This article will be permanently flagged as inappropriate and made unaccessible to everyone. Are you certain this article is inappropriate? Excessive Violence Sexual Content Political / Social
Email Address:
Article Id: WHEBN0022992227 Reproduction Date:
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 LDL, cholesterol, and triglyceride levels, and decreased HDL levels.[2]:534
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]
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 know as remnants, and therefore leads to accumulation of their content - triglycerides and cholesterol, especially in the form of LDL.
: MET
, , /////, /////, /, ,
, //, /////, , , ,
m (A16/), i (, /////, ////, /, , )
Gallbladder, Bile, Thoracic diaphragm, Bone marrow, Liver sinusoid
YouTube, Familial hypercholesterolemia, Medical Subject Headings, Inborn error of metabolism, Omim
Cancer, Inborn errors of carbohydrate metabolism, Glucose, Metabolism, Gene
Medicine, Psychiatry, Internet, Emergency medicine, Dentistry
GTP-binding protein regulators, Sar1b, Inborn error of metabolism, Kras, Noonan syndrome
International Statistical Classification of Diseases and Related Health Problems, Icd-10, Medical Subject Headings, Malnutrition, Vitamin E
Icd-10, Medical Subject Headings, Familial apoprotein CII deficiency, Inborn error of metabolism, International Statistical Classification of Diseases and Related Health Problems
Inheritance, International Statistical Classification of Diseases and Related Health Problems, Icd-10, Omim, EMedicine