chylomicronemia syndrome

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/07/29 02:22:43」(JST)

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Lipoprotein lipase deficiency
Classification and external resources
ICD-10	E78
OMIM	238600
DiseasesDB	4697
MedlinePlus	000408
MeSH	D008072
GeneReviews	Familial Lipoprotein Lipase Deficiency

Lipoprotein lipase deficiency (also known as "familial chylomicronemia syndrome", "chylomicronemia", "chylomicronemia syndrome" and "hyperlipoproteinemia type Ia") is caused by a mutation in the gene which codes lipoprotein lipase. As a result, afflicted individuals lack the ability to produce lipoprotein lipase enzymes necessary for effective breakdown of fatty acids.

Incidence

The disorder affects about 1 out of 1,000,000 people.

Treatment

In 2012, the European Commission gave Glybera market authorization to sell a gene therapy treatment for chylomicronemia.

Patient empowerment

In October 2012, 3 officially recognised patient groups (Heart UK, CholCo & Association Pancréatites Chroniques) joined together to launch an international online patient community for Lipoprotein Lipase Deficiency on the RareConnect.org platform.

See also

• Primary hyperlipoproteinemia
• Familial apoprotein CII deficiency
• List of cutaneous conditions

References

External Links

• FCS Connect is the online resource for people with Familial Chylomicronemia Syndrome, Hyperlipoproteinemia type 1, Chylomicronemia syndrome, Lipoprotein lipase deficiency to share medical histories with researchers in pursuit of treatments and to learn from others with the same disease.

• Familial Chylomicronemia Syndrome is an online educational initiative to provide clinicians with peer reviewed information on how to diagnose and treat patients with familial chylomicronemia syndrome (FCS) [also known as hyperlipoproteinemia type 1 or lipoprotein lipase deficiency].

UpToDate Contents

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• 1. 高トリグリセリド血症患者に対するアプローチ approach to the patient with hypertriglyceridemia
• 2. 高トリグリセリド血症による急性膵炎 hypertriglyceridemia induced acute pancreatitis
• 3. HDLコレステロール：異常値の臨床的側面 hdl cholesterol clinical aspects of abnormal values

English Journal

• Indications for apheresis as an ultima ratio treatment of refractory hyperlipidemias.

• Grützmacher P1, Kleinert C, Dorbath C, Öhm B.
• Clinical research in cardiology supplements.Clin Res Cardiol Suppl.2015 Apr;10(Supplement 1):2-7.
• Lipid apheresis is at present well established in routine treatment of diverse hyperlipoproteinemias refractory to conventional dietary and medical regimens, especially in countries with high medical and socioeconomic standards. Severe familial hypercholesterolemia with atherosclerotic vessel diseas
• PMID 25686595

• Effect of Hepatic Impairment on the Pharmacokinetics of Pradigastat, a Diacylglycerol Acyltransferase 1 (DGAT1) Inhibitor.

• Hirano M1, Meyers D, Golla G, Pal P, Pinot P, Lin T, Majumdar T, Rebello S, Sunkara G, Chen J.
• Clinical pharmacokinetics.Clin Pharmacokinet.2015 Jan 30. [Epub ahead of print]
• BACKGROUND AND OBJECTIVE: Pradigastat, a novel diacylglycerol acyltransferase 1 inhibitor, is under development to treat familial chylomicronemia syndrome. The potential impact of hepatic impairment on the pharmacokinetics of pradigastat was evaluated in this study.METHODS: In this study, a single o
• PMID 25633714

Japanese Journal

• The familial chylomicronemia syndrome

• Endocrinol Metab Clin North Am. 27, 551-567, 1998
• NAID 30016981081

• Ｃｈｙｌｏｍｉｃｒｏｎｅｍｉａ　ｓｙｎｄｒｏｍｅを伴ったインスリン依存型糖尿病の１例

• 糖尿病 35(9), 779-785, 1992
• NAID 130004338004

• 高カイロミクロン血症を呈したリポ蛋白リパーゼ欠損症のヘテロ接合体

• 動脈硬化 18(6), 671-676, 1990
• NAID 130004884113

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「syndrome」

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• n.

• 症候群