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

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.

Comparison of neutrophil distribution patterns in Jordans' anomaly among major automated hematology analyzers

“…This might be partially ascribed to the different properties of the laser system equipped in the respective analyzer. On the other hand, the existence of small particles when analyzing the patient's sample using the WNR channel was in accordance with the report by Suzuki et al7 However, we were unable to clarify whether these small particles were derived from the Jordans' anomaly neutrophils.Although such data in this study were obtained from only 1 patient with asymptomatic Jordans' anomaly, further examination with much more patients with genetically proven NLSDM/TGCV seemed difficult due to extremely rare incidence of this disease. On the other hand, some of the differences between the control and KP-1 might be caused as normal variation.…”

“…6 However, there are little data about cytogram of such morphologically characteristic neutrophils obtained using other hematology analyzers. 7 Therefore, to assess whether other hematology analyzers can be used to identify the patients with Jordans' anomaly, we collected the peripheral blood from the patient with Jordans' anomaly (KP-1) and a normal healthy control and then compared the neutrophil dis- Control:…”

Neutral Lipid Storage Disease Associated with the <b><i>PNPLA2</i></b> Gene: Case Report and Literature Review

“…Further studies are necessary to verify that these symptoms are associated with this disease. Our summary demonstrates that Jordan's anomaly is the most consistent finding [13]. Treatment with bezafibrate has been proposed, with no or little clinical benefit in patients [14,15].…”

Imaging Modalities for Triglyceride Deposit Cardiomyovasculopathy

“…In addition, it has no direct relationship with Annals of Nuclear Cardiology J-STAGE Advance published date: August 23, 2017 doi: 10.17996/anc. [17][18][19][20][21][22][23][24][25][26][27][28] plasma TG levels, because regulatory mechanism and responsible enzymes are different intracellularly from those in plasma (7). The probands for TGCV carried genetic mutations in the adipose triglyceride lipase (ATGL), which is the ratelimiting enzyme for hydrolysis of intracellular TG (8).…”