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

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.

• Authors: Tanino Akiko, Takafumi Okura, Tomoaki Nagao, Masayoshi Kukida, Daijiro Enomoto, Ken-Ichi Miyoshi, Jitsuo Higaki, Masayuki Kuroda, Hideaki Bujo
• Journal: CEN case reports (CEN Case Rep) Vol. 5 Issue 2 Pg. 192-196 (Nov 2016) ISSN: 2192-4449 [Print] Japan
• PMID: 28508975 (Publication Type: Journal Article)