A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Tangier disease. Tangier Disease Neuropathy – High-Density Lipoprotein Deficiency, Tangier Type – High-Density Neuropatia de Enfermedad Tangier – Neuropatía de. PDF | On Jan 1, , Juan Gómez Gerique and others published La enfermedad de Tangier.
|Published (Last):||8 July 2013|
|PDF File Size:||10.55 Mb|
|ePub File Size:||10.12 Mb|
|Price:||Free* [*Free Regsitration Required]|
Med Clin Barc ; 93 8: National Institute of Health. Tangier disease – Genes and Disease.
Neuropathy and cardiovascular disease are the most devastating developments caused by Tangier’s disease. This is an unknown, rare disease with approximately one hundred cases reported in our country 2,3. ABC1 codes for a protein that helps rid cells of excess cholesterol.
The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen. Our patient, who was diagnosed with Tangier disease based on lipid metabolism testing, had no orange tonsils. National Center for Biotechnology InformationU.
A low-fat diet can reduce some of tanier symptoms, especially those involving neuropathies. Med Clin Barc ; 9: New drugs that regulate HDL levels may tzngier developed and such drugs would not only help individuals with TD, but also people with more common disorders such as familial HDL deficiency.
This page was last edited on 22 Decemberat Individuals that are homozygotes for Tangier’s disease develop various enfdrmedad ester depositions. Colonic mucosal appearance of Tangier disease in a new patient. No weight loss was present.
Individuals with TD are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs. Due to the cholesterol ester depositions the tonsils may be enlarged. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream.
Study of the first case in Spain.
This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor for coronary artery disease. Genes and Disease [Internet]. Homozygous Tangier disease and cardiovascular disease. Views Read Edit View history.
Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease. Support Center Support Center.
Enfermedad de Tangier – Wikipedia, la enciclopedia libre
This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. The evolution was satisfactory, and the bowel habit regressed to normal with no need for medication. J Clin Pathol ; 24 7: Hepatosplenomegaly enlarged liver and spleen is common. Articles needing additional references from December All articles needing additional references Infobox medical condition new.
Gastrointest Endosc ; 40 5: High-density lipoproteins are created when a protein in the bloodstream, Apolipoprotein A1 apoA1combines with cholesterol and phospholipids.