4.4 Review

An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

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Review Genetics & Heredity

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

Dominique P. Germain et al.

Summary: The study suggests that input from geneticists and physicians with wide expertise in disease phenotypes, inheritance, biomarkers, alleles frequencies, disease-specific databases, and literature significantly contributes to a more accurate interpretation of the pathogenicity of GLA gene variants, adding value over the traditional approach.

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Article Genetics & Heredity

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease

Albina Nowak et al.

Summary: The study found that Lyso-Gb3 levels were significantly associated with adverse outcomes in patients with FD. Adding pretreatment exposure to Lyso-Gb3 improved the accuracy of predicting adverse outcomes in FD patients. Prospective intervention trials are needed to determine whether treatment-related amelioration of Lyso-Gb3 levels will lead to improved long-term outcomes.

JOURNAL OF MEDICAL GENETICS (2022)

Article Cardiac & Cardiovascular Systems

Treatment of Fabry Diseasemanagement with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)

Malte Lenders et al.

Summary: This study evaluated the safety and efficacy of migalastat treatment in patients with Fabry disease. The results showed that treatment with migalastat was generally safe and led to improvement in left ventricular mass in most patients. However, there was a moderate yearly loss of estimated glomerular filtration rate in both females and males, and pain symptoms did not improve with treatment. AGAL activities and plasma lyso-Gb(3) levels remained stable during treatment.

EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY (2022)

Article Cardiac & Cardiovascular Systems

Sodium-Glucose Cotransporter 2 Inhibitors and Risk of Hyperkalemia in People With Type 2 Diabetes: A Meta-Analysis of Individual Participant Data From Randomized, Controlled Trials

Brendon L. Neuen et al.

Summary: SGLT2 inhibitors reduce the risk of serious hyperkalemia in people with type 2 diabetes at high cardiovascular risk or with chronic kidney disease without increasing the risk of hypokalemia.

CIRCULATION (2022)

Article Cardiac & Cardiovascular Systems

Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)

Malte Lenders et al.

Summary: The study showed that treatment with migalastat for patients with Fabry disease (FD) is generally safe and resulted in improvement of left ventricular mass in most patients. Both female and male patients exhibited a moderate yearly loss of estimated glomerular filtration rate after treatment.

EUROPEAN HEART JOURNAL-CARDIOVASCULAR PHARMACOTHERAPY (2022)

Article Genetics & Heredity

Assessment of plasma lyso-Gb3for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Daniel G. Bichet et al.

Summary: The study evaluated the utility of globotriaosylsphingosine (lyso-Gb(3)) as a biomarker for monitoring treatment response in Fabry disease patients receiving migalastat, finding that it may not be suitable for this purpose.

GENETICS IN MEDICINE (2021)

Article Clinical Neurology

MRI-visible perivascular spaces as an imaging biomarker in Fabry disease

D. Lyndon et al.

Summary: The study found that patients with Fabry disease (FD) had more severe MRI-visible perivascular spaces (PVS) compared to controls, higher white matter hyperintensity volume, and more cerebral microbleeds. These findings have potential relevance for the diagnosis of FD and suggest that impaired interstitial fluid drainage might be a mechanism of white matter injury in FD.

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Review Physiology

Effects of SGLT2 Inhibitors on Kidney and Cardiovascular Function

Volker Vallon et al.

Summary: SGLT2 inhibitors protect the kidneys and heart, prevent high and low blood sugar levels, and improve metabolic adaptations, leading to reduced fat mass.

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Chronic kidney disease is a key risk factor for severe COVID-19: a call to action by the ERA-EDTA

Alberto Ortiz et al.

Summary: Diabetes, hypertension, and cardiovascular disease have been traditionally considered risk factors for severe COVID-19, but recent studies have found that renal disease, especially dialysis, organ transplantation, and CKD, play a significant role in the mortality risk associated with COVID-19.

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Chloroquine may induce endothelial injury through lysosomal dysfunction and oxidative stress

PauloC Gregorio et al.

Summary: COVID-19 pandemic continues with limited antiviral agents available. Chloroquine, despite showing in vitro antiviral activity, had disappointing results in clinical trials and may harm outcomes. The adverse effects of chloroquine on endothelial cells were mitigated by agalsidase-beta treatment, suggesting a potential role of endothelial cell injury in the failure of chloroquine therapy for COVID-19.

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Review Cardiac & Cardiovascular Systems

Cardiac Involvement in Fabry Disease JACC Review Topic of the Week

Maurizio Pieroni et al.

Summary: Fabry disease is a rare genetic disorder that can lead to cardiovascular complications, including left ventricular hypertrophy, myocardial fibrosis, heart failure, and arrhythmias. Early diagnosis and treatment are essential for slowing disease progression and preventing cardiac complications.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2021)

Article Immunology

Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens

Lavinia Bernea et al.

Summary: The urgent need to combat the COVID-19 pandemic has pushed forward vaccine development and approval processes, with challenges emerging from new strains of the virus. Some immunocompromised patients may require booster shots to enhance vaccination success rates due to reduced efficacy after initial doses.

VACCINES (2021)

Review Environmental Sciences

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review

Fabio Caputo et al.

Summary: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder with a wide array of clinical manifestations, including gastrointestinal symptoms that often overlap with other conditions, delaying diagnosis in many patients. This narrative review aims to raise awareness among healthcare professionals about the GI manifestations of FD and highlight the latest findings, including diagnostic tools and therapies. Preliminary data on a patient with GI symptoms who was found to have a variant of uncertain significance of the alpha-galactosidase (GLA) gene will also be discussed.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)

Review Genetics & Heredity

The benefits and challenges of family genetic testing in rare genetic diseases - lessons from Fabry disease

Dominique P. Germain et al.

Summary: Family genetic testing is crucial for early diagnosis of patients with rare genetic diseases, but faces challenges in some countries due to barriers such as costs, awareness, and cultural factors.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Review Cardiac & Cardiovascular Systems

Contemporary therapeutics and new drug developments for treatment of Fabry disease: a narrative review

Daniel Oder et al.

Summary: Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A, leading to accumulation of globotriaosylceramides. Organ manifestations of the heart, kidneys, and nervous system are of prognostic value and can lead to various complications. Therapeutic options currently available include enzyme replacement agents and oral chaperone therapy.

CARDIOVASCULAR DIAGNOSIS AND THERAPY (2021)

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Recognition of pre-hypertrophic cardiac involvement in Fabry Disease based on automated electrocardiographic measures

Mehdi Namdar et al.

Summary: Automated ECG measures can be useful in discriminating between Fabry Disease patients and healthy individuals. The study identified 9 ECG parameters crucial for detecting cardiac involvement in FD patients, with the combined discriminant score showing high sensitivity and specificity.

INTERNATIONAL JOURNAL OF CARDIOLOGY (2021)

Review Urology & Nephrology

Renal Manifestations of Fabry Disease: A Narrative Review

Cassiano Augusto Braga Silva et al.

Summary: This narrative review provides an overview of Fabry disease (FD) nephropathy, highlighting the importance of early detection of renal disorders for timely treatment and better prognosis. The review also emphasizes the role of podocytes in the pathogenesis of this nephropathy, as well as the challenges in specific treatment of FD due to delayed diagnosis.

CANADIAN JOURNAL OF KIDNEY HEALTH AND DISEASE (2021)

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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Albina Nowak et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2020)

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Myocardial Edema, Myocyte Injury, and Disease Severity in Fabry Disease

Joao B. Augusto et al.

CIRCULATION-CARDIOVASCULAR IMAGING (2020)

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Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

Malte Lenders et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2020)

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Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease

Yumi Aoyama et al.

INTERNAL MEDICINE (2020)

Article Clinical Neurology

Determinants of cerebral radiological progression in Fabry disease

Simon Korver et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2020)

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An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Ales Linhart et al.

EUROPEAN JOURNAL OF HEART FAILURE (2020)

Review Health Care Sciences & Services

Diagnosis and Screening of Patients with Fabry Disease

Irfan Vardarli et al.

THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2020)

Editorial Material Endocrinology & Metabolism

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Juan Politei

MOLECULAR GENETICS AND METABOLISM (2020)

Review Medicine, Research & Experimental

In Vitro and In Vivo Amenability to Migalastat in Fabry Disease

Malte Lenders et al.

MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2020)

Review Biochemistry & Molecular Biology

Biomarkers in Anderson-Fabry Disease

Irene Simonetta et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

Editorial Material Endocrinology & Metabolism

Therapeutic goals in Fabry disease: Recommendations of a European expert panel, based on current clinical evidence with enzyme replacement therapy

Christoph Wanner et al.

MOLECULAR GENETICS AND METABOLISM (2019)

Article Cardiac & Cardiovascular Systems

Proposed Stages of Myocardial Phenotype Development in Fabry Disease

Sabrina Nordin et al.

JACC-CARDIOVASCULAR IMAGING (2019)

Review Cardiac & Cardiovascular Systems

Fabry disease in cardiology practice: Literature review and expert point of view

Albert Hagege et al.

ARCHIVES OF CARDIOVASCULAR DISEASES (2019)

Review Cardiac & Cardiovascular Systems

Role of cardiac imaging in Anderson-Fabry cardiomyopathy

Walter Serra et al.

CARDIOVASCULAR ULTRASOUND (2019)

Article Cardiac & Cardiovascular Systems

Predictors of Clinical Evolution in Prehypertrophic Fabry Disease

Antonia Camporeale et al.

CIRCULATION-CARDIOVASCULAR IMAGING (2019)

Article Genetics & Heredity

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

Malte Lenders et al.

JOURNAL OF MEDICAL GENETICS (2019)

Article Cardiac & Cardiovascular Systems

Quantitative Myocardial Perfusion in Fabry Disease

Kristopher D. Knott et al.

CIRCULATION-CARDIOVASCULAR IMAGING (2019)

Review Genetics & Heredity

Why systematic literature reviews in Fabry disease should include all published evidence

Perry M. Elliott et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Article Multidisciplinary Sciences

Lyso-Gb3 modulates the gut microbiota and decreases butyrate production

John-Jairo Aguilera-Correa et al.

SCIENTIFIC REPORTS (2019)

Article Pharmacology & Pharmacy

Oral Chaperone Therapy Migalastat for Treating Fabry Disease: Enzymatic Response and Serum Biomarker Changes After 1 Year

Onas Muentze et al.

CLINICAL PHARMACOLOGY & THERAPEUTICS (2019)

Article Cardiac & Cardiovascular Systems

Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease

Ravi Vijapurapu et al.

Article Urology & Nephrology

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases

Renzo Mignani et al.

CLINICAL KIDNEY JOURNAL (2019)

Review Urology & Nephrology

Early Biomarkers of Fabry Nephropathy: A Review of the Literature

Eleonora Riccio et al.

NEPHRON (2019)

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Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages

Johannes Kraemer et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2018)

Article Cardiac & Cardiovascular Systems

Cardiac Phenotype of Prehypertrophic Fabry Disease

Sabrina Nordin et al.

CIRCULATION-CARDIOVASCULAR IMAGING (2018)

Review Biochemistry & Molecular Biology

Biomarkers for Diagnosing and Staging of Fabry Disease

Johannes Kraemer et al.

CURRENT MEDICINAL CHEMISTRY (2018)

Article Genetics & Heredity

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study

Maarten Arends et al.

JOURNAL OF MEDICAL GENETICS (2018)

Review Endocrinology & Metabolism

Fabry disease revisited: Management and treatment recommendations for adult patients

Alberto Ortiz et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Review Endocrinology & Metabolism

European expert consensus statement on therapeutic goals in Fabry disease

Christoph Wanner et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Review Urology & Nephrology

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease

Malte Lenders et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2018)

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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

Elfrida R. Benjamin et al.

GENETICS IN MEDICINE (2017)

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Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

Albina Nowak et al.

MOLECULAR GENETICS AND METABOLISM (2017)

Article Cardiac & Cardiovascular Systems

La variante p.Arg118Cys en el gen GLA no causa enfermedad de Fabry. Más evidencias

Cayetana Barbeito-Caamaño et al.

REVISTA ESPANOLA DE CARDIOLOGIA (2017)

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Efficacy and safety of enzyme-replacement-therapy with agalsidase alfa in 36 treatment-naive Fabry disease patients

Kazuya Tsuboi et al.

BMC PHARMACOLOGY & TOXICOLOGY (2017)

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Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

Rannveig Skrunes et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)

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Basilar Artery Changes in Fabry Disease

R. Manara et al.

AMERICAN JOURNAL OF NEURORADIOLOGY (2017)

Article Genetics & Heredity

X-chromosome inactivation in female patients with Fabry disease

L. Echevarria et al.

CLINICAL GENETICS (2016)

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Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up

Malte Lenders et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)

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Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease

Malte Lenders et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)

Article Cardiac & Cardiovascular Systems

Usefulness of an Implantable Loop Recorder to Detect Clinically Relevant Arrhythmias in Patients With Advanced Fabry Cardiomyopathy

Frank Weidemann et al.

AMERICAN JOURNAL OF CARDIOLOGY (2016)

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SGLT2 Inhibitors and the Diabetic Kidney

Paola Fioretto et al.

DIABETES CARE (2016)

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Determinants of white matter hyperintensity burden in patients with Fabry disease

Natalia S. Rost et al.

NEUROLOGY (2016)

Article Medicine, General & Internal

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

D. P. Germain et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

Article Cardiac & Cardiovascular Systems

High-Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

Nora Seydelmann et al.

JOURNAL OF THE AMERICAN HEART ASSOCIATION (2016)

Review Cardiac & Cardiovascular Systems

Electrocardiographic Changes and Arrhythmia in Fabry Disease

Mehdi Namdar

FRONTIERS IN CARDIOVASCULAR MEDICINE (2016)

Article Genetics & Heredity

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

Bouwien E. Smid et al.

JOURNAL OF MEDICAL GENETICS (2015)

Review Clinical Neurology

Cerebrovascular Involvement in Fabry Disease Current Status of Knowledge

Edwin Kolodny et al.

STROKE (2015)

Article Urology & Nephrology

Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction Versus Treatment Switch

Frank Weidemann et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2014)

Article Endocrinology & Metabolism

Outcomes of patients treated through the Canadian Fabry disease initiative

S. M. Sirrs et al.

MOLECULAR GENETICS AND METABOLISM (2014)

Article Multidisciplinary Sciences

Continuous Cardiac Troponin I Release in Fabry Disease

Andreas Feustel et al.

PLOS ONE (2014)

Review Urology & Nephrology

Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?

Stephen Waldek et al.

BMC NEPHROLOGY (2014)

Review Pediatrics

Renal complications of Fabry disease in children

Behzad Najafian et al.

PEDIATRIC NEPHROLOGY (2013)

Article Endocrinology & Metabolism

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

William R. Wilcox et al.

MOLECULAR GENETICS AND METABOLISM (2012)

Article Endocrinology & Metabolism

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group

Andreas Gal et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Article Cardiac & Cardiovascular Systems

Differences in Fabry Cardiomyopathy Between Female and Male Patients Consequences for Diagnostic Assessment

Markus Niemann et al.

JACC-CARDIOVASCULAR IMAGING (2011)

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End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry

Alberto Ortiz et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2010)

Review Genetics & Heredity

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Dominique P. Germain

ORPHANET JOURNAL OF RARE DISEASES (2010)

Article Pharmacology & Pharmacy

Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies

Chloe Tesmoingt et al.

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY (2009)

Review Medical Laboratory Technology

How should proteinuria be detected and measured?

Edmund J. Lamb et al.

ANNALS OF CLINICAL BIOCHEMISTRY (2009)

Review Urology & Nephrology

Renal manifestations in Fabry disease and therapeutic options

Roser Torra

KIDNEY INTERNATIONAL (2008)

Article Endocrinology & Metabolism

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox et al.

MOLECULAR GENETICS AND METABOLISM (2008)

Article Endocrinology & Metabolism

Natural history of the respiratory involvement in Anderson-Fabry disease

S. Magage et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Urology & Nephrology

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing

Raphael Schiffmann et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)

Article Medicine, General & Internal

Agalsidase-beta therapy for advanced Fabry disease - A randomized trial

Maryam Banikazemi et al.

ANNALS OF INTERNAL MEDICINE (2007)

Review Genetics & Heredity

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

Christine M. Eng et al.

GENETICS IN MEDICINE (2006)

Article Medical Laboratory Technology

Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes

M Fuller et al.

CLINICAL CHEMISTRY (2005)

Article Urology & Nephrology

Enzyme therapy for Fabry disease: Neutralizing antibodies toward agalsidase alpha and beta

GE Linthorst et al.

KIDNEY INTERNATIONAL (2004)

Article Medicine, General & Internal

Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.

CM Eng et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)

Article Medicine, General & Internal

Enzyme replacement therapy in Fabry disease - A randomized controlled trial

R Schiffmann et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)

Article Medicine, General & Internal

Angiotensin-converting enzyme inhibitor-associated elevations in serum creatinine - Is this a cause for concern?

GL Bakris et al.

ARCHIVES OF INTERNAL MEDICINE (2000)