家族性異常βリポ蛋白血症, FDBL
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/03 17:33:03」(JST)
[Wiki en表示]
| Familial dysbetalipoproteinemia |
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Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
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| Classification and external resources |
| OMIM |
107741 |
| MedlinePlus |
000402 |
Familial dysbetalipoproteinemia or type III hyperlipoproteinemia (also known as "remnant hyperlipidemia", "remnant hyperlipoproteinaemia", "broad beta disease"[1] and "remnant removal disease"[1]) is a condition characterized by increased total cholesterol and triglyceride levels, and decreased HDL levels.[2]:534
Contents
- 1 Signs and symptoms
- 2 Causes
- 3 See also
- 4 References
Signs and symptoms
Signs of familial dysbetaproteinemia include xanthoma striatum palmare (orange or yellow discoloration of the palms) and tuberoeruptive xanthomas over the elbows and knees. The disease leads to premature atherosclerosis and therefore a possible early onset of coronary artery disease and peripheral vascular disease leading to a heart attack, i.e. myocardial infarction, chest pain on exercise, i.e. angina pectoris or stroke in young adults or middle aged patients.[3]
Causes
This condition is caused by a mutation in apolipoprotein E (ApoE), that serves as a ligand for the liver receptors for chylomicrons, IDL and VLDL or Very Low Density lipoprotein receptors. The normal ApoE turns into the defective ApoE2 form due to a genetic mutation.[4] This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise known as remnants, and therefore leads to accumulation of cholesterol within scavenger cells (macrophages) to enhance development and acceleration of atherosclerosis.
See also
- Primary hyperlipoproteinemia
- Apolipoprotein B deficiency
- List of cutaneous conditions
References
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
- ^ Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap 47.
- ^ http://ghr.nlm.nih.gov/gene/APOE
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Inborn error of lipid metabolism: dyslipidemia (E78, 272.0–272.6)
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| Hyperlipidemia |
- Hypercholesterolemia/Hypertriglyceridemia
- Lipoprotein lipase deficiency/Type Ia
- Familial apoprotein CII deficiency/Type Ib
- Familial hypercholesterolemia/Type IIa
- Combined hyperlipidemia/Type IIb
- Familial dysbetalipoproteinemia/Type III
- Familial hypertriglyceridemia/Type IV
- Xanthoma/Xanthomatosis
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| Hypolipoproteinemia |
| Hypoalphalipoproteinemia/HDL |
- Lecithin cholesterol acyltransferase deficiency
- Tangier disease
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| Hypobetalipoproteinemia/LDL |
- Abetalipoproteinemia
- Apolipoprotein B deficiency
- Chylomicron retention disease
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| Lipodystrophy |
- Barraquer–Simons syndrome
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| Other |
- Lipomatosis
- Adiposis dolorosa
- Lipoid proteinosis
- APOA1 familial renal amyloidosis
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Index of inborn errors of metabolism
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| Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- phospholipid
- cholesterol and steroid
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- nucleotide
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| Disorders |
- Citric acid cycle and electron transport chain
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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| Treatment |
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UpToDate Contents
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English Journal
- Update on the molecular biology of dyslipidemias.
- Ramasamy I1.
- Clinica chimica acta; international journal of clinical chemistry.Clin Chim Acta.2016 Feb 15;454:143-85. doi: 10.1016/j.cca.2015.10.033. Epub 2015 Nov 4.
- Dyslipidemia is a commonly encountered clinical condition and is an important determinant of cardiovascular disease. Although secondary factors play a role in clinical expression, dyslipidemias have a strong genetic component. Familial hypercholesterolemia is usually due to loss-of-function mutation
- PMID 26546829
- A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.
- Zimmermann A1, Rossmann H2, Bucerzan S3, Grigorescu-Sido P3.
- Case reports in genetics.Case Rep Genet.2016;2016:8154910. doi: 10.1155/2016/8154910. Epub 2016 Jan 17.
- Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3
- PMID 26885414
- Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy.
- Takasaki S1, Maeda K2, Joh K3, Yamakage S4, Fukase S4, Takahashi T4, Suzuki M4, Matsunaga A5, Saito T6.
- Case reports in nephrology and dialysis.Case Rep Nephrol Dial.2015 Dec 15;5(3):204-12. doi: 10.1159/000441715.
- Lipoprotein glomerulopathy (LPG) is characterized by histopathological features showing intra-glomerular lipoprotein thrombi and type III hyperlipoproteinemia (HLP), with heterozygote mutation of apolipoprotein (apo) E gene. On the other hand, as another renal lipidosis with type III HLP, apoE2 homo
- PMID 26955632
Japanese Journal
- Metabolism of apolipoproteins in patients with familial dysbetalipoproteinemia.
- Remnants of lipoproteins of intestinal and hepatic origin in familial dysbetalipoproteinemia
- Isoprotein specificity in the hepatic uptake of apoprotein E and the pathogenesis of familial dysbetalipoproteinemia
Related Links
- dysbetalipoproteinemia /dys·be·ta·lipo·pro·tein·emia/ (-ba″tah-lip″o-pro″te-ne´me-ah) 1. the accumulation of abnormal β-lipoproteins in the blood. 2. familial dysbetalipoproteinemia. familial dysbetalipoproteinemia an inherited disorder of ...
- Familial dysbetalipoproteinemia is a disorder passed down through families in which there are high amounts of cholesterol and triglycerides in the blood. ... A.D.A.M., Inc. is accredited by URAC, also known as the ...
★リンクテーブル★
[★]
- 英
- familial dysbetalipoproteinemia, FDBL
- 関
- 家族性高リポ蛋白血症III型
[★]
- 同
- familial dysbetalipoproteinemia
[★]
- 関
- family、family member、household、kindred