Heterozygous familal hypercholesterolemia occurrence between Latvian Cardiology Center patients with high cholesterol

Aptuveni 1/500 kaukazoīdu rases pārstāvjiem ir sastopama autosomāli dominanta pārmantota heterozigotiska ģimenes hiperholesterinēmija (ĢH). Mērķis: apzināt ĢH pacientu sastopamību Latvijas Kardioloģijas centrā starp pacientiem ar paaugstinātu kopējo holesterīnu (KH) un zema blīvuma lipoproteīna holesterīnu (ZBLH). Metode: pētījumā iekļauti pacienti ar KH ≥ 7 mmol/l vai ZBLH ≥ 5 mmol/l, anketēti, paņemts asins paraugs un pārbaudīta mutāciju esamība ZBL receptora un apoproteīna B gēnā. Izmantojot PVO un Nīderlandes ĢH diagnostiskos kritērijus, noteikta diagnozes ticamība. Secinājumi: lielākā daļa pacientu atbilst iespējamai un ticamai ĢH diagnozei. Nevienam no pacientiem netika atrasta kāda no 8 meklētajām mutācijām. Pacientiem ar KVS pirmās pakāpes radiniekiem (46,4%), ZBLH bija statistiski ticami augstāks (p=0,029. Augsts un ļoti augsts kardiovaskulārais (KV) risks ir 91,3% pacientu. Nepastāv ticama saistība starp KV risku un ĢH diagnostiskajiem kritērijiem.FH is an autosomal dominant heterozygous disorder. Briefly, the frequency of FH is reported as 1/500 for Caucasian populations. Objective: to acknowledge the occurrence of FH in Latvian Cardiology Center between patients with increased levels of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-c). Methods: patients with TC ≥ 7 mmol/l or LDL-c ≥ 5 mmol/l were included in research and had their blood tested for LDL receptor and apolipoprotein B gene mutations. FH diagnosis reliability was established using WHO and Dutch FH diagnostic criteria. Conclusions: a majority of patients fit for the possible and probable FH diagnosis. None of the 8 mutations were found in patients. Patients who had first degree relatives with cardiovascular disease (46,4%), statistically had LDL-c credibly higher (p=0,029). 91,3% of the patients have high or very high cardiovascular risk. There is no plausible connection between cardiovascular disease risk and FH diagnostic criteria