Godine 1967. Crepaldi je prvi zapazio da se u mnogo ljudi istovremeno pojavljuju pretilost, dislipidemija, šećerna bolest i hipertenzija. Kasnih sedamdesetih godina dvadesetog stoljeća njemački su istraživači takvo nakupljanje stanja nazvali metaboličkim sindromom. Otada je taj sindrom opisivan pod nekoliko naziva kao "sindrom inzulinske rezistencije", "sindrom X", "plurimetabolički sindrom", te "metabolički sindrom". Sindrom zapravo predstavlja višekomponentnu bolest nastalu kombinacijom načina življenja i čimbenika okoline, s time da su neke populacije pokazale genetičku podložnost za razvoj tog sindroma. Metabolički sindrom povećava rizik za kardiovaskularnu bolest i šećernu bolest tipa 2. Nacionalni program obrazovanja o kolesterolu -Panel liječenja odraslih III (engl. National Cholesterol Education Program -Adult Treatment Panel III, NCEP-ATP III) prepoznao je metabolički sindrom kao skup abnormalnih stanja koja povećavaju rizik, kako za kardiovaskularnu bolest (KVB), tako i za šećernu bolest tipa 2. Smjernice NCEP-ATP III također su istaknule središnju ulogu abdominalne pretilosti u razvoju tog sindroma. Rastuća prevalencija sindroma ima važne zdravstvene implikacije. Svaka sastavnica metaboličkog sindroma predstavlja potvrđeni čimbenik rizika za KVB, no prisutnost mnogih komponenti rezultira većim rizikom nego zbroj rizika povezanih s pojedinačnim komponentama. Dokazano je, primjerice, da su muškarci s istodobnom prisutnošću hiperinzulinemije nakon gladovanja, s povišenim koncentracijama apolipoproteina B, te povišenim udjelom malih LDL-čestica imali 20 puta veći rizik razvijanja KVB tijekom petogodišnjeg razdoblja praćenja u studiji, nego muškarci bez tog skupa netradicionalnih biljega rizika. Usto, rizik za KVB povezan s tom aterogenom metaboličkom trojkom ostao je značajan čak i nakon prilagodbe za tradicionalne rizične čimbenike kao što su koncentracije LDL-kolesterola, triglicerida i HDL-kolesterola. Procjena rizika uključuje listu bioloških parametara u kojoj važnu ulogu imaju lipidi, posebice trigliceridi i HDL-čestice. Tradicionalni čimbenici povezani s metaboličkim sindromom su pretilost, inzulinska rezistencija, hiperglikemija, dislipemija, hipertenzija i mikroalbuminurija.
Summary Background: The clinical value and the interrelationship of HDL and the metabolic syndrome were studied using plasma levels of TNF-a, IL 6, IL 10, IL 8, IL 1beta, IL 2R in patients with cardiovascular stenosis. Methods: On the basis of exclusion criteria, we recruited 198 male and female patients aged 45 to 75 years with CVD and 43 patients with MS. Patients were subdivided into %stenosis according to the CASS guidelines. Lipids were measured on an Olympus AU640 analyzer. Ox-LDL was measured by the immunosorbent assay and MDA by HPLC. Cytokines were analysed with DPC Immulite 1000. Statistical tests were performed using SPSS for Windows, 14.0 & Medcalc. Results: Ox-LDL and apoB were significantly higher in the MS(+) patient group (88.7 U/L) compared to the MS(-) group (77.5 U/L). Ox-LDL showed a positive correlation (P=0.001) with LDL-C, apoB and MDA. There was a higher concentration of HDL in the patient group MS(-), which was confirmed by a non-significant (P=0.849) change of apoA(I) from 1.267 g/L in the MS(+) to 1.275 g/L in the MS(-) group. A light significant increase of IL 10 (P=0.05) in MS(+) patients was observed, and the other analysed inflammation markers were mostly unchanged. MS has no direct association with the cytokine production. Conclusions: Ox-LDL and apoB were significantly higher in the MS(+) patient group. In a multiple regression analysis for ox-LDL, apoB (P=0.003) emerged as a strong predictor of the ox-LDL concentration, independent of age, gender, BMI and smoking.
IntroductionFamilial hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol (TCHOL) levels due to an increase in low-density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, more than 800 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations varies among different ethnicities. Until now no mutations of LDLR have been reported in the Albanian population.Material and methodsWe assessed the contribution of the LDLR gene mutations as causes of FH in an Albanian population. Fifty probands with a clinical diagnosis of FH were included. We analysed all the exons and the promoter of the LDLR gene by using restriction isotyping or direct sequencing.ResultsTwenty-one patients were heterozygous for the 1646G>A mutation (FH Genoa) in exon 11 and 9 patients were heterozygous for the 81T>C mutation in exon 2 of the LDLR gene.ConclusionsThis report describes two LDLR gene mutations accounting for FH in Albania (1646G>A, 81T>C).
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