of the initial symptoms of ATTR amyloidosis among general practitioners to facilitate identification of a patient with suspicious signs and symptoms.
methodsThese consensus recommendations for the suspicion and diagnosis of ATTR amyloidosis were developed through a series of development and review cycles by an international working group comprising key amyloidosis specialists. This working group met to discuss the barriers to early and accurate diagnosis of ATTR amyloidosis and develop a consensus recommendation through a thorough search of the literature performed using PubMed Central.
resultsThe cardiac and peripheral nervous systems are most frequently involved in ATTR amyloidosis; however, many patients often also experience gastrointestinal and other systemic manifestations. Given the multisystemic nature of symptoms, ATTR amyloidosis is often misdiagnosed as a more common disorder, leading to significant delays in the initiation of treatment. Although histologic evaluation has been the gold standard to confirm ATTR amyloidosis, a range of tools are available that can facilitate early and accurate diagnosis. Of importance, genetic testing should be considered early in the evaluation of a patient with unexplained peripheral neuropathy.
conclusionsA diagnostic algorithm based on initial red flag symptoms and manifestations of cardiac or neurologic involvement will facilitate identification by the general practitioner of a patient with clinically suspicious symptoms, enabling subsequent referral of the patient to a multidisciplinary specialized medical center.
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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.