A Japanese Case of Familial Hypercholesterolemia with a Protein-truncating Variant in LDLR and a PCSK9 Variant without Significant Atherosclerosis but Showing Remarkable Achilles Tendon Thickening.
Intern Med
; 63(15): 2137-2142, 2024.
Article
en En
| MEDLINE
| ID: mdl-39085092
ABSTRACT
The patient was a 54-year-old woman with familial hypercholesterolemia and remarkable Achilles tendon thickening. At 20 years old, the patient had a total cholesterol level of approximately 300 mg/dL. She started receiving rosuvastatin (5 mg/day) for low-density lipoprotein cholesterol (LDL-C) 235 mg/dL at 42 years old, which was increased to 10 mg/day at 54 years old, decreasing her serum LDL-C level to approximately 90 mg/dL. The serum Lp (a) level was 9 mg/dL. A computed tomography coronary angiogram showed no significant stenosis. Next-generation sequencing revealed a frameshift variant in LDL receptor (LDLR) (heterozygous) and a missense variant in proprotein convertase subtilisin/kaxin type 9 (PCSK9) (heterozygous). Continued statin therapy, in addition to low Lp (a) and female sex, can help prevent cardiovascular disease.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tendón Calcáneo
/
Receptores de LDL
/
Proproteína Convertasa 9
/
Hiperlipoproteinemia Tipo II
Límite:
Female
/
Humans
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Japón