Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors

Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment strategies. Clinical impact of pharmacotherapy in...

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Bibliographic Details
Published inClinical case reports Vol. 12; no. 2; pp. e8537 - n/a
Main Authors Tani, Ryosuke, Matsunaga, Keiji, Toda, Yuta, Inoue, Tomoko, Fu, Hai Ying, Minamino, Tetsuo
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.02.2024
John Wiley and Sons Inc
Wiley
Subjects
Acids
Age
Aortic stenosis
Apolipoproteins
Atherosclerosis
Cardiology
Cardiovascular disease
Case Report
Case reports
Cholesterol
Consent
Coronary vessels
Drug therapy
Families & family life
Family medical history
Genetic testing
Genetics and Genomics
High density lipoprotein
homozygous familial hypercholesterolemia
Lipids
Lipoproteins
Low density lipoprotein receptors
Paediatrics and Adolescent Medicine
pediatric familial hypercholesterolemia
proprotein convertase subtilisin/kexin type 9 inhibitors
Statins
Tendons
Vein & artery diseases
pediatric familial hypercholesterolemia
proprotein convertase subtilisin/kexin type 9 inhibitors
homozygous familial hypercholesterolemia
genetic testing
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Summary:Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment strategies. Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.8537