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Amyloid. 2019 Mar;26(1):3-9. doi: 10.1080/13506129.2018.1556156. Epub 2019 Feb 22.

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

Author information

1
a CHLN-Hospital Santa Maria, IMM, Universidade de Lisboa , Lisbon , Portugal.
2
b Referral Center for Cardiac Amyloidosis, Department of Cardiology, Amyloid Research Institute, DHU A-TVB, Henri Mondor Hospital, APHP, IMRB and UPEC, Créteil, France.
3
c Hospital Universitario Virgen de la Victoria , Malaga , Spain.
4
d Hospital Clinico San Carlos , Madrid , Spain.
5
e CHU La Timone , Marseille , France.
6
f UOC Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
7
g Universita Cattolica del Sacro Cuore, Rome, Italy.
8
h Wolfson Medical Center , Holon , Israel.
9
i Clinic of Neurology, Alexandrovska Hospital, Department of Neurology , Medical University , Sofia , Bulgaria.
10
j Department of Cognitive Science and Psychology , New Bulgarian University , Sofia , Bulgaria.
11
k Department of Neurology , Kumamoto University , Kumamoto , Japan.

Abstract

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.

KEYWORDS:

ATTR; amyloidosis; carrier; diagnosis; follow up; hereditary; minimum criteria for diagnosis; predicted age of disease onset; transthyretin

PMID:
30793974
DOI:
10.1080/13506129.2018.1556156
[Indexed for MEDLINE]

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