Un caso de hipocolesterolemia a estudio

IF 1.9 Q3 PERIPHERAL VASCULAR DISEASE Clinica e Investigacion en Arteriosclerosis Pub Date : 2023-09-01 DOI:10.1016/j.arteri.2023.05.003
Ana Camacho , María José Ariza , Nuria Amigó , Patricia Macías Guillén , Miguel Ángel Sánchez Chaparro , Pedro Valdivielso
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引用次数: 0

Abstract

Primary hypocholesterolemia (or hypobetalipoproteinemia) is a rare disorder of lipoprotein metabolism that may be due to a polygenic predisposition or a monogenic disease. Among these, it is possible to differentiate between symptomatic and asymptomatic forms, in which, in the absence of secondary causes, the initial clinical suspicion is plasma ApoB levels below the 5 th percentile of the distribution by age and sex. Here we describe the differential diagnosis of a case of asymptomatic hypocholesterolemia. We studied proband's clinical data, the lipid profile of the proband and her relatives and the clinical data of the family relevant to carry out the differential diagnosis. We performed a genetic study as the diagnostic test. The information obtained from the differential diagnosis suggested a heterozygous hypobetalipoproteinemia due to PCSK9 loss-of-function variants. The diagnostic test revealed, in the proband, the presence of a heterozygous PCSK9 frame-shift variant of a maternal origin. Plasma levels of LDL cholesterol and PCSK9 of the patient and her relatives were compatible with the segregation of the variant revealed. In conclusion, the diagnostic test performed confirmed the suspected diagnosis of the proband as asymptomatic familial hypobetalipoproteinemia due to a loss-of-function variant in the PCSK9 gene.

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低胆固醇血症一例研究
原发性低胆固醇血症(或低β脂蛋白血症)是一种罕见的脂蛋白代谢障碍,可能是由多基因易感性或单基因疾病引起的。其中,可以区分有症状和无症状的形式,在没有次要原因的情况下,最初的临床怀疑是血浆ApoB水平低于按年龄和性别分布的第5%。在此,我们描述一例无症状低胆固醇血症的鉴别诊断。我们研究了先证者的临床数据、先证者及其亲属的血脂谱以及相关家族的临床数据,以进行鉴别诊断。我们进行了一项基因研究作为诊断测试。从鉴别诊断中获得的信息表明,PCSK9功能缺失变异导致杂合性低β脂蛋白血症。诊断测试显示,在先证者中,存在母体来源的杂合PCSK9移框变体。患者及其亲属的血浆低密度脂蛋白胆固醇和PCSK9水平与所揭示的变体的分离一致。总之,所进行的诊断测试证实,由于PCSK9基因的功能缺失变体,先证者的疑似诊断为无症状家族性低β脂蛋白血症。
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来源期刊
Clinica e Investigacion en Arteriosclerosis
Clinica e Investigacion en Arteriosclerosis PERIPHERAL VASCULAR DISEASE-
CiteScore
3.20
自引率
6.20%
发文量
44
审稿时长
40 days
期刊介绍: La publicación idónea para acceder tanto a los últimos originales de investigación como a formación médica continuada sobre la arteriosclerosis y su etiología, epidemiología, fisiopatología, diagnóstico y tratamiento. Además, es la publicación oficial de la Sociedad Española de Arteriosclerosis.
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