Two siblings with familial hyperchylomicronemis syndrome:disease presentation and diagnosis

Mona Ali Hassan, Mariam Anka, Sirin Mneimneh, Amal Naous, Mariam Rajab


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.


FHS, Recurrent pancreatitis, Lipoprotein lipase deficiency

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