["Gout tophi" and heart disease in the family]

A 35-year old man immigrated from Indonesia presented with "gout tophi" at his hands and lower extremities. Mother, aunt and uncle of this patient also suffered from "gout tophi" as well as a heart disease not exactly known to the patient. Clinical investigation was suspicious for tendon xanthomas and revealed arcus lipoides corneae of both eyes. Total cholesterol was 10.5 mmol/l and HDL cholesterol was 0.8 mmol/l. Genetic investigation showed heterozygous familial hypercholesterolemia, i.e., heterozygous mutation of the gene encoding the LDL receptor protein. The patient was treated with atorvastatin 20 mg daily and a low cholesterol diet. Total cholesterol decreased to 6.5 mmol/l and HDL cholesterol increased to 1.5 mmol/l within 2-month treatment. We recommended the determination of serum lipids in further members of this family and genetic evaluation of the patient's children with regard to the mutation identified.