352Pharmacokinetics and pharmacodynamics of alirocumab in patients with autosomal dominant hypercholesterolemia associated with PCSK9 gain-of-function or ApoB loss-of-function mutations

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

BACKGROUND Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore, no randomized treatment study in this population has been reported. METHODS AND RESULTS We compiled clinical characteristics of PCSK9 GOF mutation carriers ...

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Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

RATIONALE Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease. ADH is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin 9. A number of patients, however, suffer from familial hypercholesterolemia 4 (FH4), define...

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ژورنال

عنوان ژورنال: European Heart Journal

سال: 2018

ISSN: 0195-668X,1522-9645

DOI: 10.1093/eurheartj/ehy564.352