Fabry Disease in Cardiology Practice: From Red Flags to Diagnosis

Author: Sanofi Editorial Team

Sanofi Editorial Team

Cardiac Manifestations of Fabry Disease
and Eﬀective Approaches for Cardiologists

• FD is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to Gb3 accumulation in tissues, including the heart.¹
• Cardiac involvement is the leading contributor to reduced QoL and mortality in patients with FD.¹

Challenges and unmet needs

Gaps in
diagnostics
and screening

• Family screening is limited; underlining the need for broader
screening initiatives and early intervention.²
• Lack of heart-specific biomarkers for early detection and
disease monitoring.³
• Absence of validated prognostic stratification tools to predict
cardiac progression and risk.³

• FD remains underdiagnosed due to limited awareness, especially
in patients with unexplained LVH.²
• Among cardiologists, diagnosis is often delayed, with initial
diagnosis of FD by other specialists, leaving cardiologists for
later stage management.⁴

Limited
awareness
among HCPs

Cardiologists are central to diagnosis, cardiac management, treatment
timing, family screening, and research in FD.⁴

What cardiologists need to know about FD?

Pathophysiology of cardiac involvement⁵	FD mimics common cardiac conditions⁵
• GL-3 accumulates in all cardiac cell types • Lyso-GL-3 drives cardiomyocyte hypertrophy •Cellular dysfunction occurs early • Progression leads to myocardial fibrosis	• Typically presents as LVH • Mimics hypertrophic cardiomyopathy (HCM)

Clinical manifestations¹

Diagnosing Fabry Disease

Cardiac imaging¹

Close collaboration between cardiologists and other specialists is essential for timely
diagnosis of FD in patients and to maximize therapy outcomes.¹

Abbreviations
FD: Fabry Disease; QoL: Quality of Life; LSD: Lysosomal Storage Disorder; α-Gal A: Alpha-galactosidase A; Gb3 / GL-3: Globotriaosylceramide; Lyso-Gb3 / Lyso-GL-3: Globotriaosylsphingosine; LVH: Left Ventricular Hypertrophy; HCM: Hypertrophic Cardiomyopathy; ECG: Electrocardiography; PQ interval: PR interval; AV block: Atrioventricular block; 2D Echo: Two-dimensional Echocardiography; CMR: Cardiac Magnetic Resonance; LGE: La te Gadolinium Enhancement; T1: Native T1 relaxation time; HFpEF: Heart Failure with Preserved Ejection Fraction; ERT: Enzyme Replacement Therapy; CV: Cardiovascular; CVD: Cardiovascular Disease; IV: Intravenous; GLA: Galactosidase Alpha gene

References:

MAT-BH-2600191 - v1- April2026

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