Abstract: Objective To study the diagnosis and treatment of familial hypercholesterolemia (HF). Methods The clinical manifestations, laboratory tests and angiography about one HF patient were retrospectively analyzed with the related literature reviewed. We hereby summarized experience in the diagnosis and treatment of HF. Results The patient was a 21-year-old male subject. He was diagnosed with HF according to his clinical manifestations as those of xanthoma and premature coronary heart disease. Conclusion HF is a rare autosomal genetic disease. Its early diagnosis and prevention are the key to the avoidance of fatal cardiovascular disease.