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Medicina (B Aires) 2021 ;81(2):173-179

Departamento de Cardiología, Hospital Británico, Buenos Aires, Argentina.

Cardiovascular mortality (CVM) has become the major contributor to overall Fabry disease (FD) mortality in the enzyme replacement therapy (ERT) era. Our objectives were to describe causes and potential predictors of mortality in FD adult patients in Argentina, and to assess risk of major adverse cardiovascular events (MACE) in the ERT era. We retrospectively studied 93 consecutive patients treated with alphagalactosidase A (median follow up: 9. Read More

Med Hypotheses 2020 Nov 17;144:110282. Epub 2020 Sep 17.

Neurology Service Hospital Britanico de Buenos Aires, Argentina.

Stroke is a severe and frequent complication of Fabry disease (FD), affecting both males and females. Cerebrovascular complications are the end result of multiple and complex pathophysiology mechanisms involving endothelial dysfunction and activation, development of chronic inflammatory cascades leading to a prothrombotic state in addition to cardioembolic stroke due to cardiomyopathy and arrhythmias. The recent coronavirus disease 2019 outbreak share many overlapping deleterious pathogenic mechanisms with those of FD and therefore we analyze the available information regarding the pathophysiology mechanisms of both disorders and hypothesize that there is a markedly increased risk of ischemic and hemorrhagic cerebrovascular complications in Fabry patients suffering from concomitant SARS-CoV-2 infections. Read More

Biomed Pharmacother 2020 Nov 23;131:110779. Epub 2020 Sep 23.

Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

Fabry disease (FD) is an X-linked disorder caused by mutations in GLA gene responsible for coding of the lysosomal enzyme alpha-galactosidase A(α-GAL). The resultant accumulation of globotriaosylceramide (Gb-3) leads to multisystemic disease including progressive chronic kidney disease, hypertrophic cardiomyopathy, stroke, angiokeratomas and corneal whorls. Current treatments include enzyme replacement therapy (ERT), along with recent advent of chaperone therapy. Read More

Brain 2020 12;143(11):3331-3342

Stroke Research Centre, Department of Brain Repair and Rehabilitation, UCL Queen Square Institute of Neurology, London WC1B 5EH, UK.

Cerebral white matter pathology is a common CNS manifestation of Fabry disease, visualized as white matter hyperintensities on MRI in 42-81% of patients. Diffusion tensor imaging (DTI) MRI is a sensitive technique to quantify microstructural damage within the white matter with potential value as a disease biomarker. We evaluated the pattern of DTI abnormalities in Fabry disease, and their correlations with cognitive impairment, mood, anxiety, disease severity and plasma lyso-Gb3 levels in 31 patients with genetically proven Fabry disease and 19 age-matched healthy control subjects. Read More

J Stroke Cerebrovasc Dis 2020 Dec 20;29(12):105398. Epub 2020 Oct 20.

Medical Genetics Institute, ZOHAR PGD Unit, Shaare Zedek Medical Center and Hebrew University Faculty of Medicine, Jerusalem, Israel. Electronic address:

Introduction: The prevalence of Fabry Disease (FD) with cerebrovascular complications varies in different populations. The aim of this study was to estimate the presence of FD among young stroke patients in northern Israel.

Patients And Methods: We performed a retro-/prospective search for FD in young patients (aged ≤50 years old) admitted to the Department of Neurology due to acute ischemic stroke of any etiology. Read More

J Neurol 2021 Mar 19;268(3):872-878. Epub 2020 Oct 19.

Stroke Research Centre, Department of Brain Repair and Rehabilitation, Institute of Neurology, Russell Square House, London, UK.

Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder resulting in vascular glycosphingolipid accumulation and increased stroke risk. MRI findings associated with FD include white matter hyperintensities (WMH) and cerebral microbleeds (CMBs), suggesting the presence of cerebral small vessel disease. MRI-visible perivascular spaces (PVS) are another promising marker of small vessel disease associated with impaired interstitial fluid drainage. Read More

High Blood Press Cardiovasc Prev 2020 Dec 12;27(6):539-546. Epub 2020 Oct 12.

Division of Internal Medicine and Nephrology, Department of Life, Health and Environmental Sciences, San Salvatore Hospital, University of L'Aquila, San Salvatore Hospital, Building Delta 6, L'Aquila, Italy.

Fabry disease is a progressive, X-linked inherited lysosomal storage disorder where accumulation of glycosphingolipids increases the risk for early cardiovascular complications, including heart failure, stroke, and end stage renal disease. Besides disease-specific therapy, blood pressure (BP) control is of central importance in Fabry disease to reduce disease progression and improve prognosis. Both Fabry disease and hypertension are characterized by the activation of the innate component of the immune system, with Toll-like receptor 4 (TLR4) as a common trigger to the inflammatory cascade. Read More

BMJ Open 2020 10 10;10(10):e035182. Epub 2020 Oct 10.

Division of Nephrology, Belcolle Hospital, Viterbo, Italy.

Objectives: The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatment initiation.

Design And Setting: Anonymous feedback from panellists via online questionnaires was analysed using a modified Delphi consensus technique. Questionnaires and data were managed by an independent administrator directed by two non-voting cochairs. Read More

Cureus 2020 Jul 27;12(7):e9415. Epub 2020 Jul 27.

Research Center, King Fahad Medical City, Riyadh, SAU.

Introduction Fabry disease is a metabolic storage disorder that causes disorders in multiple organs including the brain. Data regarding the prevalence of the disease among the Saudi stroke population is scarce. Hence, tests for the same are not conducted on a regular basis when investigating stroke of uncertain cause. Read More

Neurology 2020 11 14;95(19):e2711-e2713. Epub 2020 Aug 14.

From the Second Department of Neurology (A.T., L.P., M.P., C.Z., C.A., A.B., G.T.), National and Kapodistrian University of Athens, School of Medicine, "Attikon" University Hospital; Laboratory of Clinical Neurophysiology (P.K.), First Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, "Aiginiteion" University Hospital; Department of Physiotherapy (M.P.), University of West Attica; Ophthalmological Center "Voudouri Adamantia" (S.F., A.V.), Athens; and Department of Interventional Neuroradiology (G.M.), Metropolitan Hospital, Piraeus, Greece.

Arch Cardiovasc Dis 2020 Aug - Sep;113(8-9):542-550. Epub 2020 Aug 6.

Department of Cardiology, Caen University Hospital, 14000 Caen, France; EA 4650 (Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique), Medical School, Caen-Normandie University (UNICAEN), Caen University Hospital, 14000 Caen, France. Electronic address:

Background: Screening for Fabry disease is sub-optimal in non-specialised centres.

Aim: To assess the diagnostic value of electrocardiographic scores of left ventricular hypertrophy and a combined electrocardiographic and echocardiographic model in Fabry disease.

Methods: We retrospectively reviewed the electrocardiograms and echocardiograms of 61 patients (mean age 55. Read More

Am J Med Sci 2020 12 10;360(6):641-649. Epub 2020 Jul 10.

Department of Internal Medicine, Hopital Joseph Ducuing, Toulouse, France; Competence Center for Lysosomal Storage Diseases, Hopital Joseph Ducuing, Toulouse, France.

Fabry disease is a frequent lysosomal storage disorder secondary to the deficiency of alpha-galactosidase A enzyme. This X-linked genetic disease realizes progressive and systemic manifestations that affect both male and female. Fabry disease may present as "classical", as "late-onset" or "non-classical" forms. Read More

Rev Cardiovasc Med 2020 Jun;21(2):181-190

Infiltrative Cardiac Disease Program, Division of Cardiology, Rush University Medical Center, Chicago, IL 60612, USA.

Heart failure with preserved ejection fraction is a very common clinical problem. Its prevalence is increasing with aging of the population. A diverse group of risk factors and etiologies comprise the HFpEF syndrome. Read More

J Clin Neurol 2020 Jul;16(3):505-506

Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

Ther Clin Risk Manag 2020 22;16:551-558. Epub 2020 Jun 22.

Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (), leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs including heart, kidney, the eyes, vascular endothelium, the nervous system and the skin. Cardiac involvement is leading to fatal complications and reduced life expectancy. FD is treatable with disease-specific treatment (enzyme replacement therapy (ERT) or with chaperone therapy). Read More

PLoS One 2020 22;15(5):e0233460. Epub 2020 May 22.

Internal Medicine Department, Reference Center for Lysosomal Storage Disorders, Groupe Hospitalier Diaconesses Croix Saint-Simon, Paris, France.

Backgroud: Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry disease has historically been characterized by progressive renal failure, early stroke and hypertrophic cardiomyopathy, with a diminished life expectancy. Read More

BMC Neurol 2020 May 12;20(1):180. Epub 2020 May 12.

Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, 610041, China.

Background: The etiologic determinants of cryptogenic stroke remain a diagnostic challenge in clinical practice. Fabry disease (FD) is one of the monogenic causes of stroke that may remain unrecognized as a potential contributing causative factor, because of its rarity and difficulty in diagnosis. We report a case with rare bilateral medial medullary infarction manifesting as "heart appearance" who was diagnosed with FD. Read More

Int J Cardiovasc Imaging 2020 Jul 8;36(7):1333-1342. Epub 2020 May 8.

Bordeaux University Hospital, 33000, Bordeaux, France.

In Anderson-Fabry disease (FD), we sought to evaluate relation between left ventricular (LV) hypertrophy, longitudinal strain (LS), myocardial T1 mapping and cardiopulmonary exercise parameters, and their prognostic value in term of cardiovascular outcomes. In this prospective, observational, monocentric study called "FABRY-Image", we evaluated consecutive adult FD patients by echocardiography, cardiac magnetic resonance, and cardiopulmonary exercise testing. We investigated regional LS, the relations between LV hypertrophy, LS, T1 mapping, and VO2 peak and VE/VCO2, and the prediction of cardiovascular events during follow-up. Read More

Clin Nephrol 2020 Jun;93(6):294-299

Fabry disease is an X-linked lysosomal storage disease characterized by alpha-galactosidase A (α-Gal A) enzyme deficiency. It can present with a variety of clinical manifestations ranging from complaints of extremity numbness and tingling to end-stage renal disease, cardiovascular disease, or stroke. Although it causes proteinuria and chronic kidney disease, it is often not included in the differential diagnosis of a young adult who presents with proteinuria. Read More

Curr Pharm Des 2020 ;26(40):5089-5099

U.O.C di Medicina Interna con Stroke Care, Dipartimento di Promozione della Salute, Materno Infantile, Medicina Interna e Specialistica di Eccellenza "G. D'Alessandro" (PROMISE), University of Palermo, Piazza delle Cliniche n.2, 90127 Palermo, Italy.

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Read More

J Clin Med 2020 Mar 4;9(3). Epub 2020 Mar 4.

Biochemistry and Molecular Genetic Department, CHU Clermont-Ferrand, Faculty of Medicine, Université Clermont-Auvergne, CNRS 6293, INSERM 1103, GReD, 63000 Clermont-Ferrand, France.

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010-2017. Read More

Mol Genet Metab Rep 2020 Mar 15;22:100565. Epub 2020 Feb 15.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.

Background: The common gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Read More

Orphanet J Rare Dis 2020 01 28;15(1):28. Epub 2020 Jan 28.

Department of Endocrinology and Metabolism, Amsterdam UMC, location AMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.

Background: Despite the high prevalence of depressive symptoms in Fabry disease (FD), it is unclear which patient characteristics are important in relation to these symptoms. Additionally, the impact of coping styles in relation to depressive symptoms in FD has been unexplored. Determining the impact of different factors relating to depressive symptoms in FD can guide both prevention and treatment of these symptoms. Read More

Nutrition 2020 04 29;72:110664. Epub 2019 Nov 29.

Department of Medicine (DIMED), Nephrology, Dialysis and Transplantation Unit, University of Padova, Italy. Electronic address:

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of enzyme α-galactosidase A activity. Clinical manifestation varies from mild to severe depending on the phenotype. The main clinical manifestations are cutaneous (angiokeratomas), neurologic (acroparesthesias), gastrointestinal (nausea, diarrhea, and abdominal pain), renal (proteinuria and kidney failure), cardiovascular (cardiomyopathy and arrhythmias), and cerebrovascular (stroke). Read More

Orphanet J Rare Dis 2020 01 13;15(1):10. Epub 2020 Jan 13.

Department of Nephrology, Royal Perth Hospital, GPO Box X2213, Perth, WA, 6847, Australia.

Aim: To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.

Background: FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neuropathy, rash, progressive kidney disease, hypertrophic cardiomyopathy and ischaemic stroke. Read More

Acta Neurol Taiwan 2019 Jun;28(2):52-56

Department of Neurology, Pathology and Nephrology, Mennonite Christian Hospital, Hualien, Taiwan.

Although it is known that Fabry disease should be included in the differential diagnosis of young stroke and fever of unknown origin, it has not been reported in the literature of stroke with fever as the presentation of Fabry disease. This is relevant because stroke with fever may misguide the differential diagnosis. Here we present a young stroke patient with fever. Read More

Cardiology 2019;144(3-4):125-130. Epub 2019 Oct 21.

Cardiology Department, Centro Hospitalar e Universitário do Algarve, Faro, Portugal.

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e. Read More

Mol Genet Metab 2020 02 24;129(2):150-160. Epub 2019 Jul 24.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal; ICVS/3Bs PT Government Associate Laboratory, Braga/Guimarães, Portugal.

Background: Knowledge on clinical profiles of late-onset phenotypes of Fabry disease (FD) is essential to better define their natural history. Our study aims to demonstrate a founder effect of FD due to the GLA gene mutation c.337T>C (p. Read More

Neurologist 2019 Sep;24(5):146-149

Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine, "Attikon" University Hospital, Athens, Greece.

Introduction: Fabry is a rare X-linked recessive genetic disease caused by α-galactosidase A deficiency. Cerebrovascular events occur in ∼13% of patients, whereas stroke may be the presenting clinical manifestation. There are very limited case reports of tissue plasminogen activator administration for acute ischemic stroke in patients with Fabry disease. Read More