Manifestations of familial hypercholesterolaemia.

摘要

Familial hypercholesterolaemia (FH; Online Medelian Inheritance of Man - OMIM 143890) is the most common and severe form of monogenic hypercholesterolaemia.1 We describe an elderly woman who despite classical clinical findings and high cholesterol levels was not diagnosed until she was serendipitously seen in a lipid disorders clinic (a family member was being seen for management of hyperlipidaemia).A visiting 77-year-old Malay woman was seen in a lipid disorders clinic. While taking low-dose statin therapy, a fasting lipid profile showed a total cholesterol of 9.6 mmol/L (desirable 5.5 mmol/L), high-density lipoprotein cholesterol 1.3 mmol/L (1.0-2.5 mmol/L), triglycerides 1.8 mmol/L (< 1.8 mmol/L), low-density lipoprotein (LDL) cholesterol 7.4 mmol/L (<3.4 mmol/L) and apolipoprotein B 2.14 g/L (<1.0 g/L). Typical manifestations were present including bilateral corneal arcus, xanthelasma (Fig. 1) and xanthomata involving both the extensor tendons of the hand (Fig. 2) and Achilles tendons (Fig. 3). Cascade screening of first-degree relatives confirmed a dominant pattern of inheritance of the hypercholesterolaemia. Biochemical genetic testing found a functional mutation in the LDL-receptor gene (LDLR) establishing the molecular diagnosis.