4,614 results match your criteria Angiokeratoma Corporis Diffusum Fabry Syndrome


First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease.

BMC Med Genet 2020 Jun 26;21(1):137. Epub 2020 Jun 26.

AP-HM, Centre de Néphrologie et Transplantation Rénale, CHU de la Conception, AP-HM, Marseille, France.

Background: Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be addressed, especially in patients with mild phenotypes.

Case Presentation: The patient, a 37-year-old female, presented with a persistent proteinuria after an otherwise uncomplicated first pregnancy. Read More

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http://dx.doi.org/10.1186/s12881-020-01071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7320597PMC

Fabry disease due to G171S mutation: An atypical small nerve fiber sparing variant?

Eur J Ophthalmol 2020 Jun 25:1120672120939496. Epub 2020 Jun 25.

Department of Surgical, Medical, Molecular Pathology and of Critical Area, University of Pisa, Pisa, Italy.

Introduction: To describe the ocular manifestations and in vivo confocal microscopic findings in a patient carrying the recently described hemizygous G171S gene mutation.

Case Description: A 63-year-old Albanian male patient was evaluated for cataract surgery. Anamnesis showed pacemaker implantation in left ventricular hypertrophy, chronic kidney disease, family history for kidney transplantation, and late onset of sporadic acroparesthesias. Read More

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http://dx.doi.org/10.1177/1120672120939496DOI Listing

Stratification of Fabry mutations in clinical practice: a closer look at α-galactosidase A-3D structure.

J Intern Med 2020 Jun 24. Epub 2020 Jun 24.

From the, Department of Neurology, University of Würzburg, Würzburg, Germany.

Background: Fabry disease (FD) is an X-linked lysosomal storage and multi-system disorder due to mutations in the α-galactosidase A (α-GalA) gene. We investigated the impact of individual amino acid exchanges in the α-GalA 3D-structure on the clinical phenotype of FD patients.

Patients And Methods: We enrolled 80 adult FD patients with α-GalA missense mutations and stratified them into three groups based on the amino acid exchange location in the α-GalA 3D-structure: patients with active site mutations, buried mutations and other mutations. Read More

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http://dx.doi.org/10.1111/joim.13125DOI Listing

Analysis of Renal and Cardiac Outcomes in Male Participants in the Fabry Outcome Survey Starting Agalsidase Alfa Enzyme Replacement Therapy Before and After 18 Years of Age.

Drug Des Devel Ther 2020 3;14:2149-2158. Epub 2020 Jun 3.

Royal Free London NHS Foundation Trust, London, UK.

Purpose: To determine the impact of initiating enzyme replacement therapy (ERT) with agalsidase alfa early in the course of Fabry disease, we evaluated renal and cardiac outcomes for ≤10 years after ERT initiation in males from the Fabry Outcome Survey (FOS).

Patients And Methods: Male patients from FOS were stratified into three cohorts by age at ERT initiation: ≤18 years (cohort 1), >18 and ≤30 years (cohort 2), and >30 years (cohort 3). Analysis included age at symptom onset, diagnosis, and ERT initiation; ERT duration; FOS-Mainz Severity Score Index (FOS-MSSI); estimated glomerular filtration rate (eGFR); proteinuria level; and left ventricular mass indexed to height (LVMI). Read More

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http://dx.doi.org/10.2147/DDDT.S249433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276893PMC

Porous Silicon Fabry-Pérot Interferometer for N-acetyl-β-D-glucosaminidase biomarker monitoring.

ACS Sens 2020 Jun 23. Epub 2020 Jun 23.

Bovine mastitis (BM) is a prominent inflammatory disease affecting dairy industry worldwide, originated by pathogenic agent invasion onto the mammary gland. Early detection of new BM cases is of high importance for infection control within the herd. Conventional analytical techniques lack the ability to detect BM predicting biomarkers, used as analytical indicators for health status evaluation, in real-time or outside the laboratory boundaries. Read More

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http://dx.doi.org/10.1021/acssensors.0c00348DOI Listing

Pathologic substrate of gastropathy in Anderson-Fabry disease.

Orphanet J Rare Dis 2020 Jun 22;15(1):156. Epub 2020 Jun 22.

Center for Inherited Cardiovascular Diseases, Transplant Research Area, Fondazione IRCCS Policlinico San Matteo, Piazzale Golgi 19, 27100, Pavia, Italy.

In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls. Read More

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http://dx.doi.org/10.1186/s13023-020-01436-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310490PMC

Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease.

Acta Dermatovenerol Alp Pannonica Adriat 2020 Jun;29(2):89-91

Department of Dermatovenereology, Ljubljana University Medical Center, Ljubljana, Slovenia.

Angiokeratomas are the cutaneous hallmark of Fabry disease. Although it is well established that enzyme replacement therapy (ERT) prevents or slows the progression of disease on target organs in the majority of patients, the long-term effect of ERT on angiokeratomas remains unknown. We present a patient diagnosed with Fabry disease at age 11, with rapid progression of new angiokeratomas in typical regions before beginning treatment with ERT. Read More

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Post-transplant de-novo renal phospholipidosis in a kidney transplant recipient: Fabry disease or something else?

Clin Nephrol Case Stud 2020 29;8:46-48. Epub 2020 May 29.

John C. McDonald Regional Transplant Center - Willis Knighton Health System.

Renal phospholipidosis is a rare cause of proteinuria and kidney dysfunction. We describe a kidney transplant recipient who presented with slowly rising serum creatinine, nephrotic range proteinuria, and lower extremity edema 10 years post transplant. He was diagnosed with renal phospholipidosis on the transplant kidney biopsy. Read More

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http://dx.doi.org/10.5414/CNCS110131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303541PMC

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

Authors:
Juan Politei

Mol Genet Metab 2020 Jun 6. Epub 2020 Jun 6.

Fundation for the Study of Neurometabolic Diseases, FESEN, Argentina. Electronic address:

Fabry disease is an X-linked disease due to a deficiency of the lysosomal enzyme alpha-galactosidase A. Clinical symptoms in classically affected males include acroparesthesia, anhydrosis and angiokeratoma, which may present during childhood followed by cardiac, cerebral and renal complications. Even though pulmonary involvement is not widely appreciated by clinicians, an obstructive lung disease is another recognized component of Fabry disease. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274950PMC

Histological changes of a kidney in a recipient who received an allograft from a patient with Fabry disease.

J Nephrol 2020 Jun 13. Epub 2020 Jun 13.

Division of Nephrology and Kidney Center, Kobe University Graduate School of Medicine, 7-5-2, Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan.

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http://dx.doi.org/10.1007/s40620-020-00782-5DOI Listing

Effects of orally delivered alpha-galactosidase A on gastrointestinal symptoms in patients with Fabry disease.

Gastroenterology 2020 Jun 11. Epub 2020 Jun 11.

Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2020.06.007DOI Listing

Kidney Transplant in Fabry Disease: A Revision of the Literature.

Medicina (Kaunas) 2020 Jun 10;56(6). Epub 2020 Jun 10.

Department of Experimental Diagnostic and Specialty Medicine (DIMES), Nephrology, Dialysis and Renal Transplant Unit, S. Orsola-Malpighi Hospital, University of Bologna, 40138 Bologna, Italy.

Fabry disease is classified as a rare X-linked disease caused by a complete or partial defect of enzyme alpha-galactosidase, due to gene mutations. This disorder leads to intracellular globotriaosylceramide (Gb3) deposition associated with increased Gb3 plasma levels. Most of the symptoms of the disease, involving kidneys, heart and nervous system, result from this progressive Gb3 deposition. Read More

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http://dx.doi.org/10.3390/medicina56060284DOI Listing

Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?

Am Heart J 2020 Apr 18;226:114-126. Epub 2020 Apr 18.

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: Fabry disease (FD) is a treatable cause of hypertrophic cardiomyopathy (HCM). We aimed to determine the independent predictors of FD and to define a clinically useful strategy to discriminate FD among HCM.

Methods: Multicenter study including 780 patients with the ESC definition of HCM. Read More

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http://dx.doi.org/10.1016/j.ahj.2020.04.006DOI Listing

Treatment switch in Fabry disease- a matter of dose?

J Med Genet 2020 Jun 10. Epub 2020 Jun 10.

Internal Medicine D, Department of Nephrology, Hypertension and Rheumatology and Interdisciplinary Fabry Center Münster (IFAZ), University Hospital Münster, Münster, Germany

Background: Patients with Fabry disease (FD) on reduced dose of agalsidase-beta or after switch to agalsidase-alfa show a decline in chronic kidney disease epidemiology collaboration-based estimated glomerular filtration rate (eGFR) and a worsened plasma lyso-Gb3 decrease. Hence, the most effective dose is still a matter of debate.

Methods: In this prospective observational study, we assessed end-organ damage and clinical symptoms in 78 patients who had received agalsidase-beta (1. Read More

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http://dx.doi.org/10.1136/jmedgenet-2020-106874DOI Listing

AA amyloidosis associated with Fabry disease.

Int J Clin Pract 2020 Jun 9:e13577. Epub 2020 Jun 9.

Sorbonne Université, AP-HP, Hôpital Tenon, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), Service de médecine interne, F-75020, Paris, France.

Background: Fabry disease is the second most common lysosomal storage disorder, carrying a large morbidity and mortality. It has been recently reported that lysosomal storage disorders could cause inflammation and, subsequently, AA amyloidosis. Our aim was to describe AA amyloidosis cases occurring in the course of Fabry disease. Read More

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http://dx.doi.org/10.1111/ijcp.13577DOI Listing

The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage.

Eur Heart J Cardiovasc Imaging 2020 Jun 8. Epub 2020 Jun 8.

Cardiology Division, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland.

Aims: Cardiac involvement in Fabry disease (FD) occurs prior to left ventricular hypertrophy (LVH) and is characterized by low myocardial native T1 with sphingolipid storage reflected by cardiovascular magnetic resonance (CMR) and electrocardiogram (ECG) changes. We hypothesize that a pre-storage myocardial phenotype might occur even earlier, prior to T1 lowering.

Methods And Results: FD patients and age-, sex-, and heart rate-matched healthy controls underwent same-day ECG with advanced analysis and multiparametric CMR [cines, global longitudinal strain (GLS), T1 and T2 mapping, stress perfusion (myocardial blood flow, MBF), and late gadolinium enhancement (LGE)]. Read More

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http://dx.doi.org/10.1093/ehjci/jeaa101DOI Listing
June 2020
3.669 Impact Factor

Ultra-Deep DNA Methylation Analysis of X-Linked Genes: and as Model Genes.

Genes (Basel) 2020 Jun 4;11(6). Epub 2020 Jun 4.

Department of Molecular Medicine and Medical Biotechnology, Università degli Studi di Napoli 'Federico II', Via S. Pansini, 5, 80131 Naples, Italy.

Recessive X-linked disorders may occasionally evolve in clinical manifestations of variable severity also in female carriers. For some of such diseases, the frequency of the symptoms' appearance during women's life may be particularly relevant. This phenomenon has been largely attributed to the potential skewness of the X-inactivation process leading to variable phenotypes. Read More

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http://dx.doi.org/10.3390/genes11060620DOI Listing

Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.

J Inherit Metab Dis 2020 Jun 8. Epub 2020 Jun 8.

Department of Endocrinology and Metabolism, Amsterdam UMC, Location AMC, University of Amsterdam, Amsterdam, The Netherlands.

Patients with Fabry disease (FD) have a high prevalence of depressive symptoms and can suffer from cognitive impairment, negatively affecting their life. The course of cognitive functioning and depressive symptoms in FD is unknown. The aim of this prospective cohort study was to describe changes in cognitive functioning and depressive symptoms and to identify related variables in patients with FD over 1 year. Read More

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http://dx.doi.org/10.1002/jimd.12271DOI Listing

Multiplexed derivatization strategy-based dummy molecularly imprinted polymers as sorbents for magnetic dispersive solid phase extraction of globotriaosylsphingosine prior to UHPLC-MS/MS quantitation.

Mikrochim Acta 2020 Jun 5;187(7):373. Epub 2020 Jun 5.

Beijing National Laboratory for Molecular Sciences, Institute of Analytical Chemistry, College of Chemistry and Molecular Engineering, Peking University, Beijing, 100871, People's Republic of China.

A new series of 9-plex chemical isotope-labeling reagents, levofloxacin-based mass tags (LMTs) named as LMT359, 360, 361, 362, 363, 373, 375, 376, and 378, was firstly designed and synthesized for the high-throughput labeling of globotriaosylsphingosine (lyso-Gb3), a disease biomarker of Fabry disease. Creatively based on derivatization strategy-dummy template technique, dummy magnetic molecularly imprinted polymers (DMMIPs) were designed and prepared using LMT387-labeled lyso-Gb3 as a dummy template. The novel DMMIP material was used as sorbents for magnetic dispersive solid-phase extraction of 9-plexed LMT derivatives of lyso-Gb3 from equally mixed derivatization solutions. Read More

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http://dx.doi.org/10.1007/s00604-020-04341-4DOI Listing

Recurrent arterial thrombosis in a patient with Fabry disease: case report.

J Vasc Bras 2020 Mar 10;19:e20190096. Epub 2020 Mar 10.

Faculdade Ingá, Departamento de Medicina, Maringá, PR, Brasil.

Fabry disease is a rare disease, defined as an X-linked lysosomal deposition disease that presents with multisystemic symptoms, including vascular impairment with thrombotic events. A 57-year-old female patient diagnosed with Fabry disease 11 years previously, presented with hyperhidrosis, hypoacusis, and angiokeratoma on the hands. Her previous pathological history included an episode of ischemic stroke before the age of 40 years and chronic acute thrombosis in the right lower limb, 1 year previously, which had been treated with stent angioplasty, with temporary improvement followed by recent relapse of the condition. Read More

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http://dx.doi.org/10.1590/1677-5449.190096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244207PMC

Severe lupus nephritis: an unexpected association with Fabry disease.

Lupus 2020 Jul 3;29(8):1004-1005. Epub 2020 Jun 3.

Rheumatology, Allergology and Clinical Immunology, Department of 'Medicina dei Sistemi', University of Rome Tor Vergata, Rome, Italy.

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http://dx.doi.org/10.1177/0961203320928396DOI Listing

Rapid Clathrin-Mediated Uptake of Recombinant α-Gal-A to Lysosome Activates Autophagy.

Biomolecules 2020 May 30;10(6). Epub 2020 May 30.

Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, VA 22030, USA.

Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A (rh-α-Gal A) is the standard treatment for Fabry disease (FD). ERT has shown a significant impact on patients; however, there is still morbidity and mortality in FD, resulting in progressive cardiac, renal, and cerebrovascular pathology. The main pathway for delivery of rh-α-Gal A to lysosome is cation-independent mannose-6-phosphate receptor (CI-M6PR) endocytosis, also known as insulin-like growth factor 2 receptor (IGF2R) endocytosis. Read More

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http://dx.doi.org/10.3390/biom10060837DOI Listing

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.

Genet Mol Biol 2020 29;43(2):e20180334. Epub 2020 May 29.

Hospital de Clínicas de Porto Alegre, Medical Genetics Service, Porto Alegre, RS, Brazil.

Lysosomal storage disorders (LSDs) are a group of genetic disorders characterized by deficiency of specific lysosomal enzymes. In general, patients are clinically normal at birth, and progressively develop severe signs and symptoms. Diagnosis is usually made several years after onset of manifestations, preventing patients to have the benefits of the early treatment. Read More

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http://dx.doi.org/10.1590/1678-4685-GMB-2018-0334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263201PMC

Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease.

Indian Dermatol Online J 2020 Mar-Apr;11(2):212-215. Epub 2020 Mar 9.

Department of Skin and VD, Smt SCL General Hospital, Ahmedabad, Gujarat, India.

Angiokeratomas are variable sized hyperkeratotic vascular papules that are characterized histologically by superficial dilated capillaries in papillary dermis with epidermal proliferation. They can occur as a single lesion to a generalized form (angiokeratoma corporis diffusum). Angiokeratoma corporis diffusum though initially synonymous with Anderson Fabry disease, is now known to occur in a variety of lysosomal enzyme deficiencies. Read More

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http://dx.doi.org/10.4103/idoj.IDOJ_136_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7247653PMC

Pulse-cancellation echocardiography in Fabry disease diagnosis.

Echocardiography 2020 Jun 23;37(6):908-912. Epub 2020 May 23.

Department of Cardiology, Albany Medical College, Albany, NY, USA.

Pulse-cancellation imaging is a novel echocardiographic imaging modality developed for detection of myocardial fibrosis. This technique cancels echocardiographic reflections from the normal myocardium but clearly displays the abnormal tissue. We describe, for the first time, pulse-cancellation echocardiography application in detecting Fabry disease myocardial involvement. Read More

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http://dx.doi.org/10.1111/echo.14707DOI Listing

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233460PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7244174PMC

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy.

Mol Genet Metab Rep 2020 Sep 15;24:100596. Epub 2020 May 15.

Department of Medicine, Queen Elizabeth Hospital, Hong Kong Special Administrative Region.

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the gene that encodes α-galactosidase A. The p.N215S (c. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2020.100596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229279PMC
September 2020

Prognostic significance of right ventricular hypertrophy and systolic function in Anderson-Fabry disease.

ESC Heart Fail 2020 May 20. Epub 2020 May 20.

Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, Rome, 00168, Italy.

Aims: Right ventricular hypertrophy (RVH) is a common finding in Anderson-Fabry disease (AFD), but the prognostic role of right ventricular (RV) involvement has never been assessed. The aim of our study was to evaluate the prognostic significance of RVH and RV systolic function in AFD.

Methods And Results: Forty-five AFD patients (56% male patients) with extensive baseline evaluation, including assessment of RVH and RV systolic function, were followed-up for an average of 51. Read More

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http://dx.doi.org/10.1002/ehf2.12712DOI Listing

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.

PLoS One 2020 19;15(5):e0233050. Epub 2020 May 19.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

Introduction: Lysosomal storage diseases (LSDs) are rare inherited metabolic diseases characterized by an abnormal accumulation of various toxic materials in the cells as a result of enzyme deficiencies leading to tissue and organ damage. Among clinical manifestations, cardiac diseases are particularly important in Pompe glycogen storage diseases (PD), in glycosphingolipidosis Fabry disease (FD), and mucopolysaccharidoses (MPS). Here, we evaluated the occurrence of aortopathy in knock out (KO) mouse models of three different LSDs, including PD, FD, and MPS IIIB. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0233050PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236983PMC

[Clinical and diagnostic key points of left ventricular hypertrophy in adults: insights from the ANMCO Lombardy experience].

G Ital Cardiol (Rome) 2020 Jun;21(6):447-456

U.O. Cardiologia, Ospedale - ASST di Cremona.

Left ventricular hypertrophy is a common complication of different diseases. Among these, cardiac involvement of amyloidosis or Anderson-Fabry disease are often unrecognized. Early diagnosis is therefore crucial because new therapies can impact the progression of these diseases. Read More

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http://dx.doi.org/10.1714/3359.33329DOI Listing

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.

Mol Genet Metab 2020 Jul 3;130(3):209-214. Epub 2020 May 3.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA.

Purpose: Successful diagnosis of Fabry disease is often delayed or missed in patients, especially females, due to clinical heterogeneity and a lack of disease awareness. We present our experience testing for Fabry disease in high risk populations and discuss the relative sensitivities of α-galactosidase A (α-Gal A) enzyme activity in blood, plasma lyso-globotriaosylceramide (lyso-Gb) biomarker, and GLA gene sequencing as diagnostic tests for Fabry disease in both males and females.

Methods: Patients with a clinical suspicion of Fabry disease were evaluated with enzyme analysis, biomarker analysis, and GLA sequencing. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.04.006DOI Listing

Late-onset Fabry disease presenting with ventricular tachycardia originating from typical inferolateral scar.

Can J Cardiol 2020 May 11. Epub 2020 May 11.

Department of Cardiac Imaging, North West Heart Centre, Wythenshawe Hospital, Manchester University NHS Foundation Trust, Southmoor Road, Manchester M23 9LT, UK.

Late-onset cardiac Fabry disease is not uncommon among patients with unexplained left ventricular hypertrophy. Despite a less severe phenotype, life-threatening complications are possible in late-onset cardiac Fabry and may be the first presentation of the disease. Classical imaging features support the diagnosis, however, the presence of less common findings such as ischemic features should not lead to overlooking the diagnosis. Read More

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http://dx.doi.org/10.1016/j.cjca.2020.04.042DOI Listing

Fabry disease presenting as bilateral medial medullary infarction with a "heart appearance" sign: a case report.

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

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http://dx.doi.org/10.1186/s12883-020-01766-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216630PMC
May 2020
2.040 Impact Factor

Predictive Value of Cardiac MRI in Patients with Fabry Disease.

Radiology 2020 May 12:200909. Epub 2020 May 12.

Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, 11/5 Rossolimo St, Moscow 119021, Russian Federation.

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http://dx.doi.org/10.1148/radiol.2020200909DOI Listing

Cardiovascular magnetic resonance native T and T quantitative values for cardiomyopathies and heart transplantations: a systematic review and meta-analysis.

J Cardiovasc Magn Reson 2020 May 11;22(1):34. Epub 2020 May 11.

Department of Radiology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, 9713 GZ, Groningen, The Netherlands.

Background: The clinical application of cardiovascular magnetic resonance (CMR) T and T mapping is currently limited as ranges for healthy and cardiac diseases are poorly defined. In this meta-analysis we aimed to determine the weighted mean of T and T mapping values in patients with myocardial infarction (MI), heart transplantation, non-ischemic cardiomyopathies (NICM) and hypertension, and the standardized mean difference (SMD) of each population with healthy controls. Additionally, the variation of mapping outcomes between studies was investigated. Read More

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http://dx.doi.org/10.1186/s12968-020-00627-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212597PMC

Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies.

Mol Genet Metab 2020 Jul 1;130(3):215-224. Epub 2020 May 1.

Advanced Clinical Research Centre & Asian Lysosome Storage Disorder Centre, Institute of Neurological Disorders, Japan.

Fabry disease is a rare X-linked lysosomal disease, in which mutations in the gene encoding α-galactosidase A result in progressive cellular accumulation of globotriaosylceramide (GL-3) in various organs including the skin, kidney, and heart, often leading to life-threatening conditions. Enzyme replacement therapy is currently the standard therapy for the disease, to which two α-galactosidase A formulations have been approved: agalsidase α (Replagal®, Shire) and agalsidase β (Fabrazyme®, Sanofi). We have recently developed a biosimilar of agalsidase β, JR-051, and investigated its pharmacokinetics and pharmacodynamics to assess its bioequivalence to agalsidase β. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.04.003DOI Listing

Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutation.

Stem Cell Res 2020 May 20;45:101794. Epub 2020 Apr 20.

Departamento de Genetica Humana, Unidade de Investigacao e Desenvolvimento, Instituto Nacional de Saude Dr Ricardo Jorge (INSA, IP), Rua Alexandre Herculano 321, 4000-055 Porto, Portugal; CECA, ICETA, University of Porto, 4099-002 Porto, Portugal. Electronic address:

Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. Read More

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http://dx.doi.org/10.1016/j.scr.2020.101794DOI Listing

Characterization of Fabry Disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping.

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

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http://dx.doi.org/10.1007/s10554-020-01823-7DOI Listing

Multimodality imaging approach to Fabry cardiomyopathy: Any role for nuclear cardiology?

J Nucl Cardiol 2020 May 6. Epub 2020 May 6.

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.

Anderson-Fabry disease (AFD) is a multisystem X-linked disorder of lipid metabolism frequently associated with progressive glycosphingolipid accumulation in cardiac, renal, and nervous cells. The diagnosis of AFD is usually assessed by enzyme assay and genetic tests, but advanced cardiac imaging can be useful in detecting early signs of the disease. Echocardiography and cardiac magnetic resonance are the first-line imaging modalities to investigate cardiac involvement in AFD, but the recent introduction of new molecular and hybrid imaging techniques opens to a wider range of diagnostic applications. Read More

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http://dx.doi.org/10.1007/s12350-020-02124-1DOI Listing

A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.

J Clin Med 2020 May 2;9(5). Epub 2020 May 2.

Department of Metabolic Biochemistry, Rouen University Hospital, 76000 Rouen, France.

: Fabry disease (FD) is an X-linked progressive lysosomal disease (LD) due to glycosphingolipid metabolism impairment. Currently, plasmatic globotriaosylsphingosine (LysoGb3) is used for disease diagnosis and monitoring. However, this biomarker is inconstantly increased in mild forms and in some female patients. Read More

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http://dx.doi.org/10.3390/jcm9051325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290805PMC

[Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient].

Internist (Berl) 2020 Jun;61(6):621-625

Klinik für Dermatologie, Venerologie und Allergologie, HELIOS St. Elisabeth Klinik Oberhausen, Universität Witten/Herdecke, Josefstr. 3, 46045, Oberhausen, Deutschland.

A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogenetically, Fabry disease leads to a deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A). Read More

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http://dx.doi.org/10.1007/s00108-020-00793-1DOI Listing

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Pediatr Nephrol 2020 Apr 30. Epub 2020 Apr 30.

Department of Pathology, Stanford University, H2110, 300 Pasteur Drive, Stanford, CA, 94305, USA.

Background: Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance. More recently, iatrogenic phospholipidosis has emerged as an important alternate cause of myelin figures in the kidney.

Methods: We report two families with autosomal dominant nephropathy presenting with proteinuria and microscopic hematuria, and the kidney biopsies were notable for the presence of myelin figures and zebra bodies. Read More

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http://dx.doi.org/10.1007/s00467-020-04564-wDOI Listing
April 2020
2.856 Impact Factor

Fabry cardiomyopathy: Gb3-induced auto-reactive panmyocarditis requiring heart transplantation.

ESC Heart Fail 2020 Jun 29;7(3):1331-1337. Epub 2020 Apr 29.

Cardiothoracic Surgery, Udine University Hospital, Rome, Italy.

Resistance to enzyme replacement therapy (ERT) is a major therapeutic challenge in Fabry disease (FD). Recent reports attribute to immune-mediated inflammation a main role in promoting disease progression and resistance to ERT. Aim of the study is to report a Gb3-induced auto-reactive panmyocarditis causing inefficacy of ERT and severe electrical instability, which required cardiac transplantation. Read More

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http://dx.doi.org/10.1002/ehf2.12723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261584PMC

Heritable and non-heritable uncommon causes of stroke.

J Neurol 2020 Apr 21. Epub 2020 Apr 21.

Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. Read More

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http://dx.doi.org/10.1007/s00415-020-09836-xDOI Listing

Determinants of cerebral radiological progression in Fabry disease.

J Neurol Neurosurg Psychiatry 2020 Jul 21;91(7):756-763. Epub 2020 Apr 21.

Endocrinology and Metabolism, Amsterdam UMC-Locatie AMC, Amsterdam, The Netherlands

Background And Aim: It is unclear which patients with Fabry disease (FD) are at risk for progression of white matter lesions (WMLs) and brain infarctions and whether enzyme replacement therapy (ERT) changes this risk. The aim of this study was to determine the effect of ERT and clinical characteristics on progression of WMLs and infarctions on MRI in patients with FD.

Methods: MRIs were assessed for WMLs (Fazekas scale), infarctions and basilar artery diameter (BAD). Read More

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http://dx.doi.org/10.1136/jnnp-2019-322268DOI Listing

Left ventricular radial strain impairment precedes hypertrophy in Anderson-Fabry disease.

Int J Cardiovasc Imaging 2020 Apr 18. Epub 2020 Apr 18.

Department of Advanced Biomedical Sciences, Federico II University, Via Pansini, 5, 80131, Naples, Italy.

In Anderson-Fabry disease (AFD), left ventricular (LV) radial function has been scarcely investigated. We hypothesized that LV function may be affected by disease specific mechanisms and sought to comprehensively evaluate LV radial, circumferential and longitudinal function in a large population of AFD patients looking at the influence of LV geometry and fibrosis. We prospectively studied 94 consecutive AFD patients (41. Read More

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http://dx.doi.org/10.1007/s10554-020-01847-zDOI Listing

Heart transplantation in cardiac storage diseases: data on Fabry disease and cardiac amyloidosis.

Curr Opin Organ Transplant 2020 Jun;25(3):211-217

Department of Cardiothoracic Science.

Purpose Of Review: To deeply investigate one type of intracellular cardiac storage disease, the Fabry disease and one example of extracellular cardiac storage disease, the cardiac amyloidosis, with the aim to collect data about cardiac treatment at the end-stage level and the feasibility of heart transplantation (HTx) in this setting of patients.

Recent Findings: Some registry describes that Fabry disease and cardiac amyloidosis showed similar characteristics as hypertrophic cardiomyopathies; thus, their correct diagnosis is often missing or time consuming. A multiorgan approach is mandatory to recognize the main systemic findings of these diseases, involving also the kidneys, the brain, the autonomous system and the skin. Read More

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http://dx.doi.org/10.1097/MOT.0000000000000756DOI Listing

Fabry disease in two brothers with proteinuria: A case report and Fabry disease review
.

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

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http://dx.doi.org/10.5414/CN109908DOI Listing