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Eur Heart J Cardiovasc Pharmacother 2022 May;8(3):213-215

Curr Med Sci 2022 Apr 13;42(2):274-279. Epub 2022 Apr 13.

Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005, China.

Objective: Fabry disease (FD) is an X-linked lysosomal storage disease caused by the mutation in the α-galactosidase A gene that leads to a consequently decreased α-galactosidase A enzyme activity and a series of clinical presentations. However, FD accompanied with aseptic meningitis can be relatively scarce and rarely reported, which leads to significant clinical misdiagnosis of this disease.

Methods: Sixteen patients diagnosed with FD based on a decreased activity of α-galactosidase A enzyme and/or genetic screening were identified through a 6-year retrospective chart review of a tertiary hospital. Read More

J Clin Med 2022 Feb 24;11(5). Epub 2022 Feb 24.

Center of Research in Myology, UMRS 974, Association Institut de Myologie, INSERM, Sorbonne Université, 75013 Paris, France.

Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathic pain, progressive renal failure, white matter lesions, cerebral stroke, and hypertrophic cardiomyopathy (HCM), the non-classic phenotype, also known as cardiac variant, is almost exclusively characterized by HCM. Circulating sphingosine-1-phosphate (S1P) has controversially been associated with the Fabry cardiomyopathy. Read More

Adv Clin Exp Med 2022 Feb;31(2):175-185

Department of Bone Marrow Transplantation, Hematology and Transplantology Clinic, Tomasz Sokolowski Public Hospital, Pomeranian Medical University in Szczecin, Poland.

A substantial increase in the interest in transthyretin cardiac amyloidosis (ATTR-CA) is a result of the constantly growing number of patients, the use of clear diagnostic protocols and the availability of the first selective drug for these patients. This has also raised the awareness of the disease among physicians of all specialties. The topic is particularly relevant to cardiologists, who use non-invasive multimodal imaging in their daily practice. Read More

Mol Genet Metab 2022 01 23;135(1):3-14. Epub 2021 Dec 23.

Child Neurology and Psychiatry Unit - Department of Human Neuroscience-Sapienza, Università di Roma, Italy. Electronic address:

Inborn errors of metabolism causing stroke (ischemic or haemorrhagic) or stroke-like episodes (e.g., that are also called "metabolic strokes" and include acute brain lesions not related with alterations of blood flow) cover a wide range of diseases in which acute metabolic decompensations after trigger events (e. Read More

J Inherit Metab Dis 2022 Jan 7. Epub 2022 Jan 7.

Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, London, UK.

Fabry disease (FD) is an X-linked lysosomal storage disorder with multi-system involvement including cerebrovascular disease. Patients with FD also have a high risk of ischaemic stroke and TIA. White matter hyperintensities are common, but their clinical impact on cognition remains uncertain. Read More

Genes (Basel) 2021 11 23;12(12). Epub 2021 Nov 23.

Department of Neurology, Wroclaw Medical University, 50-556 Wroclaw, Poland.

Strokes are the main cause of death and long-term disability worldwide. A stroke is a heterogeneous multi-factorial condition, caused by a combination of environmental and genetic factors. Monogenic disorders account for about 1% to 5% of all stroke cases. Read More

PLoS One 2021 14;16(12):e0260601. Epub 2021 Dec 14.

International Clinical Research Center and Department of Neurology, St. Anne's University Hospital and Medical Faculty of Masaryk University, Brno, Czech Republic.

Background And Aims: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by disease-associated variants in the alpha-galactosidase A gene (GLA). FD is a known cause of stroke in younger patients. There are limited data on prevalence of FD and stroke risk in unselected stroke patients. Read More

Neurocase 2021 12 22;27(6):462-466. Epub 2021 Nov 22.

Klinik für Neurologie, Klinikum Traunstein, Traunstein, Germany.

Fabry's disease is a X-linked inherited multisystem disorder with deficient activity of the lysosomal enzyme α-galactosidase which neuropsychiatric manifestations comprise mainly small fiber neuropathy, cerebral microangiopathy, and depression. This report describes a patient in who psychotic symptoms were associated with a thalamic ischemic stroke and the first manifestation of Fabry's disease. Reviewing the current literature and the hitherto reported cases of psychosis in Fabry's disease, the inclusion of psychiatric exploration and screening in the routine examination of patients with Fabry's disease as well as a brain MRI on initial diagnosis of Fabry's disease should be considered. Read More

Rom J Morphol Embryol 2021 Jan-Mar;62(1):5-11

Department of Nephrology, University of Medicine and Pharmacy of Craiova, Romania;

Fabry disease represents an X-linked inherited disorder resulting in the accumulation of globotriaosylceramide (Gb3). This review explains the clinical manifestations and the possible therapies for this condition. Fabry disease is considered the second most frequent lysosomal storage disease. Read More

Int J Mol Sci 2021 Sep 18;22(18). Epub 2021 Sep 18.

Internal Medicine and Stroke Care Ward, Department of Promoting Health, Maternal-Infant Excellence and Internal and Specialized Medicine (ProMISE) G. D'Alessandro, University of Palermo (Italy), Piazza delle Cliniche n.2, 90127 Palermo, Italy.

Anderson-Fabry disease (AFD) is a rare disease with an incidenceof approximately 1:117,000 male births. Lysosomal accumulation of globotriaosylceramide (Gb3) is the element characterizing Fabry disease due to a hereditary deficiency α-galactosidase A (GLA) enzyme. The accumulation of Gb3 causes lysosomal dysfunction that compromises cell signaling pathways. Read More

J Clin Med 2021 Aug 12;10(16). Epub 2021 Aug 12.

Department of Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital in Prague, 150 06 Prague, Czech Republic.

Fabry disease (FD) is a rare X-linked disorder of glycosphingolipid metabolism caused by pathogenic variants within the alpha-galactosidase A (GLA) gene, often leading to neurological manifestations including stroke. Multiple screening programs seeking GLA variants among stroke survivors lacked detailed phenotype description, making the interpretation of the detected variant's pathogenicity difficult. Here, we describe detailed clinical characteristics of GLA variant carriers identified by a nationwide stroke screening program in the Czech Republic. Read More

Br J Radiol 2021 Aug 8;94(1124):20210020. Epub 2021 Jul 8.

Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), Cagliari, Italy.

Anderson-Fabry (FD) disease is a rare X-linked disorder caused by different mutations in the Galactosidase α (GLA) gene, which leads to α-galactosidase A enzyme deficiency and the storage of glycosphingolipids in different kinds of organs, included the heart. This results in myocardial inflammation and left ventricular hypertrophy (LVH) and fibrosis. Echocardiography and cardiac magnetic resonance (C-MRI), in particular with new techniques, such as mapping analysis, late gadolinium enhancement (LGE) assessment and strain imaging, are important tools that allow a correct diagnosis, discriminating FD from other hypertrophic heart conditions. Read More

Neurologist 2021 Jul 6;26(4):125-131. Epub 2021 Jul 6.

Department of Neurology, Trakya University Faculty of Medicine, Edirne, Turkey.

Background: We sought to determine the incidence of Fabry disease (FD) in young cryptogenic stroke patients who lived in the City of Edirne, Turkey, and to define the clinical features helping to recognize patients with FD.

Methods: Acute ischemic stroke patients aged 18 to 55 years who were admitted to our hospital between January 2017 and September 2019 were evaluated for inclusion. The screening was performed for α-galactosidase A activity on dried blood spot, and DNA was sequenced for GLA mutation in patients with low-plasma α-galactosidase A activity. Read More

Clin Res Cardiol 2021 11 7;110(11):1847-1849. Epub 2021 May 7.

Department of Interventional Cardiology and Angiology, Cardinal Wyszynski National Institute of Cardiology, Alpejska 42, 04-628, Warsaw, Poland.

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

Mol Genet Genomic Med 2021 05 9;9(5):e1666. Epub 2021 Apr 9.

Research Centre for Medical Genetics, Moscow, Russia.

Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Read More

Neurobiol Aging 2021 06 2;102:220.e1-220.e4. Epub 2021 Feb 2.

Department of Neurology, Peking University Third Hospital, Beijing, China; Beijing Key Laboratory of Biomarker and Translational Research in Neurodegenerative Disorders, Beijing, China; Key Laboratory for Neuroscience, National Health Commission/Ministry of Education, Peking University, Beijing, China. Electronic address:

Fabry disease (FD) is an important underlying condition in young cryptogenic stroke patients and has also been implicated in cerebral small vessel disease. However, the contributions of causative GLA mutations in patients with intracerebral hemorrhage (ICH) remain unclear. In this study, GLA sequences were analyzed in a Chinese ICH cohort comprising 373 patients with computed tomography-confirmed ICH and 563 in-house controls and East Asians from public databases. Read More

Turk Kardiyol Dern Ars 2020 12;48(Suppl 2):1-42

Fabry disease is a rare, progressive, X-linked inherited storage disorder due to absent or deficient of lysosomal alfa galactosidase A activity. Deficient activity of alfa-galactosidase A results in progressive accumulation of globotriaosylceramide in a variety of tissues and organs including myocardium, kidney and nerve system. This disorder predominantly affects males; however, female heterozygotes may also be affected with a less severe clinical picture. Read More

Intern Med 2021 Jun 15;60(12):1819-1826. Epub 2021 Jan 15.

Division of Cardiology, Nephrology, Pulmonology, and Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.

Objective Fabry disease (FD) is a hereditary lysosomal storage disease that has been highlighted as a possible etiology of stroke at a young age and presents with other various neurological symptoms. Since FD is rare, limited information is currently available on the prevalence of neurological symptoms in Japanese patients with FD. Therefore, we examined the characteristics of neurological symptoms and brain magnetic resonance imaging (MRI) findings in adult Japanese patients with FD. Read More

Front Immunol 2020 14;11:595514. Epub 2020 Dec 14.

Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.

Background: While cerebral lesions are common in Fabry disease (FD), spinal lesions have not been described, and their presence was suggested to be indicative of multiple sclerosis. Here, we present a FD patient with histopathological confirmed spinal ischemic stroke.

Case Presentation: A patient with genetically and biochemically diagnosed FD and characteristic manifestations (acroparesthesia, angiokeratomas, hypohidrosis, microalbuminuria, myocardial hypertrophy) presented with paraplegia, loss of all sensory modalities below Th9, and loss of bowel and bladder function. 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

Rev Med Interne 2021 Feb 7;42(2):110-119. Epub 2020 Nov 7.

Centre de compétence des maladies lysosomales de l'adulte, hôpital Joseph-Ducuing, 31076 Toulouse, France; Service de médecine interne, hôpital Joseph-Ducuing, 31076 Toulouse, France.

Fabry disease is the second most frequent lysosomal storage disorder. It is a X-linked genetic disease secondary to alpha-galactosidase A enzyme deficiency. This is a progressive and systemic disease that affects both males and females. Read More

J Stroke Cerebrovasc Dis 2021 Sep 5;30(9):105423. Epub 2020 Nov 5.

University of California - Irvine Medical Center, 101 The City Drive South, Orange, CA 92868, USA. Electronic address:

Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene leading to a deficiency of the enzyme alpha-galactosidase A (α-Gal A). Multiple organ systems are implicated in Fabry disease, most severely the cardiac, kidney, and central nervous systems. In this brief review, we will focus on the kidney and central nervous system involvement. 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