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.

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A low-fat diet can reduce some of the symptoms, especially those involving neuropathies. ABC1 codes for a protein that helps rid cells of excess cholesterol. In he traveled with Dr. Clinical and biochemical characteristics of a new case of Tangier disease in Dr. People with Tangier disease have defective ABCA1 transporters [7] resulting in a greatly reduced ability to transport cholesterol out of their cells, which leads to an accumulation of cholesterol and phospholipids in many body tissues, which can cause them to increase in size.

Enfermedad de Tangier

Services of Digestive Diseases and 1Pathology. Louis Avioli at the National Cancer Institute. The duodenum showed no alterations. In other projects Wikimedia Commons. Additionally, the buildup of cholesterol in cells can be toxic, causing cell death or impaired function. Hepatosplenomegaly enlarged liver and spleen is common.

Neuropathy and cardiovascular disease are the most devastating developments caused by Tangier’s disease. Genes and Disease [Internet].

Orange tonsils, hepatosplenomegaly, and peripheral neuropathy are usual manifestations 3. This is an unknown, rare disease with approximately one hundred cases reported in our country 2,3. A gastric endoscopy showed numerous tiny white-yellowish injuries at the antral mucosa Fig. Discussion Tangier disease is a disorder of lipid metabolism that was first described in Study of the first case in Spain. Colonic mucosal appearance of Tangier disease in a new patient. Research articles online full text Books online books section OMIM catalog of human genes and disorders.


It is transmitted in a recessive manner. Clear Turn Off Turn On. From Wikipedia, the free encyclopedia. Tangier disease – Genes and Disease.

Please help improve this article by adding citations to reliable sources. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen.

Enfermedad de Tangier: apariencia gástrica endoscópica

After finding the same symptom in Teddy’s sister and investigation revealing an extremely high number of foam cells cholesterol ester-laden macrophages in not only the tonsils but a wide range of tissues including the bone marrow and spleen, a second trip to the island was made and the discovery was made of very low HDL cholesterol in both the sister and parents of Teddy, evidence for a genetic basis of the disease.

Severe HDL deficiency in the blood originates cholesterol deposition in both reticuloendothelial and Schwann cells 4. Andrews’ Diseases of the Skin: Therefore, the only current treatment modality for Tangier’s disease is diet modification.

Lecithin cholesterol acyltransferase deficiency Tangier disease. Such an absence, while unusual, has been previously described 5. Ann Intern Med ; The underlying molecular defect is poorly understood, although apolipoprotein A-I catabolism is increased. Homozygous Tangier disease and cardiovascular disease.


This is a good illustration of how research into rare diseases can sometimes help more common disorders. National Center for Biotechnology InformationU.

No weight loss was present.

Tangier disease TD is a genetic disorder of cholesterol transport named for the secluded enfeermedad of Tangier, located off the coast of Virginia. 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.

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Tangier disease – Wikipedia

This page was last edited on 22 Decemberat These subjects have very low plasma cholesterol levels and their HDL is frequently undetectable 1.

The physical exploration was normal.

A year-old male was diagnosed with Tangier disease. Views Read Ed View history. Pathology of Tangier disease. Individuals that are homozygotes for Tangier’s disease develop various cholesterol ester depositions. Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease. Triglycerides are usually normal or mildly elevated.

Med Clin Barc ; 9: Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.