Genetics
A young man with familial hypercholesterolaemia is found to also carry heterozygous CETP deficiency (Intern Med 1998)
Original title: Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency
A 21-year-old male was clinically diagnosed with familial hypercholesterolemia based on hypercholesterolemia, tendon xanthoma, and a family history of premature coronary heart disease. Sequencing of the LDL receptor gene showed a partially preserved normal sequence, genetically confirming him as a heterozygote for familial hypercholesterolemia. Screening for the two CETP gene mutations common in the Japanese population additionally identified him as a heterozygote for CETP deficiency, genetically documenting a rare complication of two distinct mutations, each independently linked to atherosclerotic disease, occurring together in the same patient.
Original abstract
A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine a possible point mutation. The normal sequence was partially preserved, and the patient was genetically diagnosed as a heterozygote of FH. In addition, screening for two cholesteryl ester transfer protein (CETP) gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutations for atherosclerotic ailments was genetically ascertained.
familial hypercholesterolaemiagenetics
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 18 August 2026. Methods.