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

• Main Authors: 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
• Format: Article
• Language: English
• Published: Elsevier 2014-01-01
• Series: Molecular Genetics and Metabolism Reports
• Subjects: Adipose triglyceride lipase deficiency; Automated hematology analyzer; BASO-WX and BASO-WY; Circulatory neutrophils; Jordans' anomaly; Triglyceride deposit cardiomyovasculopathy
• Online Access: http://www.sciencedirect.com/science/article/pii/S221442691400038X
• ISSN: 2214-4269

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.