Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

Akira Suzuki; Hironori Nagasaka; Yasuhiro Ochi; Kazuhiro Kobayashi; Hiroshi Nakamura; Daisaku Nakatani; Satoshi Yamaguchi; Shinobu Yamaki; Atsushi Wada; Yoshihisa Shirata; Shu-Ping Hui; Tatsushi Toda; Hiroshi Kuroda; Hitoshi Chiba; Ken-Ichi Hirano

doi:10.1016/j.ymgmr.2014.05.001

Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy

Mol Genet Metab Rep. 2014 May 27:1:249-253. doi: 10.1016/j.ymgmr.2014.05.001. eCollection 2014.

Authors

Affiliations

¹ Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics (CNT), Graduate School of Medicine, Osaka University, Suita, Osaka 565-0874, Japan.
² Department of Pediatrics, Takarazuka City Hospital, Takarazuka 665-0827, Japan.
³ Scientific Affairs, Sysmex Corporation, Kobe 651-2241, Japan.
⁴ Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
⁵ Department of Community Health and Medicine, Yamaguchi University, School of Medicine, Ube 755-8505, Japan.
⁶ Faculty of Health Sciences, Hokkaido University, Sapporo 060-0812, Japan.
⁷ Sapporo Branch, Sysmex Corporation, Sapporo 060-0002, Japan.
⁸ Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, 980-8574, Japan.

Abstract

Adipose triglyceride lipase (ATGL) deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy presents distinct fat-containing vacuoles known as Jordans' anomaly in peripheral leucocytes. To develop an automatic notification system for Jordans' anomaly in ATGL-deficient patients, we analyzed circulatory leukocyte scattergrams on automated hematology analyzer XE-5000. The BASO-WX and BASO-WY values were found to be significantly higher in patients than those in non-affected subjects. The two parameters measured by automated hematology analyzer may be expected to provide an important diagnostic clue for homozygous ATGL deficiency.

Keywords: ATGL, adipose triglyceride lipase; Adipose triglyceride lipase deficiency; Automated hematology analyzer; BASO-WX and BASO-WY; Circulatory neutrophils; Jordans' anomaly; NLSD-M, Neutral lipid storage disease with myopathy (NLSD-M); TGCV, triglyceride deposit cardiomyovasculopathy; Triglyceride deposit cardiomyovasculopathy.