February 18, 2021


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.

Author: Digore Zushakar
Country: Bahrain
Language: English (Spanish)
Genre: Marketing
Published (Last): 4 August 2016
Pages: 430
PDF File Size: 17.98 Mb
ePub File Size: 16.34 Mb
ISBN: 624-1-22670-282-1
Downloads: 59141
Price: Free* [*Free Regsitration Required]
Uploader: Kagabei

Other signs of this condition may include an enlarged spleen splenomegalyan enlarged liver hepatomegalyclouding of the corneaand early-onset cardiovascular disease.

Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. D and biochemical characteristics of a new case of Tangier disease in Spain.

One article reported on the endoscopic appearance of the rectal mucosa 5but we found no literature references regarding the appearance of the gastric mucosa. Eenfermedad duodenum showed no alterations. Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease.

While these drugs are useful for patients with hyperlipidemiaTangier’s disease patients do not benefit from these pharmaceutical tamgier. Turn recording back on.

Enfermedad de Tangier – Wikipedia, la enciclopedia libre

Ann Intern Med ; Our patient, who was diagnosed with Tangier disease based on lipid metabolism testing, had no orange tonsils. Lecithin cholesterol acyltransferase deficiency Enfrmedad disease. Tangier disease is a disorder of lipid metabolism that was first described in Research articles online full text Books online books section OMIM catalog of human genes and disorders.


Lipid metabolism disorders Autosomal recessive disorders Membrane transport protein disorders Skin conditions resulting from errors in metabolism Rare diseases. Tangier disease results in familial high-density lipoprotein deficiency. Tangier disease also known as Familial alpha-lipoprotein deficiency [1]: 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.

Please review our privacy policy.

Enfermedad de Tangier

Andrews’ Diseases of the Skin: Homozygous Tangier disease and cardiovascular disease. D ICD – Articles needing additional references from December All articles needing additional references Infobox medical condition new. Individuals that are homozygotes for Tangier’s disease develop various cholesterol ester depositions. Services of Digestive Diseases and 1Pathology.

Tangier disease – Genes and Disease – NCBI Bookshelf

Clear Turn Off Turn On. People affected by this condition also enfermedaf slightly elevated amounts of fat in the blood mild hypertriglyceridemia and disturbances in nerve function neuropathy.

The tonsils are visibly affected by this disorder; they frequently appear orange or yellow and are extremely enlarged. These mutations prevent the ABCA1 protein from effectively transporting cholesterol and phospholipids out of cells for pickup by ApoA1 in the bloodstream.

Tangier disease

Please help improve this article by adding citations to reliable sources. The underlying molecular defect is poorly understood, although apolipoprotein A-I catabolism tanbier increased. The cholesterol and phospholipids used to form HDL originate from inside cells but are transported out of the cell into the blood via the ABCA1 transporter.


Retrieved from ” https: The evolution was satisfactory, and the bowel habit regressed to normal with no need for medication. The cholesterol esters may also be found in lymph nodes, bone marrow, the liver and spleen.

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 enfermexad Teddy, evidence for a genetic basis of the disease.

Related diseases See other Diseases of the Nervous System. A low-fat diet can reduce some of the symptoms, especially those involving neuropathies. Such an absence, while unusual, has been previously described 5. Gastric mucosa appearance in a patient with Tangier disease.

Due to the cholesterol ester depositions the tonsils may be enlarged. Endoscopic findings as seen in our patient reflect a likely relationship to Tangier disease.