Familial Chylomicronemia Syndrome: A Pink Blood Conundrum

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Two Case Reports of Familial Chylomicronemia Syndrome

Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.

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Familial Chylomicronemia Reported in a Ten Days Old Neonate

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. The authors report a neonate affected by familial hyperchylomicronemia, While being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. Based on this very abnormal lipid profile...

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An interesting case of familial chylomicronemia syndrome in a cleft palate child

Familial chylomicronemia syndrome is a very rare condition with an incidence of one in one million. We report such a condition detected incidentally in a cleft child.

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Familial chylomicronemia in a nine months old infant.

Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicrons levels. We report a rare case of familial chylomicronemia in a ...

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Recurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome.

The chylomicronemia syndrome is well recognized as a rare etiologic factor of acute pancreatitis; however, whether hypertriglyceridemia can cause chronic pancreatitis (CP) remains unclear. We describe the long-time course of 2 brothers with the familial chylomicronemia syndrome caused by identical compound heterozygous mutations in the lipoprotein lipase (LPL) gene with markedly reduced LPL act...

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ژورنال

عنوان ژورنال: Journal of Medical Cases

سال: 2019

ISSN: 1923-4155,1923-4163

DOI: 10.14740/jmc3389