CME Information Faculty Atul Mehta, MD Professor of Haematology Royal Free Hospital Department of Haematology University College London School of Medicine London, England Gregory M. Pastores, MD Associate Professor of Neurology and Pediatrics New York University School of Medicine Director, Neurogenetics Laboratory Department of Neurology New York University New York, New York Neal J. Weinreb, MD Director, University Research Foundation for Lysosomal Storage Diseases Coral Springs, Florida Voluntary Associate Professor of Medicine University of Miami Miller School of Medicine Miami, Florida Clinical Associate Professor of Medicine (Hematology) NOVA Southeastern University College of Osteopathic Medicine Davie, Florida Intended Audience This educational activity is intended to educate clinical geneticists, hematologists, oncologists, hepatologists, orthopedists, internists, family/general physicians, pulmonologists, pediatricians, gynecologists, OB/GYNs, chiropractors, gastroenterologists, and other clinicians interested in the management and treatment of type 1 Gaucher disease. Needs Assessment Gaucher disease (GD) is an autosomal recessive metabolic lipid storage disorder that results in devastating medical complications if undiagnosed or diagnosed late. Clinical presentation of GD varies greatly because of the heterozygous nature of the condition, however, it often presents as anemia, peripheral blood cytopenia, hematologic abnormalities due to hypersplenism, skeletal disease, and massive splenomegaly or hepatomegaly of unknown cause. There are 2 major forms of GD subdivided into 3 different types: non-neuropathic (type 1 [GD1]) and neuropathic (types 2 [GD2] and 3 [GD3]). GD1 is the most common form, occurring in 1 in 50,000 people in most countries. GD1 may present at any age and is marked by a low blood platelet count, anemia associated with fatigue, and related bruising. Splenomegaly and hepatomegaly, skeletal disorders, and lung and kidney dysfunction may occur, however, there are no associated signs of neurologic disorders. Physicians need to be aware of available therapies and the etiology of GD, particularly considering that it is a progressive disorder that may cause serious disabling and life-threatening complications. Specialists stated that only 20% considered GD in the differential diagnosis for all of its classic symptoms (ie, cytopenia, hepatosplenomegaly, bone pain), suggesting a great need for education to increase the likelihood of prompt detection of GD and improve its management. Educational Objectives At the conclusion of this activity, participants should be better able to… Recognize that type 1 Gaucher disease is a progressive, genetic disorder that may cause disabling and life-threatening complications Associate the widely varied clinical presentations of type 1 Gaucher disease with the condition to enable early differential diagnosis and treatment initiation Differentiate between available treatment options for type 1 Gaucher disease and choose appropriate therapy based on individual patient needs Accreditation and Certification This activity has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the Annenberg Center for Health Sciences at Eisenhower and CogniMed Inc. The Annenberg Center is accredited by the ACCME to provide continuing medical education for physicians. The Annenberg Center for Health Sciences at Eisenhower designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should only claim credit commensurate with the extent of their participation in the activity. There is no charge for this activity. Statements of Credit will be provided by mail following activity participation and upon completion and electronic submission of the posttest and evaluation form to CogniMed Inc. A link to the evaluation form is provided upon completion of the activity. Please allow 4 to 6 weeks for the delivery of your statement. Disclosure Statement It is the policy of the Annenberg Center to ensure fair balance, independence, objectivity, and scientific rigor in all programming. All faculty participating in sponsored programs are expected to identify and reference off-label product use and disclose any significant relationships with those supporting the activity or any others whose products or services are discussed. The faculty for this activity have disclosed that there will be discussion about the use of products for non–FDA-approved indications. In accordance with the Accreditation Council for Continuing Medical Education standards, parallel documents from other accrediting bodies, and Annenberg Center policy, the following disclosures have been made: All staff at the Annenberg Center for Health Sciences at Eisenhower have nothing to disclose. All staff at CogniMed Inc. have nothing to disclose. Atul Mehta, MD, receives research support from Actelion Pharmaceuticals Ltd, Genzyme Corporation, Protalix Biotherapeutics, and Shire and serves on the speakers bureaus of Genzyme Corporation and Shire. Gregory M. Pastores, MD, receives honoraria and research support from BioMarin Pharmaceutical Inc., Genzyme Corporation, Protalix Biotherapeutics, and Shire. Neal J. Weinreb, MD, receives research support from Genzyme Corporation and Shire and serves on the speakers bureaus of Actelion Pharmaceuticals Ltd, Genzyme Corporation, and Shire. He also serves on the medical advisory boards of Genzyme Corporation and Shire. The ideas and opinions presented in this educational activity are those of the faculty and do not necessarily reflect the views of the Annenberg Center and/or its agents. As in all educational activities, we encourage the practitioners to use their own judgment in treating and addressing the needs of each individual patient, taking into account that patient's unique clinical situation. The Annenberg Center disclaims all liability and cannot be held responsible for any problems that may arise from participating in this activity or following treatment recommendations presented. This program is supported by an independent educational grant provided by Actelion Pharmaceuticals Ltd and Pfizer Inc. This activity is an enduring material and consists of an online monograph. Successful completion is achieved by reading the material, reflecting on its implications in your practice, and completing the assessment component. The estimated time to complete this activity is 1 hour. This activity was originally released September 30, 2011, and is eligible for credit through September 30, 2012. This piece was written by a medical writer and reviewed by faculty members. Faculty have final editorial control over the piece. ©2011 CogniMed Inc. All rights reserved.   GD13003/ACHS 4850    September 2011