Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous &lt;i&gt;ABCG5&lt;/i&gt; Gene Mutations Treated with Ezetimibe and Alirocumab

Tanaka, Hiroki; Watanabe, Yuki; Hirano, Shuji; Tada, Hayato; Nomura, Akihiro; Kawashiri, Masa‐aki; Takenaga, Makoto

doi:10.2169/internalmedicine.3811-19

Cited by 11 publications

(4 citation statements)

References 20 publications

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“…Therefore, a dysfunction caused by genetic mutations will lead to elevated serum sterol levels. Sitosterolemia caused by critical biallelic genetic mutations is a recessive disorder characterized by extremely high LDL cholesterol and sitosterol levels (11)(12)(13)(14)(15)(16)(17)(18). However, there are emerging data showing that a single mutation in ABCG5 can exceed the clinical threshold, and this is referred to as hyper LDL cholesterolemia.…”

Section: Discussionmentioning

confidence: 99%

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in <i>ABCG5</i>

et al. 2023

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We herein present a case series of hypercholesterolemia caused by a pathogenic mutation in the ATPbinding cassette sub-family G member 5 (ABCG5). Three unrelated infantile patients who were breastfed and had extremely elevated low-density lipoprotein (LDL) cholesterol levels were referred to our hospital. Their LDL cholesterol levels decreased significantly after weaning. Panel sequencing revealed a pathogenic mutation in ABCG5 in each patient. An 8-year-old girl was also referred due to suspected Familial hypercholesterolemia. Panel sequencing revealed a pathogenic mutation in ABCG5. A cholesterol-reduced diet alone significantly reduced the LDL cholesterol levels. Moreover, the administration of ezetimibe was found to be beneficial.

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Section: Discussionmentioning

confidence: 99%

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in <i>ABCG5</i>

et al. 2023

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“…The effect of PCSK9 inhibitors on sitosterol levels has not yet been established. A few studies have reported the effectiveness of PCSK9 inhibitors in patients with sitosterolemia, especially those with high levels of cholesterol (33,34). Thus, statins and PCSK9 inhibitors can be considered treatment options for patients with very high lev- 47 .…”

Section: Discussionmentioning

confidence: 99%

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature

et al. 2022

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A 17-year-old boy with acute coronary syndrome was admitted to our hospital. He had xanthomas over his elbow and Achilles tendon and a high level of low-density lipoprotein cholesterol; therefore, his initial diagnosis was familial hypercholesterolemia. However, a genetic analysis revealed a compound heterozygous mutation in the ABCG5 gene with a high serum level of sitosterol, leading to the diagnosis of sitosterolemia. After lipid-lowering treatment, percutaneous coronary intervention was performed. Furthermore, a persistently high C-reactive protein level and images of large arteries led to a diagnosis of Takayasu arteritis. To our knowledge, this is the first case of sitosterolemia complicated by Takayasu arteritis.

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“…These include elevated LDL cholesterol levels, cutaneous xanthomas since childhood, and premature CAD in childhood. 89 90 91 We have managed worse cases of sitosterolemia with premature CAD, a case of a young lady (aged 25 years old) with myocardial infarction, 89 and a boy (aged 15 years old) with ischemic heart failure. 91 Both patients had cutaneous xanthomas and Achilles tendon thickness similar to HoFH.…”

Section: Factors Contributing To the Phenotypic Variations Of Fhmentioning

confidence: 99%

Individualized Treatment for Patients With Familial Hypercholesterolemia

Tada

Takamura

Kawashiri

2022

J Lipid Atheroscler

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Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated genes. Moreover, it is correlated with a high risk of cardiovascular disease. However, the phenotype severity even in this monogenic disease significantly varies. Thus, the current study aimed to describe FH and its importance and the factors (inherited and acquired) contributing to differences in phenotype severity. Different lipid-modification therapies according to these factors can lead to individualized treatments, which are also essential in the general populations.

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Sitosterolemia Exhibiting Severe Hypercholesterolemia with Tendon Xanthomas Due to Compound Heterozygous <i>ABCG5</i> Gene Mutations Treated with Ezetimibe and Alirocumab

Cited by 11 publications

References 20 publications

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in <i>ABCG5</i>

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in <i>ABCG5</i>

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature

Individualized Treatment for Patients With Familial Hypercholesterolemia

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