| Type 1 Hyperlipoproteinemia and Recurrent Acute Pancreatitis due to Lipoprotein Lipase Antibody in a Young Girl with Sjogren's Syndrome. | |
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MedLine Citation:
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PMID: 21880794 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Context:Type 1 hyperlipoproteinemia (T1HLP) in childhood is most often due to genetic deficiency of lipoprotein lipase (LPL) or other related proteins.Objective:The aim was to report a case of marked hypertriglyceridemia and recurrent acute pancreatitis due to the presence of LPL autoantibody in a young girl who was subsequently diagnosed with Sjögren's syndrome.Subject and Methods:A 9-yr-old African-American girl presented with acute pancreatitis and serum triglycerides of 4784 mg/dl. Strict restriction of dietary fat reduced serum triglycerides, but she continued to experience recurrent pancreatitis. Approximately 18 months thereafter, she developed transient pauciarticular arthritis with elevated serum antinuclear antibody (>1:1280). Minor salivary gland biopsy revealed chronic sialadenitis with a dense periductal lymphocytic aggregate suggestive of Sjögren's syndrome. Genomic DNA was analyzed for LPL, GPIHBP1, APOA5, APOC2, and LMF1. Immunoblotting was performed to detect serum LPL autoantibody.Results:The patient had no disease-causing variants in LPL, GPIHBP1, APOA5, APOC2, or LMF1. Immunoblotting revealed serum LPL antibody. The patient responded to immunosuppressive therapy for Sjögren's syndrome with resolution of hypertriglyceridemia.Conclusions:Unexplained T1HLP in childhood could be secondary to LPL deficiency induced by autoantibodies. Therefore, diagnosis of autoimmune T1HLP should be entertained if clinical features are suggestive of an autoimmune process. |
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Authors:
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Ambika P Ashraf; Timothy Beukelman; Valerie Pruneta-Deloche; David R Kelly; Abhimanyu Garg |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-31 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: - ISSN: 1945-7197 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-9-1 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Division of Pediatric Endocrinology (A.P.A.), Children's Hospital, and Division of Rheumatology (T.B.) and Department of Pathology (D.R.K.), University of Alabama at Birmingham, Birmingham, Alabama 35294; Unité Mixte de Recherché (V.P.-D.) Lyon University, Institut National des Sciences Appliquées de Lyon, CarMeN Laboratory, Institut National de la Santé et de la Recherche Médicale Unité 1060, Université Lyon-1, F-69621 Villeurbanne, France; and Division of Nutrition and Metabolic Diseases (A.G.), Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75390. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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