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. 2016 Nov;5(2):192-196.
doi: 10.1007/s13730-016-0223-4. Epub 2016 Jun 7.

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

Tanino Akiko  1 , Takafumi Okura  2 , Tomoaki Nagao  1 , Masayoshi Kukida  1 , Daijiro Enomoto  1 , Ken-Ichi Miyoshi  1 , Jitsuo Higaki  1 , Masayuki Kuroda  3 , Hideaki Bujo  4
Affiliations

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

Tanino Akiko et al. CEN Case Rep. 2016 Nov.

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.

Keywords: Familial LCAT deficiency; Foam cells; Lecithin:cholesterol acyltransferase (LCAT) deficiency; Renal insufficiency; Spontaneous remission.

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Conflict of interest statement

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.

Human and animal rights

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

Figures

Fig. 1
Fig. 1
Histological findings of the renal biopsy. Accumulation of foam cells (a and b,arrow 1), mesangiolysis (a and b, arrow 2) and focal sclerosis (a and b, arrow 3). The glomerular basement membrane (GBM) showed a double contour (b, arrow 4)
Fig. 2
Fig. 2
Electron microscopy findings. Abnormal lipid accumulation in subendothelial space (arrow 1) and foam cells in mesangial region and sub-endothelial space (arrow 2)
Fig. 3
Fig. 3
To look for anti-LCAT antibodies or other LCAT inhibitors, we prepared lipoprotein-deficient serum (LPDS). LCAT activity was lower in the patient’s LPDS with added rLCAT than in normal LPDS with added rLCAT (a). LCAT activity was also lower in the patient’s LPDS with added normal serum than in normal LPDS with added normal serum (b)
Fig. 4
Fig. 4
Immunoprecipitation study. rLCAT was immunoprecipitated with anti-LCAT antibody [rabbit monoclonal antibody (mAb)] and with patients IgG. IP–WB immunoprecipitation–western blotting, HDL-C high density lipoprotein
See this image and copyright information in PMC

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