Abstract
Familial chylomicronemia (type I hyperlipoproteinemia) is a rare genetic disease due to the absence of the lipoprotein lipase activity. This genetic error involves either the extrahepatic lipoprotein lipase (lipoprotein lipase deficiency) or its obligatory co-factor, i.e. the apoprotein C-II (apo C-II deficiency). The clinical features of this disease, wich is usually diagnosed in infancy or childood, are hepatosplenomegaly, recurrent abdominal pain, pancreatitis, eruptive xanthomata and lipemia retinalis.
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© 1987 MTP Press Limited
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Crepaldi, G. et al. (1987). Clinical aspects of lipoprotein disorders. In: Lenzi, S., Descovich, G.C. (eds) Atherosclerosis and Cardiovascular Diseases. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-3205-0_12
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DOI: https://doi.org/10.1007/978-94-009-3205-0_12
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-010-7938-9
Online ISBN: 978-94-009-3205-0
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