Fabry disease : perspectives from 5 years of FOS / Hermann Fabry, [and three others].

Format:

Book

Author/Creator:

Fabry, Hermann, author.

Language:

English

Subjects (All):

Lysosomal storage diseases.

Physical Description:

1 online resource (xx, 423 pages) : illustrations

Other Title:

Fabry disease

Place of Publication:

Oxford : PharmaGenesis, 2006.

Summary:

Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life.

Contents:

Section 1. General aspects of lysosomal storage diseases

1. History of lysosomal storage diseases: an overview

2. Epidemiology of lysosomal storage diseases: an overview

3. Physiology of the lysosome

4. Cellular pathophysiology of lysosomal storage diseases

5. Importance of glycosylation in enzyme replacement therapy

6. Animal models of lysosomal storage diseases: their development and clinical relevance

7. General aspects of X-linked diseases

8. Laboratory diagnosis of lysosomal storage diseases

9. Biomarkers in lysosomal storage diseases

10. Enzyme replacement therapy - a brief history

11. Regulatory framework for the treatment of orphan diseases

12. Role of patient support groups in lysosomal storage diseases

13. The patient's perspective of Fabry disease - a report from the German Fabry Patient Support Group

Section 2. Development of FOS - the Fabry Outcome Survey

14. Formal trials versus observational studies

15. Organization and technical aspects of FOS - the Fabry Outcome Survey

Section 3. Fabry disease: clinical features and natural course

16. Demographics of FOS - the Fabry Outcome Survey

17. Diagnosis of Fabry disease: the role of screening and case-finding studies

18. Biochemical and genetic diagnosis of Fabry disease

19. Natural history of Fabry disease

20. The heart in Fabry disease

21. Renal manifestations of Fabry disease

22. Neurological manifestations of Fabry disease

23. Nervous system manifestations of Fabry disease: data from FOS - the Fabry Outcome Survey

24. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy

25. Fabry disease and the ear

26. Ophthalmological manifestations of Fabry disease

27. Pulmonary involvement in Fabry disease

28. Gastrointestinal manifestations of Fabry disease

29. Neuropsychiatric and psychosocial aspects of Fabry disease

30. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy

31. Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease

32. Measurement of disease severity and progression in Fabry disease

33. The genetic basis of Fabry disease

34. Genotype-phenotype correlation in Fabry disease

Section 4. Selected aspects of the clinical management of Fabry disease

35. A multidisciplinary approach to the care of patients with Fabry disease

36. Development of enzyme replacement therapy for Fabry disease

37. Enzyme replacement therapy and the heart

38. Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS - the Fabry Outcome Survey

39. Neurological effects of enzyme replacement therapy in Fabry disease

40. Effects of enzyme replacement therapy on pain and overall quality of life

41. Safety of enzyme replacement therapy

42. Monitoring and follow-up of patients

43. Possible future therapies for Fabry disease

44. Concluding remarks.

Notes:

Description based on publisher supplied metadata and other sources.