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Fabry Early Treatment Window — EECC MCQ

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ModerateCardiomyopathyFabry Early Treatment WindowEECC

A 40-year-old man with confirmed Anderson-Fabry disease has developed stage 3 CKD, cornea verticillata, and acroparaesthesia. His echocardiogram shows concentric LVH (MWT 14 mm) with LVEF 60%. CMR shows low native T1 but no LGE. Has he been started on disease-specific treatment early enough?

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Correct answer: B — Yes — this represents early cardiac involvement (LVH without fibrosis/LGE), which is the optimal window for ERT or migalastat initiation; once extensive LGE develops, the fibrosis is irreversible and treatment benefit is reduced

The treatment paradigm for Fabry cardiomyopathy emphasises early initiation: (1) PRE-FIBROSIS stage (LVH with low T1, no LGE): ERT (agalsidase alfa or beta) or migalastat (for amenable mutations) can slow or halt disease progression — this is the therapeutic window with the best outcomes; (2) EARLY FIBROSIS stage (small amount of inferolateral LGE): treatment can stabilise disease but cannot reverse existing fibrosis; (3) ADVANCED FIBROSIS stage (extensive LGE, declining LVEF): treatment benefit is limited — the fibrotic substrate is irreversible and arrhythmic risk persists. Low native T1 on CMR is the earliest detectable cardiac abnormality in Fabry (before LVH develops on echo), making CMR with T1 mapping a valuable screening/monitoring tool. The ESC 2023 Cardiomyopathy Guidelines emphasise early treatment initiation.

Reference: ESC (2023): Cardiomyopathies Guidelines