Two siblings with familial hyperchylomicronemis syndrome: disease presentation and diagnosis -
International Journal of Contemporary Pediatrics(2016)
摘要
Familial hyperchylomicronemic syndrome (FHS), Fat induced pancreatitis, Type 1 hyperlipoprotenemia (HPL) or exogenous hyperlipemia is a rare autosomal recessive disorder of lipoprotein metabolism ,with a prevalence of 1 in 1 million, it occurs due to congenital deficiency of lipoprotein lipase (LPL), congenital deficiency of apo-protein C-II, or the presence of LPL inhibitor (e.g., an anti-LPL autoantibody). This article reports 2 siblings: a male patient aged 7 years and a female aged 4 years with hyperchylmicronomic syndrome each had a different presentation of the same disease. The male presented with recurrent attacks of acute pancreatitis along with failure to thrive while his sister was asymptomatic.
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关键词
familial hyperchylomicronemis syndrome,diagnosis,siblings,disease
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