Diagnosing familial hypercholesterolaemia: the relevance of genetic testing

摘要: Aims We assembled a cohort of patients with familial hypercholesterolaemia (FH) for both basic and clinical research. used set established diagnostic criteria to define FH. Some put forward that definite diagnosis FH is made when mutation in the LDL-receptor ( LDLR ) gene identified. therefore out determine these whether DNA would differ significantly from those diagnosed clinically. Methods results randomly selected 4000 hypercholesterolaemic Dutch Lipid Clinic network database. Phenotypical data were acquired by reviewing medical records. After review records, 2400 could be defined as having An was identified 52.3% patients. Patients without an demonstrated different laboratory characteristics. Low-density lipoprotein cholesterol higher mutation, whereas triglycerides mutation. The phenotypic differences between groups remained even after stratification presence or absence tendon xanthomas. Conclusion Despite use stringent patients, two cohorts within our study population, namely Our findings suggest among other causes dyslipidaemia may present. These observations underline relevance genetic testing practice, screening purposes, research involving