Tangier Disease is a rare inherited disorder that affects the body's ability to transport and process cholesterol. It is caused by a mutation in the ABCA1 gene, which is responsible for producing a protein that helps transport cholesterol from the liver to other parts of the body. People with Tangier Disease have abnormally low levels of high-density lipoprotein (HDL) cholesterol, which can lead to an increased risk of heart disease. Symptoms of Tangier Disease include yellowish-orange bumps on the skin, enlarged tonsils, and an enlarged liver and spleen.

The primary symptom of Tangier Disease is the accumulation of cholesterol and other lipids in the cells of the reticuloendothelial system, which includes the spleen, liver, and lymph nodes. This accumulation can lead to enlargement of the spleen and liver, as well as anemia, jaundice, and other symptoms. Other symptoms may include:

-Fatigue

-Abdominal pain

-Weight loss

-Enlarged lymph nodes

-High cholesterol levels

-Impaired vision

-Impaired hearing

-Impaired balance

-Impaired coordination

-Impaired speech

-Impaired memory

-Impaired concentration

-Impaired judgment

-Depression

-Anxiety

-Skin discoloration

-En

Tangier Disease is caused by a genetic mutation in the ABCA1 gene. This gene is responsible for producing a protein that helps transport cholesterol and other fats out of cells. When the gene is mutated, the protein is not produced, leading to a buildup of cholesterol and other fats in the cells. This can lead to a variety of health problems, including high cholesterol, heart disease, and peripheral neuropathy.

The primary treatment for Tangier Disease is a high-fat, low-cholesterol diet. This diet helps to reduce the amount of cholesterol in the blood and can help to reduce the risk of developing complications from the disease. Other treatments may include medications to reduce cholesterol levels, such as statins, bile acid sequestrants, and niacin. In some cases, a liver transplant may be necessary.

The primary risk factor for Tangier Disease is having a mutation in the ABCA1 gene. This gene is responsible for producing a protein that helps transport cholesterol and other fats out of cells. Other risk factors include having a family history of Tangier Disease, being of Northern European descent, and having a diet high in cholesterol.

At this time, there is no cure for Tangier Disease. However, medications such as cholesterol-lowering drugs, omega-3 fatty acid supplements, and vitamin C supplements may be used to help manage the symptoms.