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Fabry Disease
Miral D. Jhaveri, MD, MBA; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Fabry disease (FD)
              • Synonyms

                • Anderson-Fabry disease
              • Definitions

                • X-linked disorder of glycosphingolipid metabolism
                • Deficient activity of α-galactosidase A

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Treatment

                                    DIAGNOSTIC CHECKLIST

                                    • Consider

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Bernardes TP et al: Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras (1992). 66Suppl 1(Suppl 1):s10-6, 2020
                                        2. Bokhari SRA et al: Fabry disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2020
                                        3. Miller JJ et al: Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj. 1864(1):129437, 2020
                                        4. Kramer J et al: Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 25(13):1530-7, 2018
                                        5. Marchesoni C et al: Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci. 395:131-4, 2018
                                        6. Kim SU: Lysosomal storage diseases: Stem cell-based cell- and gene-therapy. Cell Transplant. ePub, 2014
                                        7. Mahmud HM: Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc. 64(2):189-94, 2014
                                        8. Tuttolomondo A et al: Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des. 19(33):5974-96, 2013
                                        9. Buechner S et al: Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 79(11):1249-54, 2008
                                        10. Burlina AP et al: The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 255(5):738-44, 2008
                                        11. Fellgiebel A et al: CNS manifestations of Fabry's disease. Lancet Neurol. 5(9):791-5, 2006
                                        12. Ginsberg L et al: Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 95(451):57-62, 2006
                                        13. Lidove O et al: Imaging features of Fabry disease. AJR Am J Roentgenol. 186(4):1184-91, 2006
                                        14. Takanashi J et al: T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 24(5):916-21, 2003
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Abbreviations

                                                      • Fabry disease (FD)
                                                    • Synonyms

                                                      • Anderson-Fabry disease
                                                    • Definitions

                                                      • X-linked disorder of glycosphingolipid metabolism
                                                      • Deficient activity of α-galactosidase A

                                                    IMAGING

                                                    • General Features

                                                      • Imaging Recommendations

                                                        • CT Findings

                                                          • MR Findings

                                                            DIFFERENTIAL DIAGNOSIS

                                                              PATHOLOGY

                                                              • General Features

                                                                • Gross Pathologic & Surgical Features

                                                                  • Microscopic Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Treatment

                                                                          DIAGNOSTIC CHECKLIST

                                                                          • Consider

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Bernardes TP et al: Fabry disease: genetics, pathology, and treatment. Rev Assoc Med Bras (1992). 66Suppl 1(Suppl 1):s10-6, 2020
                                                                              2. Bokhari SRA et al: Fabry disease. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing, 2020
                                                                              3. Miller JJ et al: Progress in the understanding and treatment of Fabry disease. Biochim Biophys Acta Gen Subj. 1864(1):129437, 2020
                                                                              4. Kramer J et al: Biomarkers for diagnosing and staging of Fabry disease. Curr Med Chem. 25(13):1530-7, 2018
                                                                              5. Marchesoni C et al: Brain MRI findings in children and adolescents with Fabry disease. J Neurol Sci. 395:131-4, 2018
                                                                              6. Kim SU: Lysosomal storage diseases: Stem cell-based cell- and gene-therapy. Cell Transplant. ePub, 2014
                                                                              7. Mahmud HM: Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment. J Pak Med Assoc. 64(2):189-94, 2014
                                                                              8. Tuttolomondo A et al: Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des. 19(33):5974-96, 2013
                                                                              9. Buechner S et al: Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 79(11):1249-54, 2008
                                                                              10. Burlina AP et al: The pulvinar sign: frequency and clinical correlations in Fabry disease. J Neurol. 255(5):738-44, 2008
                                                                              11. Fellgiebel A et al: CNS manifestations of Fabry's disease. Lancet Neurol. 5(9):791-5, 2006
                                                                              12. Ginsberg L et al: Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 95(451):57-62, 2006
                                                                              13. Lidove O et al: Imaging features of Fabry disease. AJR Am J Roentgenol. 186(4):1184-91, 2006
                                                                              14. Takanashi J et al: T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease. AJNR Am J Neuroradiol. 24(5):916-21, 2003