Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia)

Pallazola, Vincent A.; Sathiyakumar, Vasanth; Park, Jihwan; Vakil, Rachit M.; Tóth, Peter P.; Lazo-Elizondo, Mariana; Brown, Emily; Quispe, Renato; Güallar, Eliseo; Banach, Maciej; Blumenthal, Roger S.; Jones, Steven R.; Marais, David; Soffer, Daniel; Sniderman, Allan D.; Martin, Seth S.

doi:10.5114/aoms.2019.86972

Cited by 25 publications

(13 citation statements)

References 31 publications

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“…As high RLP levels are strongly atherogenic, FDBL can lead to premature cardiovascular disease [46,47,54]. Patients with FDBL show both elevated triglyceride and total cholesterol levels, generally in the range of 7 to 10 mmol/L, as well as decreased HDL concentration and a VLDL/triglyceride ratio greater than 0.3 [49,55,56]. Palmar xanthomas are common [1,56].…”

Section: Familial Dysbetalipoproteinemiamentioning

confidence: 99%

The Genetic Basis of Hypertriglyceridemia

Carrasquilla

Christiansen

Kilpeläinen

2021

Curr Atheroscler Rep

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Purpose of Review Hypertriglyceridemia is a common dyslipidemia associated with an increased risk of cardiovascular disease and pancreatitis. Severe hypertriglyceridemia may sometimes be a monogenic condition. However, in the vast majority of patients, hypertriglyceridemia is due to the cumulative effect of multiple genetic risk variants along with lifestyle factors, medications, and disease conditions that elevate triglyceride levels. In this review, we will summarize recent progress in the understanding of the genetic basis of hypertriglyceridemia. Recent Findings More than 300 genetic loci have been identified for association with triglyceride levels in large genome-wide association studies. Studies combining the loci into polygenic scores have demonstrated that some hypertriglyceridemia phenotypes previously attributed to monogenic inheritance have a polygenic basis. The new genetic discoveries have opened avenues for the development of more effective triglyceride-lowering treatments and raised interest towards genetic screening and tailored treatments against hypertriglyceridemia. Summary The discovery of multiple genetic loci associated with elevated triglyceride levels has led to improved understanding of the genetic basis of hypertriglyceridemia and opened new translational opportunities.

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Section: Familial Dysbetalipoproteinemiamentioning

confidence: 99%

The Genetic Basis of Hypertriglyceridemia

Carrasquilla

Christiansen

Kilpeläinen

2021

Curr Atheroscler Rep

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“…Ко второй популяционной выборке был применен только АпоBалгоритм; распространенность СДЛП составила 2,0%. Авторы подчеркивают, что АпоВ-алгоритм способен выявлять менее выраженные фенотипы СДЛП [17].…”

Section: распространенностьunclassified

Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder

Блохина¹,

Ершова²,

Мешков³

et al. 2021

Cardiovasc Ther Prev

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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.

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“…Fenotypisk dysbetalipoproteinemi er således ikke spesielt sjelden og ikke begrenset til kun dem som er homozygote for apoE2 (7,8). Ei heller har de fleste pasientene kolesterol-og triglyseridkonsentrasjon over 8-10 mmol/l (6).…”

Section: Tilstanden Er Lett å Behandle Og Derfor Viktig å Diagnostisereunclassified

“…I en tysk populasjon der fenotypisk dysbetaliproteinemi ble påvist hos 350 (10,7 %) av 3 272 fortløpende undersøkte pasienter i en lipidpoliklinikk, var det bare 55 (15,7 %) av de 350 som var homozygote for apoE2 (7). I en ny undersøkelse av store amerikanske populasjoner ble prevalensen estimert til 0,2-2,0 %, alt etter hvilke kriterier som ble brukt til å definere fenotypen (8).…”

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