Heterozigotiskas ģimenes hiperholesterinēmijas sastopamība starp Latvijas kardioloģijas centra pacientiem ar augstu holesterīna līmeni
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Latvijas Universitāte
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Abstract
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.
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.