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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Veröffentlicht in:	Clinical Case Reports 2024-02, Vol.12 (2), p.e8537-n/a
Hauptverfasser:	Tani, Ryosuke, Matsunaga, Keiji, Toda, Yuta, Inoue, Tomoko, Fu, Hai Ying, Minamino, Tetsuo
Format:	Artikel
Sprache:	eng
Schlagworte:	Acids Age Anticholesteremic agents Aortic stenosis Apolipoproteins Atherosclerosis Cardiology Cardiovascular disease Case Report Case reports Cholesterol Consent Coronary heart disease Coronary vessels Drug therapy Families & family life Family medical history Genetic aspects Genetic testing Genetics and Genomics High density lipoprotein homozygous familial hypercholesterolemia Hypercholesterolemia in children Lipids Lipoproteins Low density lipoprotein receptors Low density lipoproteins Paediatrics and Adolescent Medicine pediatric familial hypercholesterolemia proprotein convertase subtilisin/kexin type 9 inhibitors Statins Tendons Vein & artery diseases
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Zusammenfassung:	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