How is Tangier disease diagnosis?
Diagnosis of Tangier disease is achieved through clinical evaluation and can be confirmed through genetic testing involving the sequencing of the ABCA1 gene. HDL-C deficiency and an extremely low apolipoprotein A1 (ApoA1) level are typical diagnostic criteria.
Which protein is deficient in Tangier disease?
Tangier disease results in familial high-density lipoprotein deficiency. High-density lipoproteins are created when a protein in the bloodstream, Apolipoprotein A1 (apoA1), combines with cholesterol and phospholipids.
What is the biochemical defect in Tangier disease?
Tangier disease is an exceedingly rare autosomal recessive disease characterized by almost complete absence of HDL particles in plasma and by accumulation in tissues (in particular tissues of the reticuloendothelial system) of cholesterol esters, which is responsible for peripheral neuropathy, enlarged tonsils, and …
What is APOA1?
The APOA1 gene provides instructions for making a protein called apolipoprotein A-I (apoA-I). ApoA-I is a component of high-density lipoprotein (HDL). HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body’s tissues to the liver.
What is Tangier known for?
Tangier has been the summer site of the Moroccan royal residence since 1962. An important port and trade centre, the city has excellent road and rail connections with Fès, Meknès, Rabat, and Casablanca, as well as an international airport and regular shipping services to Europe.
What is Acanthocyte?
Acanthocytosis is a red cell phenotype associated with various underlying conditions. Acanthocytes (from the Greek word acantha, which means thorn), or spur cells, are spiculated red cells with a few projections of varying size and surface distribution (see the images below).
How does Tangier disease affect the cardiovascular system?
Tangier disease commonly affects the cardiovascular system and certain internal organs. In particular, fatty deposits can also form in other organs causing enlargement of the throat, liver, spleen, or lymph nodes. Fat accumulations in nerves can cause disturbances and loss-of-sensation called peripheral neuropathy.
How to treat peripheral edema in the legs?
Massage: Applying firm pressure to the affected area can help remove excess fluid. It also helps improve poor circulation in the legs. Movement: Exercises that target the legs can be helpful for decreasing swelling and providing relief to the affected area. Reduce salt intake: Salt causes the body to retain water, which can worsen this condition.
How did the Tangier disease get its name?
Tangier disease was originally named after the location in which it was first discovered – Tangier Island in the Chesapeake Bay. Later, the disease was further characterized as more individuals were found to have the disease in other areas of the United States and around the globe. Tangier disease is caused by mutations in the ABCA1 gene.
When do you know if you have Tangier disease?
Signs of Tangier disease may not be obvious at birth or in childhood. However, any child with yellow/orange tonsils should be checked for Tangier disease and monitored carefully for abnormalities in the blood. In addition to the problems noted above, roughly half of people with Tangier disease also develop neurological problems.