Identification of familial hypercholesterolemia in Taiwan: report of eleven cases.

Background: Familial hypercholesterolemia is associated with a very high risk of premature coronary heart disease. In order to identify cases of familial hypercholesterolemia in Taiwan, we screened the hyperlipidemic patients in our metabolic clinics.

Methods: Hyperlipidemic patients were screened in the metabolic outpatient department and the cases which fulfilled the clinical criteria of definitive or possible familial hypercholesterolemia were further analyzed. Their clinical characteristics, including age, gender, physical findings, past history of coronary heart disease or cerebrovascular accident (CVA), family history, and lipid profiles before and after medical treatment, were reviewed.

Results: Eight women and 3 men fulfilled the diagnostic criteria. The mean age at diagnosis was 51.1 +/- 11.9 years old. Tendon xanthomas were found in 5 patients with definitive familial hypercholesterolemia. Coronary heart disease was confirmed in one patient and old CVA was noted in another 2 patients. The mean total cholesterol level was 390.3 +/- 88.9 mg/dl and the mean low density lipoprotein-cholesterol (LDL-cholesterol) level was 309.6 +/- 89.9 mg/dl before treatment. After a mean treatment duration of 45.2 months, the mean total cholesterol level and LDL-cholesterol level were 326.8 +/- 87.8 mg/dl and 249.1 +/- 91.1 mg/dl, respectively.

Conclusion: Clinically diagnosed familial hypercholesterolemia indeed exists in Taiwan. As compared to other reports, the mean age at diagnosis in our series was older and the majority of patients were women. Most patients were not vigorously treated and the family members were not thoroughly screened. Adequate treatment of patients with familial hypercholesterolemia in clinical practice and screening their family members are crucial in preventing new or recurrent coronary heart disease.