Tangier Disease is a rare genetic disorder characterized by the deficiency of a protein called high-density lipoprotein (HDL). It is inherited in an autosomal recessive pattern, meaning that both parents must carry a mutated gene for the disease to be passed on to their children. Individuals with Tangier Disease have a higher risk of developing cardiovascular problems. Genetic counseling is recommended for families with a history of Tangier Disease to understand the risk of inheritance.
Tangier Disease is a rare genetic disorder that affects the body's ability to transport cholesterol and other fats. It is named after Tangier Island in the Chesapeake Bay, where the disease was first identified.
The disease is caused by mutations in the ABCA1 gene, which is responsible for producing a protein that helps remove cholesterol from cells and transport it to the liver for processing. When this gene is mutated, the protein is not produced correctly, leading to a buildup of cholesterol and other fats in various tissues and organs.
Tangier Disease is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. If an individual inherits only one copy of the mutated gene, they are considered carriers and do not typically show symptoms of the disease.
Because Tangier Disease is a genetic disorder, there is a risk of passing it on to future generations. If both parents are carriers of the mutated gene, each child has a 25% chance of inheriting two copies of the gene and developing the disease. Genetic testing can be done to determine carrier status and assess the risk of passing on the disease.
It is important for individuals with a family history of Tangier Disease to consult with a genetic counselor or healthcare provider for personalized information and guidance. They can provide detailed information about the inheritance pattern and discuss options for genetic testing and family planning.