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Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment

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Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment. / Arnold, Natalie; Koenig, Wolfgang.

In: REV CARDIOVASC MED, Vol. 24, No. 8, 2023, p. 236.

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Harvard

Arnold, N & Koenig, W 2023, 'Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment', REV CARDIOVASC MED, vol. 24, no. 8, pp. 236. https://doi.org/10.31083/j.rcm2408236

APA

Arnold, N., & Koenig, W. (2023). Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment. REV CARDIOVASC MED, 24(8), 236. https://doi.org/10.31083/j.rcm2408236

Vancouver

Arnold N, Koenig W. Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment. REV CARDIOVASC MED. 2023;24(8):236. https://doi.org/10.31083/j.rcm2408236

Bibtex

@article{81348a43b3c2482a808e2344a84ce3b8,
title = "Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment",
abstract = "Familial hypercholesterolemia (FH), a condition, which is characterized by a life-long exposure to markedly elevated low-density lipoprotein (LDL) concentrations from birth, and it still remains underdiagnosed and undertreated, despite the fact that its heterogeneous form represents one of the commonest genetic disorders to date. Indeed, only 10% of all estimated affected individuals have been diagnosed worldwide and for the most of them diagnosis comes too late, when atherosclerotic cardiovascular disease (ASCVD) has already been developed. Undiagnosed and undertreated FH leads to accelerated ASCVD with a high rate of premature deaths. Recently, several novel treatment modalities have been introduced, especially for the management of severe hypercholesterolemia. Nonetheless, a substantial number of FH patients still do not achieve guideline-recommended LDL cholesterol target values. In the present review we will summarize and critically discuss pitfalls and challenges in successful diagnosis and treatment of FH.",
author = "Natalie Arnold and Wolfgang Koenig",
year = "2023",
doi = "10.31083/j.rcm2408236",
language = "English",
volume = "24",
pages = "236",
journal = "REV CARDIOVASC MED",
issn = "1530-6550",
publisher = "MedReviews LLC",
number = "8",

}

RIS

TY - JOUR

T1 - Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment

AU - Arnold, Natalie

AU - Koenig, Wolfgang

PY - 2023

Y1 - 2023

N2 - Familial hypercholesterolemia (FH), a condition, which is characterized by a life-long exposure to markedly elevated low-density lipoprotein (LDL) concentrations from birth, and it still remains underdiagnosed and undertreated, despite the fact that its heterogeneous form represents one of the commonest genetic disorders to date. Indeed, only 10% of all estimated affected individuals have been diagnosed worldwide and for the most of them diagnosis comes too late, when atherosclerotic cardiovascular disease (ASCVD) has already been developed. Undiagnosed and undertreated FH leads to accelerated ASCVD with a high rate of premature deaths. Recently, several novel treatment modalities have been introduced, especially for the management of severe hypercholesterolemia. Nonetheless, a substantial number of FH patients still do not achieve guideline-recommended LDL cholesterol target values. In the present review we will summarize and critically discuss pitfalls and challenges in successful diagnosis and treatment of FH.

AB - Familial hypercholesterolemia (FH), a condition, which is characterized by a life-long exposure to markedly elevated low-density lipoprotein (LDL) concentrations from birth, and it still remains underdiagnosed and undertreated, despite the fact that its heterogeneous form represents one of the commonest genetic disorders to date. Indeed, only 10% of all estimated affected individuals have been diagnosed worldwide and for the most of them diagnosis comes too late, when atherosclerotic cardiovascular disease (ASCVD) has already been developed. Undiagnosed and undertreated FH leads to accelerated ASCVD with a high rate of premature deaths. Recently, several novel treatment modalities have been introduced, especially for the management of severe hypercholesterolemia. Nonetheless, a substantial number of FH patients still do not achieve guideline-recommended LDL cholesterol target values. In the present review we will summarize and critically discuss pitfalls and challenges in successful diagnosis and treatment of FH.

U2 - 10.31083/j.rcm2408236

DO - 10.31083/j.rcm2408236

M3 - SCORING: Review article

VL - 24

SP - 236

JO - REV CARDIOVASC MED

JF - REV CARDIOVASC MED

SN - 1530-6550

IS - 8

ER -