Year: 2009
Type: article
Study design: Observational Study
Abstract: Familial hypercholesterolemia (FH) is the best known monogenic disorder from the fat metabolism. This disease is characterized\nby xanthomas , increased serum levels of cLDL and premature cardiovascular disease. We carry out the genetical\ndiagnosis from the DNA study, from selected patients who present clinical symptomps for FH in Mallorca Island. Thanks to molecular tecnics applied to this study we can have unequivocal results in those patients, we are able to start a\ntreatment as soon as posible in order to delay the complications from this illness such as atherosclerosis. The objetives\nwe persue are: study prevalence of mutaciones on coronary LRDR gene, on those patients with clinical criteria for FH in\nMallorca population. To know the typus and characteristic from the different mutations of gen LRDR resulting on FH. Detect the effects on the different mutations. To study the frecuency of clinical symptoms (xanthomas tendinosos, arco\ncorneal, xanthelasma, Achilles tendinitis , Hypertension and DM) in order to start correct and early treatment on patients\nwith FH. We collect 212 cases with clinical criteria for FH, 65 cases (CI) were selected by Med Ped holandes for FH. 23%\ndevelop premature cardiovascular disease. Those results compared to the rest of the mainland were smaller. First complication\nwas ischaemic heart disease, twice in number on males and middle age population. Coronary disease (17%) was\nfirst followed by brain disease (4.6%). We found 24 mutations, 4 of them were new finding on this study. We found that\nHF prevalence is 1/474 and HF by genetical diagnosis is 1/780. Resulting from this study we have realized a proposal\nfor the diagnosis for FH.
Authors: Emilia Mateu, Marina Colom
Language: Spanish
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W14157650