TANGIER DISEASE Meaning and
Definition
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Tangier disease, also known as Tangier Island disease or familial HDL deficiency, is a rare inherited disorder characterized by low levels or complete absence of high-density lipoprotein (HDL) cholesterol in the blood. HDL cholesterol, often referred to as "good cholesterol," plays a crucial role in removing low-density lipoprotein (LDL) or "bad cholesterol" from the bloodstream, thus helping to prevent cholesterol deposition in arterial walls.
Individuals with Tangier disease typically exhibit a yellow-orange discoloration of various tissues, particularly the tonsils, spleen, and liver. This discoloration is caused by the accumulation of cholesterol-rich lipids, known as orange-yellow cholesterol ester-laden macrophages. The impairment in HDL cholesterol transport and metabolism leads to the accumulation of these macrophages in tissues, resulting in their characteristic appearance.
The inheritance pattern of Tangier disease is autosomal recessive, meaning that an affected individual must inherit a non-functioning gene for HDL cholesterol production from both parents. The disorder is caused by mutations in the gene ABCA1, which is responsible for the production of a protein involved in HDL cholesterol metabolism.
Tangier disease can lead to various health complications, including an increased risk of cardiovascular disease, such as heart attacks or strokes, due to the deposition of LDL cholesterol in arterial walls. Treatment mainly focuses on managing associated cardiovascular risks by implementing lifestyle changes, such as a heart-healthy diet, regular exercise, and potentially cholesterol-lowering medications.
In summary, Tangier disease is an extremely rare genetic disorder characterized by the absence or low levels of HDL cholesterol, resulting in the accumulation of cholesterol-rich macrophages in various tissues and presenting a yellow-orange discoloration.
Common Misspellings for TANGIER DISEASE
- rangier disease
- fangier disease
- gangier disease
- yangier disease
- 6angier disease
- 5angier disease
- tzngier disease
- tsngier disease
- twngier disease
- tqngier disease
- tabgier disease
- tamgier disease
- tajgier disease
- tahgier disease
- tanfier disease
- tanvier disease
- tanbier disease
- tanhier disease
- tanyier disease
- tantier disease
Etymology of TANGIER DISEASE
The term "Tangier disease" is named after the city of Tangier in Morocco, where the condition was first described in the 1950s. The official name for the disease is "Familial Apolipoprotein A-I Deficiency", but it is commonly referred to as Tangier disease due to its identification in the Tangier population. The condition is characterized by a deficiency of high-density lipoprotein (HDL) cholesterol, which results in the accumulation of cholesterol esters in various tissues of the body.
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