Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In...

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Published inKardiovaskuli͡a︡rnai͡a︡ terapii͡a︡ i profilaktika Vol. 20; no. 6; p. 2893
Main Authors Blokhina, A. V., Ershova, A. I., Meshkov, A. N., Drapkina, O. M.
Format Journal Article
LanguageEnglish
Published SILICEA-POLIGRAF» LLC 16.10.2021
Subjects
apoe
apolipoprotein e
atherosclerosis
familial dysbetalipoproteinemia
genetic diseases
hyperlipidemia
lipid metabolism disorders
type iii hyperlipop rotei-nemia
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Summary:Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently studied and is extremely rarely diagnosed. In actual clinical practice, physicians do not have clear understanding of clinical course and genetic basis of FD. The aim was to present the most complete, but at the same time a critical review with a modern view on FD. We analyzed Russian and foreign publications from following electronic databases: PubMed, eLIBRARY, Google Scholar. As a result, the phenotypic features and genetic variability of the disease were considered and the main issues of diagnosis and treatment of patients with FD were discussed. The data presented will help the clinician to timely suspect the FD, conduct a full range of investigations and prescribe evidence-based lipid-lowering therapy.
ISSN:1728-8800
2619-0125
DOI:10.15829/1728-8800-2021-2893