Diagnosis and treatment of the cardiovascular consequences of Fabry disease
| Autor: | Ravi Vijapurapu, Fahad J. Alharbi, Richard P. Steeds, Rebecca Kozor, Tarekegn Geberhiwot, Shanat Baig, B Bembi, Sabrina Nordin, James C. Moon |
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| Rok vydání: | 2018 |
| Předmět: |
medicine.medical_specialty
Asymptomatic 03 medical and health sciences 0302 clinical medicine Pharmacotherapy Medicine Humans Enzyme Replacement Therapy 030212 general & internal medicine Intensive care medicine Cause of death Tomography Emission-Computed Single-Photon Modalities business.industry Disease progression General Medicine Enzyme replacement therapy medicine.disease Fabry disease Magnetic Resonance Imaging Cardiovascular Diseases Etiology Disease Progression Fabry Disease medicine.symptom business |
| Zdroj: | QJM : monthly journal of the Association of Physicians. 112(1) |
| ISSN: | 1460-2393 |
| Popis: | Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organized clinical services for rare diseases, has led to a rapid growth in the prevalence of FD. The earlier and more frequent diagnosis of asymptomatic individuals before development of the phenotype has focussed attention on early detection of organ involvement and closer monitoring of disease progression. The high cost of enzyme replacement therapy at a time of constraint within many health economies, moreover, has challenged clinicians to target treatment effectively. This article provides an outline of FD for the general physician and summarizes the aetiology and pathology of FD, the cardiovascular consequences thereof, modalities used in diagnosis and then discusses current indications for treatment, including pharmacotherapy and device implantation. |
| Databáze: | OpenAIRE |
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