Fabry Disease

1. Front Matter

   Pages i-xxxvii

   PDF

2. Pre-Clinical

   1. Front Matter

      Pages 1-1

      PDF

   2. Molecular Genetics of Fabry Disease and Genotype–Phenotype Correlation

      • Andreas Gal

      Pages 3-19

   3. The Structure of Human α-Galactosidase A and Implications for Fabry Disease

      • Abigail I. Guce, Scott C. Garman

      Pages 21-38

   4. Subcellular, Cellular and Organ Pathology of Fabry Disease

      • Milan Elleder

      Pages 39-79

   5. Biochemistry of Fabry Disease

      • Martin Hřebíček, Jana Ledvinová

      Pages 81-104

   6. Clinically Relevant Examples of Genotype–Phenotype Correlation

      • Gheona Altarescu

      Pages 105-109

   7. Laboratory Diagnosis of Fabry Disease

      • Bryan Winchester, Elisabeth Young

      Pages 111-132

   8. Biomarkers for Fabry Disease

      • Johannes M.F.G. Aerts

      Pages 133-152

   9. Fabry Disease Case Finding Studies in High-Risk Populations

      • Gere Sunder-Plassmann, Manuela Födinger

      Pages 153-162

   10. Small Molecule Drug Discovery for Fabry Disease

       • Omid Motabar, Ehud Goldin, Wei Zheng, Ellen Sidransky

       Pages 163-177

3. Clinical

   1. Front Matter

      Pages 179-179

      PDF

   2. Clinical Manifestations of Fabry Disease: An Overview

      • Atul Mehta

      Pages 181-187

   3. The Heart in Fabry Disease – from Pathogenesis to Enzyme Replacement Therapy

      • Christoph Kampmann, Aleš Linhart

      Pages 189-210

   4. Renal Manifestations of Fabry Disease

      • David G. Warnock, Carmen Valbuena, Michael West, João Paulo Oliveira

      Pages 211-243

   5. Neurological Manifestations in Fabry Disease

      • Arndt Rolfs, Ales Dudesek, Jan Lukas, Tobias Böttcher

      Pages 245-257

   6. Dermatological Manifestations of Fabry Disease

      • Catherine H. Orteu

      Pages 259-274

   7. Histopathology of Skin in Fabry Disease

      • Carmen Navarro, Susana Teijeira, Saida Ortolano, Jose M. Fernandez, Beatriz San Millan, Carmen Fachal et al.

      Pages 275-292

   8. Bone and Muscle Involvement in Fabry Disease

      • Dominique P. Germain

      Pages 293-298

   9. The Eye in Fabry Disease

      • Andrea Sodi

      Pages 299-306

Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

• blood vessel
• bone
• cells
• endothelium
• genetics
• smooth muscle
• metabolic disease

From the reviews:

“As the first book dedicated to Fabry Disease, this provides an extensive, detailed review of all current information about this rare disorder. … The information presented here will serve genetics specialists in the evaluation, surveillance, and management of affected patients with this rare disorder.  … It is also a well-written and informative tool for families affected by this disorder, helping them understand its natural course and available treatment. … This highly specialized, unique book on this rare disorder has no comparison.” (Luis F. Escobar, Doody’s Review Service, March, 2012)

• , Shaare Zedek Medical Center, Gaucher Clinic, Jerusalem, Israel

  Deborah Elstein

• , Shaare Zedek Medical Center, Genetics Unit, Jerusalem, Israel

  Gheona Altarescu

• University of Mainz, Children's Hospital, Mainz, Germany

  Michael Beck

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