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The prevalence of familial hypercholesterolaemia (FH) in New Zealand was estimated using a mailed questionnaire study. A total of 535 eligible patients were identified, resulting in an estimated prevalence of approximately 1 in 100. Only 28 patients (5.3%) had a definite clinical diagnosis, and 11 patients (2.2%) were diagnosed during screening for other disorders, suggesting that many FH patients remain undetected. Male patients with FH were more likely than female patients to be diagnosed before the age of 35 years (P = 0.005). A sub-study was conducted of 32 patients with the diagnosis of definite FH, defined as two or more documented FH-causing mutations and significant clinical manifestations. FH was diagnosed at a median age of 27 years (range 15-41 years). The FH-causing mutations found in these patients were associated with early-onset disease in 18 patients (69%) and late-onset disease in eight patients (31%). The most frequent clinical manifestations were xanthomas (86%), family history of CHD (79%), tendon xanthomas (49%), and tendon xanthomas in the absence of family history of CHD (30%). Congenital heart disease was common (43%), but tended to occur only in early-onset FH and not in late-onset FH, consistent with the effect of age at diagnosis in the absence of disease-causing mutations. The estimated prevalence of FH in the population of New Zealand is 1 in 100. Despite the increased health risk from FH, only a minority of patients with FH are diagnosed, leading to a substantial underestimation of the disease burden. Genetic testing remains the only means of diagnosing FH, but the availability and utilization of genetic testing varies considerably.