Evidence map›Paper›PMID 35419651›Full record

ArticleAdvances in therapy2022

Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.

Julian D Gillmore, Mary M Reilly, Caroline J Coats, Rob Cooper, Helen Cox, Mark R E Coyne, Andrew J Green, Ruth McGowan, William E Moody, Philip N Hawkins

Open access · hybridAbstract readConsensus Statement
In one paragraph

Article in Advances in therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Review
  4. Article
  5. Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.Journal of the peripheral nervous system : JPNS · 2025
    Article
  6. Article
  7. Article
  8. Review
  9. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 8 institutions in 2 countries.

Julian D Gillmore *National Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK.
Mary M Reilly *Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.
Caroline J CoatsQueen Elizabeth University Hospital, Glasgow, UK.
Rob CooperLiverpool Heart and Chest Hospital, Liverpool, UK.
Helen CoxBirmingham's Women's and Children's Hospital, Birmingham, UK.
Mark R E CoyneUniversity College Dublin and Affiliated Hospitals, Dublin, Ireland.
Andrew J GreenDepartment of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.
Ruth McGowanWest of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
William E MoodyQueen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
Philip N HawkinsNational Amyloidosis Centre, Division of Medicine, UCL, Royal Free Hospital, Rowland Hill Street, London, NW3 2PF, UK. p.hawkins@ucl.ac.uk.
Queen Elizabeth University Hospital · GBUniversity College London · GBBirmingham Women's Hospital · GBChildren's Health Ireland at Crumlin · IELiverpool Heart and Chest Hospital · GBNational Hospital for Neurology and Neurosurgery · GBQueen Elizabeth Hospital · GBUniversity College Dublin · IE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary transthyretin-mediated amyloidosis (hATTR) is challenging to diagnose early owing to the heterogeneity of clinical presentation, which differs according to the TTR gene variant and its penetrance in each individual. The TTR variants seen most frequently in the UK and Ireland (T80A, V142I and V50M) differ to those commonly occurring in other geographic locations and warrant a specific consideration for diagnosis and genetic testing. In addition, recent availability of treatment for this condition has reinforced the need for a more consistent approach to the management of patients, including access to specialist services, genetic testing and counselling, and clinical investigation for families living in the UK and Ireland. A multidisciplinary panel of experts from the UK and Ireland was convened to identify the current challenges, provide recommendations, and develop a consensus for the diagnosis and screening of people with, or at risk of, hATTR. Over a series of meetings, experts shared their current practices and drafted, refined and approved a consensus statement. This consensus statement provides recommendations for three different groups: (1) people with symptoms raising a possibility of hATTR amyloidosis; (2) people with biopsy-confirmed hATTR amyloidosis; and (3) people without symptoms who may have hATTR amyloidosis (i.e. relatives of people with identified TTR variants). For each group, recommendations are made for the required steps for the diagnosis and follow-up of symptomatic patients, and for guidance on the specialist support for counselling and pre-symptomatic genetic testing of at-risk individuals. This guidance is intended to be practical and based on available evidence. The aim is for regional amyloid specialist centres to provide timely diagnosis, clinical screening, and treatment for individuals and their families with hATTR amyloidosis.

Indexed as

Amyloid Neuropathies, FamilialPrealbuminHumansIrelandUnited KingdomPrealbuminATTRExpert opinionGenetic screeningHereditary transthyretin amyloidosis

Identifiers

PMID35419651
PMCPMC9122857
OpenAlexW4224069159

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.