A case of severe acquired hypertriglyceridemia in a 7-year-old girl

Jessica S. Lilley, MacRae F. Linton, Jennifer C. Kelley, T. Brent Graham, Sergio Fazio, Hagai Tavori

    Research output: Research - peer-reviewArticle

    Abstract

    We report a case of severe type I hyperlipoproteinemia caused by autoimmunity against lipoprotein lipase (LPL) in the context of presymptomatic Sjögren's syndrome. A 7-year-old mixed race (Caucasian/African American) girl was admitted to the intensive care unit at Vanderbilt Children's Hospital with acute pancreatitis and shock. She was previously healthy aside from asthma and history of Hashimoto's thyroiditis. Admission triglycerides (TGs) were 2191 mg/dL but returned to normal during the hospital stay and in the absence of food intake. At discharge, she was placed on a low-fat, low-sugar diet. She did not respond to fibrates, prescription fish oil, metformin, or orlistat, and during the following 2 years, she was hospitalized several times with recurrent pancreatitis. Except for a heterozygous mutation in the promoter region of LPL, predicted to have no clinical significance, she had no further mutations in genes known to affect TG metabolism and to cause inherited type I hyperlipoproteinemia, such as APOA5, APOC2, GPIHBP1, or LMF1. When her TG levels normalized after incidental use of prednisone, an autoimmune mechanism was suspected. Immunoblot analyses showed the presence of autoantibodies to LPL in the patient's plasma. Autoantibodies to LPL decreased by 37% while patient was on prednisone, and by 68% as she subsequently transitioned to hydroxychloroquine monotherapy. While on hydroxychloroquine, she underwent a supervised high-fat meal challenge and showed normal ability to metabolize TG. For the past 3 years and 6 months, she has had TG consistently <250 mg/dL, and no symptoms of, or readmissions for, pancreatitis.

    LanguageEnglish (US)
    JournalJournal of Clinical Lipidology
    DOIs
    StateAccepted/In press - 2017

    Fingerprint

    Hypertriglyceridemia
    Triglycerides
    Lipoprotein Lipase
    Pancreatitis
    Hyperlipoproteinemia Type I
    Hydroxychloroquine
    Prednisone
    Autoantibodies
    Mutation
    Fibric Acids
    Hashimoto Disease
    Fat-Restricted Diet
    Fish Oils
    Metformin
    Sjogren's Syndrome
    Autoimmunity
    Genetic Promoter Regions
    African Americans
    Prescriptions
    Intensive Care Units

    Keywords

    • Autoantibodies
    • Disease phenocopy
    • Hypertriglyceridemia
    • Immunosuppression
    • Lipid modulators
    • Lipoprotein lipase
    • Lupus
    • Pancreatitis
    • Sjögren's

    ASJC Scopus subject areas

    • Internal Medicine
    • Endocrinology, Diabetes and Metabolism
    • Nutrition and Dietetics
    • Cardiology and Cardiovascular Medicine

    Cite this

    A case of severe acquired hypertriglyceridemia in a 7-year-old girl. / Lilley, Jessica S.; Linton, MacRae F.; Kelley, Jennifer C.; Graham, T. Brent; Fazio, Sergio; Tavori, Hagai.

    In: Journal of Clinical Lipidology, 2017.

    Research output: Research - peer-reviewArticle

    Lilley, Jessica S. ; Linton, MacRae F. ; Kelley, Jennifer C. ; Graham, T. Brent ; Fazio, Sergio ; Tavori, Hagai. / A case of severe acquired hypertriglyceridemia in a 7-year-old girl. In: Journal of Clinical Lipidology. 2017
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