So in keeping with my first term in med school I thought I’d post some rare and really interesting diseases I come across.
Like the fruit of a similar name, Tangier results in orange colored tonsils and is associated with low HDL
The mechanism for this disease is a defective ABC transporter for cholesterol. LCAT is an enzyme that packs cholesterol esters into HDL. Discoidal HDLs are degraded because of cholesterol deficiencies.
It is inherited and causes childhood coronary disease, corneal opacity, and hepatosplenomegaly.