Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations

Isabel Conceição, Thibaud Damy, Manuel Romero, Lucía Galán, Shahram Attarian, Marco Luigetti, Menachem Sadeh, Stayko Sarafov, Ivailo Tournev, Mitsuharu Ueda

Research output: Contribution to journalArticlepeer-review


Diagnosis in the early stages of hereditary transthyretin (ATTR) amyloidosis is imperative to support timely treatment to prevent or delay disease progression. Genetic testing in the setting of genetic counselling enables identification of carriers of a TTR gene mutation who are therefore at risk of developing TTR-associated disease. Knowledge of different genotypes and how they manifest in symptomatic disease should facilitate development of a structured and targeted approach to enable diagnosis of symptomatic disease in ATTR amyloidosis mutation carriers on the first manifestation of the earliest detectable sign or symptom. A group of experts from across Europe, Israel and Japan met to reach a consensus on such an approach. The proposed approach involves establishing a baseline for key clinical parameters, determination of the timing and frequency of follow-up in TTR mutation carriers based on a predicted age of disease onset, and recognition of the likely initial clinical signs and symptoms aligned with the phenotype of the specific TTR gene mutation and family history. Minimum criteria for diagnosis of symptomatic disease have been agreed, which it is hoped will ensure diagnosis of ATTR amyloidosis at the earliest possible stage in people with a known TTR mutation.

Original languageEnglish
Pages (from-to)3-9
Number of pages7
JournalAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis
Issue number1
Publication statusPublished - Mar 2019


  • Age of Onset
  • Amyloid Neuropathies, Familial/diagnosis
  • Early Diagnosis
  • Genetic Testing
  • Humans
  • Medical History Taking
  • Mutation
  • Practice Guidelines as Topic
  • Prealbumin/genetics


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