Diagnostic algorithm for familial chylomicronemia syndrome
نویسندگان
چکیده
منابع مشابه
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.
متن کاملFamilial 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...
متن کاملRecurrent 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...
متن کاملTwo 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...
متن کاملFamilial HCG syndrome: A diagnostic challenge
•This is a rare inheritable condition which results in raised total HCG levels.•Common causes of raised HCG need to be excluded prior to considering this syndrome.•A diagnosis can prevent unnecessary surgical or oncological treatment.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Atherosclerosis Supplements
سال: 2017
ISSN: 1567-5688
DOI: 10.1016/j.atherosclerosissup.2016.10.002