Tangier disease
Case A 27 Y/O man with orange tonsils, hepatosplenomegaly, neuropathy PMH: NEGATIVE Lab: HDL is very low(<5) dxcase Tangier disease Tangier disease (TD) is an inherited condition that affects the body's ability to regulate the transport cholesterols out of cells. People with TD have trouble transporting "bad" types of cholesterol out of their cells and do not have enough of the "good" types of cholesterol --- especialy a type of cholesterol called HDL cholesterol. HDL cholesterol is called good cholesterold because it removes fat molecules from artery walls, which prevents a condition called hardening of the arteries/atherosclerosis (buildup of fatty deposits on the artery walls). People who have very low levels of HDL cholesterol are at increased risk for heart disease. Common clinical features of Tangier disease: - Yellowish/orange tonsils that may frequently become enlarged - Very low serum levels of HDL cholesterol - Very low levels of apolipoprotein A1 - Elevated levels of triglycerides - Cloudiness of the cornea - Low platelet count - Enlarged spleen - Enlarged liver - Chest pains - Atherosclerosis
