Familial hypercholesterolaemia - A diagnosis that every plastic surgeon can experience

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F18%3A10411366" target="_blank" >RIV/00216208:11110/18:10411366 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/18:10411366

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KHR9Zl~Xo" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=KHR9Zl~Xo</a>

DOI - Digital Object Identifier

—

Result language

angličtina

Original language name

Familial hypercholesterolaemia - A diagnosis that every plastic surgeon can experience

Original language description

Familial hypercholesterolaemia (FH) is the most common autosomal dominant inheritable disease caused by a defective catabolism of LDL particles. Their subsequent accumulation in circulation acce-lerates atherosclerotic vascular disease. Untreated FH increases the risk of pre-mature manifestation of atherosclerosis (myocardial infarction - MI- or stroke); it is known that homozygous patients, if not adequately treated, are usually affected by atherothrombotic complications of the underlying disease before 20 years of age and often do not live longer than 30 years. Patients with FH are asymptomatic for a long period of time; their elevated blood lipid levels are often a random laboratory finding. The cardiovascular complications (MI or stroke) may be the primary manifestation of this disease. Clinical signs (xanthomas, xanthelasma or arcus corne-ae lipoides) occur rarely in these patients but are pathognomic, so at least basal awareness of these findings is necessary. Upon detection of such findings, a dia-gnostic procedure of FH including blood lipid measuring, careful personal and family history of cardiovascular disease (CVD) and subsequent referral to GPs or to MEDPED specialist is crucial. MEDPED (Make Early Diagnosis to Prevent Early Deaths in MEDical PEDigrees) project as-sociates physicians specializing in patients with severe lipid metabolism disorders including FH. Treatment is based on sta-tins, often in combination with ezetimibe. A great benefit in the treatment of these patients was the discovery of PCSK9 inhibi-tors, which are very effective and represent a therapeutic option especially for patients with very severe dyslipidaemia or with intolerance of statin therapy. The FH awareness of a plastic surgeon as a first-contact physician, who may be confronted with typical skin or eye mani-festations of FH, is essential for the early detection of FH patients, who can then be internally examined and followed-up. (C) 2018, Czech Medical Association J.E. Purkyne. All rights reserved.

Czech name

—

Czech description

—

Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

—

OECD FORD branch

30201 - Cardiac and Cardiovascular systems

Project

—

Continuities

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Acta Chirurgiae Plasticae

ISSN

0001-5423

e-ISSN

—

Volume of the periodical

60

Issue of the periodical within the volume

2-4

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

5

Pages from-to

54-58

UT code for WoS article

—

EID of the result in the Scopus database

2-s2.0-85084327471