Fabry Disease

Overview of lysosomal storage disorder.

Reviewed by Dr Kola Tytler MBBS CertHE MBA MRCGP (General Practitioner)

Last reviewed: 21 October 2025

GeneticsNephrologyCardiologyNeurology

Clinical Guidelines

NICE guideline [HST4]: Migalastat for treating Fabry disease

NICE guideline [TA915]: Pegunigalsidase alfa for treating Fabry disease

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy

2024 Update of the Taiwan Society of Cardiology Expert Consensus of Fabry Disease

An expert consensus document on the management of cardiovascular involvement in Fabry disease

Brazilian consensus recommendations for the diagnosis and treatment of Fabry disease

Canadian Fabry disease treatment guidelines 2016

Colombian consensus of experts on evidence-based recommendations for the diagnosis and treatment of Fabry disease

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Diagnosing Fabry Disease: Practical Clinical Recommendations and Guidance for Patients with Fabry Disease

European expert consensus statement on therapeutic goals in Fabry disease

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Fabry disease revisited: Management and treatment recommendations for adult patients

Fabry Disease: Developing Drugs for Treatment Guidance for Industry

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

Management of pain in Fabry disease in the UK clinical setting: a modified Delphi consensus

Recommendations for initiation and cessation of enzyme replacement therapy in Fabry disease: a European consensus document

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Spanish multidisciplinary clinical practice guidelines for Anderson-Fabry disease in adults

The management and treatment of children with Fabry disease: A United States-based perspective