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
Management
- 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.