Abstract
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66:286-288).
© 2017 by the American Association for the Study of Liver Diseases.
MeSH terms
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Biopsy, Needle
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Calcium-Binding Proteins / genetics*
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Cholangiography / methods
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Cholangitis, Sclerosing / diagnostic imaging
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Cholangitis, Sclerosing / genetics*
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Cholangitis, Sclerosing / pathology
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Cholestasis / diagnostic imaging*
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Cholestasis / therapy
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Genetic Predisposition to Disease*
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Humans
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Immunohistochemistry
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Lymphedema / diagnostic imaging*
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Lymphedema / therapy
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Magnetic Resonance Imaging / methods
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Middle Aged
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Mutation
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Rare Diseases
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Recurrence
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Severity of Illness Index
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Tumor Suppressor Proteins / genetics*
Substances
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CCBE1 protein, human
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Calcium-Binding Proteins
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Tumor Suppressor Proteins