Identifying suspected familial chylomicronemia syndrome

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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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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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Two Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment

There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age. Due to high tr...

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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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ژورنال

عنوان ژورنال: Baylor University Medical Center Proceedings

سال: 2018

ISSN: 0899-8280,1525-3252

DOI: 10.1080/08998280.2018.1463784