RT Journal Article
T1 Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.
A1 Conceição, Isabel
A1 Damy, Thibaud
A1 Romero, Manuel
A1 Galán, Lucía
A1 Attarian, Shahram
A1 Luigetti, Marco
A1 Sadeh, Menachem
A1 Sarafov, Stayko
A1 Tournev, Ivailo
A1 Ueda, Mitsuharu
K1 ATTR
K1 amyloidosis
K1 carrier
K1 diagnosis
K1 follow up
K1 hereditary
K1 minimum criteria for diagnosis
K1 predicted age of disease onset
K1 transthyretin
AB 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.
YR 2019
FD 2019-02-22
LK http://hdl.handle.net/10668/13609
UL http://hdl.handle.net/10668/13609
LA en
DS RISalud
RD Apr 7, 2025