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, Jahrgang 24, Nr. 8, 2023, S. 236.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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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 -