Tangier Disease

Dear Visitors,

Were really sorry about the short information but-there wasn't many information out there that can provide you and your family the information you need. The information we do have for you is very helpful so please bare with us. Please keep checking back to see if we have posted more information on this rare disease.

What is Tangier Disease:

Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high-density lipoprotein (HDL), often referred to as "good cholesterol," in the bloodstream. High-density lipoproteins are created when a type of protein in the bloodstream, apolipoprotein A1 (apoA1), picks up cholesterol from the cells. People with Tangier disease have a greatly reduced ability to transport cholesterol out of their cells, leading to a deficiency of high-density lipoproteins in the bloodstream and the accumulation of cholesterol in many body tissues. Reduced blood levels of high-density lipoproteins is sometimes described as hypolipoproteinemia.

People affected by this condition also have 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. Affected people often develop premature atherosclerosis, which is characterized by fatty deposits and scar-like tissue lining the arteries. Other signs of this condition may include an enlarged spleen (splenomegaly), an enlarged liver (hepatomegaly), clouding of the clear covering of the eye (cornea), and early-onset cardiovascular disease.
 

How common is Tangier Disease:

Tangier disease is a rare disorder with approximately 50 cases identified worldwide. This disorder was originally discovered on Tangier Island off the coast of Virginia, but has now been identified in people from many different countries.

How do people inherit Tangier Disease:

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Others Names people use to classify Tangier Disease:

• A-alphalipoprotein Neuropathy
• alpha High Density Lipoprotein Deficiency Disease
• Analphalipoproteinemia
• Cholesterol thesaurismosis
• Familial High Density Lipoprotein Deficiency Disease
• Familial Hypoalphalipoproteinemia
• HDL Lipoprotein Deficiency Disease
• Lipoprotein Deficiency Disease, HDL, Familial
• Tangier Disease Neuropathy
• Tangier Hereditary Neuropathy