| Diagnosis and management of familial Mediterranean fever: Integrating medical genetics in a dedicated interdisciplinary clinic. | |
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MedLine Citation:
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PMID: 21317656 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Familial Mediterranean fever is an autosomal recessive genetic disorder characterized by recurrent febrile polyserositis, especially prevalent in individuals of Mediterranean descent. Familial Mediterranean fever can have nonspecific manifestations that mimic many common acquired disorders such as infections, acute appendicitis, cholecystitis, and arthritis, which can delay diagnosis for many years and subject patients to extensive evaluations and even unnecessary surgery. Untreated familial Mediterranean fever can result in serious complications such as end-stage renal disease and malabsorption secondary to amyloid deposition in the kidneys and digestive tract, male and female infertility, and growth retardation in children. These significant sequelae, along with the episodic acute attacks, are readily preventable by treatment with oral colchicine and underscore the necessity of early detection and treatment from a medical, psychosocial, and economic standpoint. We describe our comprehensive approach to the accurate diagnosis and effective management of this disorder by means of a dedicated familial Mediterranean fever clinic that incorporates medical genetics on equal footing with general medicine. In addition to providing the clinician with the presenting features of familial Mediterranean fever, methods of diagnosis including molecular testing, and current management based on our extensive experience with hundreds of affected individuals, we also advance this approach as a model for the incorporation of medical genetics practice into the more traditional domains of general medicine. |
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Authors:
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Neda Zadeh; Terri Getzug; Wayne W Grody |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-10 |
Journal Detail:
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Title: Genetics in medicine : official journal of the American College of Medical Genetics Volume: - ISSN: 1530-0366 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-14 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9815831 Medline TA: Genet Med Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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From the 1Department of Pathology and Laboratory Medicine, 2Department of Human Genetics, 3Division of Digestive Diseases, Department of Medicine, and 4Department of Pediatrics, UCLA Medical Center, Los Angeles, California. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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