KEGG   DISEASE: 原発性高カイロミクロン血症
エントリ  
H01784                                                             
名称    
原発性高カイロミクロン血症
  下位グループ
高リポタンパク血症 I 型 [DS:H00154]
高リポタンパク血症 V 型 [DS:H00157]
  上位グループ
脂質異常症 [DS:H01635]
概要    
Primary hyperchylomicronemia is characterized by a marked hypertriglyceridemia due to the accumulation of chylomicron. The main clinical symptoms of this disorder are a huge increase in plasma triglyceride and cholesterol, and the presence of xanthomatous eruption, lipemia retinalis, hepatosplenomegaly, and the complication of acute pancreatitis. The genetic basis for primary hyperchylomicronemia is heterogeneous. Familial chylomicronemia (known as Fredrickson's classification of type 1 hyperlipoproteinemia) [DS:H00154] is a clinical condition showing the severest hypertriglyceridemia and is classically represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating inhibitors of lipoprotein lipase and the presence of autoantibodies also cause type 1 hyperlipoproteinemia. More recently, patients with primary hyperchylomicronemia caused by mutations in the gene for glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) or lipase maturation factor 1 (LMF1) were found. By contrast, the more commonly encountered polygenic chylomicronemia of adulthood, referred to as mixed dyslipidemia (known as type 5 hyperlipoproteinemia) [DS:H00157], can present later in life and is characterized by increased levels of hepatically derived triglyceride-rich lipoproteins and triglyceride-rich remnant particles together with reduced levels of HDL cholesterol.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   リポタンパク質代謝疾患または脂質血症
    5C80  高リポタンパク血症
     H01784  原発性高カイロミクロン血症
指定難病 [jp08407.html]
 H01784
パスウェイ 
hsa04979  Cholesterol metabolism
hsa00561  Glycerolipid metabolism
病因遺伝子 
LPL [HSA:4023] [KO:K01059]
APOC2 [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
LMF1 [HSA:64788] [KO:K23555]
APOA5 [HSA:116519] [KO:K09025]
リンク   
ICD-11: 5C80.1
MeSH: D006954 D008072
OMIM: 238600 207750 615947 246650 144650
文献    
PMID:22129523 (LPL, APOC2, GPIHBP1, LMF1)
  著者
Gotoda T, Shirai K, Ohta T, Kobayashi J, Yokoyama S, Oikawa S, Bujo H, Ishibashi S, Arai H, Yamashita S, Harada-Shiba M, Eto M, Hayashi T, Sone H, Suzuki H, Yamada N
  タイトル
Diagnosis and management of type I and type V hyperlipoproteinemia.
  雑誌
J Atheroscler Thromb 19:1-12 (2012)
DOI:10.5551/jat.10702
文献    
PMID:25732519 (APOC2, GPIHBP1, LMF1, APOA5)
  著者
Brahm AJ, Hegele RA
  タイトル
Chylomicronaemia--current diagnosis and future therapies.
  雑誌
Nat Rev Endocrinol 11:352-62 (2015)
DOI:10.1038/nrendo.2015.26
文献    
  著者
Yamashita S
  タイトル
[Primary hyperchylomicronemia].
  雑誌
Nihon Rinsho 71:1578-83 (2013)
文献    
  著者
Iwasaki M, Tada N
  タイトル
[Primary hyperchylomicronemia and gene defects].
  雑誌
Nihon Rinsho 57:2759-64 (1999)
LinkDB    

» English version

DBGET integrated database retrieval system