Tangier disease
Tangier disease is a rare genetic disorder that affects the body's ability to transport cholesterol. It is caused by mutations in the ABCA1 gene, which plays a crucial role in the formation of high-density lipoprotein (HDL) cholesterol, often referred to as "good" cholesterol. Individuals with Tangier disease typically have very low levels of HDL cholesterol, leading to an increased risk of cardiovascular issues.
Symptoms of Tangier disease can include enlarged tonsils, orange-colored tonsils, and peripheral neuropathy. The condition is often diagnosed through blood tests that reveal low HDL levels and genetic testing to confirm mutations in the ABCA1 gene. Management focuses on monitoring cardiovascular health and addressing any symptoms that arise.