The reported prevalence of the classic form of Fabry disease—in which little or no α-galactosidase A activity is present—is estimated to be 1 in 40,000 individuals. Mutations that cause atypical presentations may be more common, affecting more than 1 in _____ and 1 in _____.
A. 1,000 males and 6,000 females
As a result of abnormal levels of α-galactosidase A (GLA) activity, globotriaosylceramide and related glycolipids accumulate in a variety of organ systems, leading to cellular dysfunction, tissue remodeling, fibrosis, ischemia, and, ultimately, severe end-organ damage. Manifestations of Fabry disease are variable and differ according to sex, age, and GLA activity, making diagnosis a challenge. (Eng CM, et al. Genet Med. 2006;8(9):539-48.)
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William R. Wilcox, MD, PhD
Professor of Human Genetics and Pediatrics
Department of Human Genetics
Emory University School of Medicine
Iwona Misiuta, PhD, MHA
Clinical Content Manager
Director of Continuing Medical Education
Upon completion, participants should be able to:
- Describe the current understanding of the variable presentations of FD
- Select appropriate patients with FD who may benefit from early intervention with ERT
This activity is intended for nephrologists and medical geneticists.
Series Overview/Statement of Need
Fabry disease (FD) is an inherited, X-linked lysosomal storage disorder caused by deficiency of the α-galactosidase A (GLA) enzyme. The GLA gene is located at Xq22, and more than 800 mutations in this gene have been identified. The reported prevalence of the classic form of FD—in which little or no GLA activity is present—is estimated to be 1 in 40,000 individuals. However, mutations that cause atypical presentations may be more common, affecting more than 1 in 1,000 males and 1 in 6,000 females.
As a result of abnormal levels of GLA activity, an accumulation of globotriaosylceramide (GL3 or GB3) and related glycolipids occurs in a variety of organs, leading to cellular dysfunction, tissue remodeling, fibrosis, ischemia, and, ultimately, severe end-organ damage. FD manifestations are variable and differ according to sex and age, making diagnoses a challenge.
It is important that nephrologists and medical geneticists be able to identify symptoms of FD. Clinicians need to be aware of the current understanding of the pathology of FD—particularly the associated end-organ damage—and weigh the risks and benefits of initiating treatment.
Med-IQ is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. Med-IQ designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Medium/Method of Participation
This CME activity consists of a 0.75-credit online publication. To receive credit, read the introductory CME material, read the publication, and complete the post-survey, evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.
Original Release Date: December 22, 2016
Expiration Date: December 21, 2017
Estimated Time to Complete This Activity: 45 minutes
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William R. Wilcox, MD, PhD
Consulting fees/advisory boards: Sanofi Genzyme
Contracted research: Amgen, Amicus Therapeutics, ArmaGen, BioMarin, F. Hoffmann-La Roche Ltd., Protalix Biotherapeutics, Sanofi Genzyme, Shire
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