Figure 1.

Clinical characteristics and pedigree of the patient. The corneal arcus (arrowhead) is visible in the inferior margin of the iris (A) and cutaneous xanthomas (arrow) in the elbow (B). (C) Shows the pedigree of the patient: the circles indicate female family members, squares indicate male family members, slash denotes deceased members, solid symbols indicate affected family members, and open symbols denote unaffected family members. The proband is a family member, III-1. The data of the patient's blood lipids were derived from tests taken during her first visit to our clinic, while those of her parents were derived from the results of a physical examination within a year. The patient's paternal aunt reportedly developed “nephritis” in adolescence. Her paternal grandmother died of sudden cardiac death in middle age. Her maternal grandmother developed an aortic aneurysm with ulcers, and type II diabetes mellitus. Her maternal grandfather had a history of gastric cancer. LDL-C, low-density lipoprotein cholesterol; TC, total cholesterol.