SMi Source Lesson Lysosomal Storage Disorders: Fabry Disease

  • SMi Source lesson Lysosomal Storage Disorders: Fabry Disease has the following microlearning topics

  • 1. Fabry Disease: Introduction

    2. Learning Objectives

    3. Common Clinical Manifestations

    4. Common Clinical Manifestations: Neurological

    5. Common Clinical Manifestations: Physical

    6. Common Clinical Manifestations: Renal

    7. Common Clinical Manifestations: Dermatological

    8. Common Clinical Manifestations: Ophthalmological

    9. Common Clinical Manifestations: Otological

    10. Common Clinical Manifestations: Gastrointestinal

    11. Common Clinical Manifestations: Pulmonary Involvement

    12. Common Clinical Manifestations: Vascular

    13. Common Clinical Manifestations: Psychiatric

    14. Common Clinical Manifestations

    15. Etiology

    16. Molecular Etiology

    17. Inheritance Pattern

    18. Incidence

    19. Natural History

    20. Diagnosis of Fabry Disease by Gender

    21. Diagnostic Tests: Enzyme Assay and Molecular Genetic

    22. Diagnostic Tests: Urinalysis and Skin Biopsy

    23. Goals of Treatment

    24. Summary and Key Points

    25. Learning Objectives

  • Lesson Lysosomal Storage Disorders: Fabry Disease teaches these concepts

  • Fabry Disease

    Fabry Disease: Introduction

  • Lesson Lysosomal Storage Disorders: Fabry Disease addresses these key points

  • Overview

    • Common clinical manifestations
    • Etiology

    Genetics of Fabry Disease

    • Molecular etiology
    • Inheritance pattern
      • Fabry disease in females

    Epidemiology and Natural History

    • Incidence 
    • Natural history

    Diagnosis of Fabry Disease

    • Diagnostic tests
      • Enzyme assay
      • Molecular genetic testing


    • Goals of treatment
      • Slow disease progression
      • Manage symptoms
  • Lesson Lysosomal Storage Disorders: Fabry Disease is built from these main references. Log into SMi Source for a complete list and details.

  • Clarke JT. Narrative review: Fabry disease. Ann Intern Med. 2007; 146:425-433.