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A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously

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Abstract

Familial lecithin:cholesterol acyltransferase (LCAT) deficiency is a rare inherited disorder that causes an extremely low high-density lipoprotein cholesterol concentration in serum. Recently, acquired LCAT deficiency caused by IgG antibodies to LCAT, without any LCAT gene mutation, was reported. Here we describe a case of acquired LCAT deficiency occurring in association with sarcoidosis. The patient was a Japanese female aged 70 years, had no mutation in the LCAT gene exon sequence, but had an LCAT inhibitor factor in her serum, detected using lipoprotein-deficient serum. She was diagnosed with acquired LCAT deficiency. Her abnormalities of serum lipoproteins improved spontaneously during three and a half years. Because they require different treatment strategies, distinction between familial lecithin:cholesterol acyltransferase deficiency (FLD) and acquired LCAT deficiency by gene sequencing is warranted, especially in cases without corneal clouding.

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Authors and Affiliations

  1. Department of Cardiology, Pulmonology, Hypertension and Nephrology, Ehime University Graduate School of Medicine, Toon, Ehime, 791-0295, Japan

    Tanino Akiko, Takafumi Okura, Tomoaki Nagao, Masayoshi Kukida, Daijiro Enomoto, Ken-ichi Miyoshi & Jitsuo Higaki

  2. Center for Advanced Medicine, Chiba University Hospital, Chiba University, Chiba, 260-8677, Japan

    Masayuki Kuroda

  3. Department of Clinical-Laboratory and Experimental-Research Medicine, Toho University Sakura Medical Center, Sakura, Chiba, 285-8741, Japan

    Hideaki Bujo

Authors
  1. Tanino Akiko
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  2. Takafumi Okura
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  3. Tomoaki Nagao
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  4. Masayoshi Kukida
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  5. Daijiro Enomoto
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  6. Ken-ichi Miyoshi
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  7. Jitsuo Higaki
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  8. Masayuki Kuroda
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  9. Hideaki Bujo
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Corresponding author

Correspondence to Takafumi Okura.

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Conflict of interest

Honoraria: Jitsuo Higaki (Pfizer Inc, Asteras Co, Takeda Pharm Co, Boehringer-Ingelheim Japan Co, Daiichi-Sankyo Co, MSD Co, Mochida Pharm Co, Novartis Pharm Co, and DaiNihon-Sumitomo Co), Research funding: Jitsuo Higaki (Pfizer Inc, Asteras Co, Takeda Pharm Co, Boehringer-Ingelheim Japan Co, Daiichi-Sankyo Co, MSD Co, Mochida Pharm Co, Novartis Pharm Co, and DaiNihon-Sumitomo Co). The other authors have no conflicts of interest with regard to the content of this article.

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This article does not contain any studies with human participants performed by any of the authors.

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Akiko, T., Okura, T., Nagao, T. et al. A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously. CEN Case Rep 5, 192–196 (2016). https://doi.org/10.1007/s13730-016-0223-4

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  • DOI: https://doi.org/10.1007/s13730-016-0223-4

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