Oft unterschätzte Probleme in der Lipidologie: Verspätung in der Diagnose und Tachyphylaxie in der Therapie

Summary Frequently underestimated problems in lipidology: late diagnosis and tachyphylaxis in treatment ( We report the case of a 44-year-old patient with severe hypercholesterol- aemia, referred to our outpatient clinic . On the basis of the clinical findings we performed a molecular genetic analysis which confirmed the suggested point mutation at amino acid position 3,500 (R3,500Q) in the gene encoding apolipo- protein B-100. The diagnosis of familial defective apolipoprotein B-100 (FDB) was thus molecularly proven. Unfortunately, at the time of diagnosis, a hitherto unknown three-vessel coronary artery disease was already present. ( In addition, this case confronted us with the problem of a potential tachyphy- laxis phenomenon when using atorvastatin. Replacing atorvastatin by rosu- vastatin resulted in a marked and persistent subsequent reduction of the total and LDL-cholesterol concentrations lasting for 40 months at least. ( The frequent problems of late diagnosis in patients with familial forms of hypercholesterolaemia and an insufficient long-term treatment are discussed.