Etiology

 germline mutations in

• Tangier disease (a severe HDL deficiency syndrome characterized by accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis) (MIM.205400)
• high density lipoprotein deficiency (MIM.604091)
• protection against coronary heart disease in familial hypercholesterolemia (FH) (MIM.143890)

References

 Oram JF. Molecular basis of cholesterol homeostasis: lessons from Tangier disease and ABCA1. Trends Mol Med. 2002 Apr;8(4):168-73. PMID: #11927274#