Tangier DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Tangier Disease
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. Because people with Tangier disease have very low levels of HDL, they have a moderately increased risk of cardiovascular disease.
Variants (also called mutations) in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL. HDL then transports cholesterol and phospholipids to the liver.
Tangier disease is a rare disorder, with approximately 100 cases identified worldwide. More cases are likely undiagnosed. This condition is named after an island off the coast of Virginia where the first affected individuals were identified.
Tangier disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition; however, they may have a related condition called familial HDL deficiency.
Texas Health Family Care
Richard Townsend is a primary care provider, practicing in General Practice in Richardson, Texas. Dr. Townsend is rated as an Advanced provider by MediFind in the treatment of Tangier Disease. He is also highly rated in 26 other conditions, according to our data. His clinical expertise encompasses Vitamin D Deficiency, Gilbert Syndrome, High Cholesterol, and Nephrosclerosis.
Mariarita Puntoni practices practicing medicine in Pisa, Italy. Puntoni is rated as an Elite expert by MediFind in the treatment of Tangier Disease. They are also highly rated in 6 other conditions, according to our data. Their clinical expertise encompasses Tangier Disease, Hypolipoproteinemia, Atherosclerosis, and High Cholesterol.
Penn Heart And Vascular Center
Daniel Rader is a primary care provider, a Cardiologist and a Medical Genetics provider in Philadelphia, Pennsylvania. Dr. Rader is rated as an Elite provider by MediFind in the treatment of Tangier Disease. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Familial Hypercholesterolemia, Homozygous Familial Hypercholesterolemia (HoFH), Coronary Heart Disease, and Heart Transplant. Dr. Rader is board certified in Internal Medicine, 1987. Dr. Rader is currently accepting new patients.
Published Date: October 30, 2023
Published By: National Institutes of Health