Abdominal lymphadenopathy in children with Gaucher disease: Relation to disease severity and glucosylsphingosine

Abstract

Few case reports and series reported abdominal lymphadenopathy (ALN) in people with Gaucher disease (GD). However, it’s prevalence among Gaucher population, clinical implications and potential biomarkers are unknown. Hence this study aims to assess the prevalence of ALN among children with GD & to correlate it to neutrophil-lymphocytic-ratio (NLR), platelet-lymphocytic-ratio (PLR) and glucosylsphingosine (Lyso-GL1). Fifty children with GD (14 type-1 and 36 type-3) on enzyme-replacement therapy (ERT) were compared to 50 matched healthy controls, focusing on history of pressure manifestations by ALN (diarrhea, constipation, abdominal pain, intestinal obstruction), and history of splenectomy, with calculation of severity scoring index (SSI). NLR, PLR and Lyso-GL1 were measured. Abdominal-ultrasound was done with assessment of liver and spleen volumes and ALN. CT-scan was done for those having significant lymphadenopathy. Twenty-six children with GD had ALN (52%). The most common presentations were abdominal-pain (22%) & constipation (18%), with intestinal-obstruction in 3 children (6%). Children with GD had significantly higher NLR (p < .001) and decreased PLR (p = .024) compared to controls. Interestingly, children with GD having ALN had significantly higher SSI (.012), Lyso-GL1 (p = .002) and NLR (p = .001) than those without ALN. Multivariate-logistic regression showed that ALN was independently related to Lyso-GL1 (p = .027), NLR (p = .023) and SSI (p = .032). Thus, ALN is a prevalent GD morbidity with wide clinical-spectrum ranging from asymptomatic cases to intestinal obstruction. ALN is related to SSI, NLR and Lyso-GL1 in children with GD.

Highlights

• Children with GD had significantly higher NLR and lower PLR compared to controls.

• Children with GD having ALN had significantly higher SSI, Lyso-GL1 and NLR than those without ALN.

• ALN was independently related to Lyso-GL1, NLR and SSI in children with GD.

Keywords:

• Abdominal adenopathy
• glucosylsphingosine
• Gaucher disease
• neutrophil lymphocytic ratio

Acknowledgment

We would like to express our sincere gratitude to the Egyptian Ministry of Health and project HOPE for providing the enzyme replacement and Sanofi Genzyme for supporting the genotyping and lyso-GL-1 analysis.

Disclosure statement

No potential conflict of interest was reported by the authors.

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Authors’ contribution

Azza Tantawy: Conceptualization, data curation, Writing Original draft, supervision, reviewing and editing.

Amira Adly: Conceptualization, data curation, Writing Original draft, supervision, reviewing and editing.

Sherihane Madkour: Investigation, preparation, project visualization.

Heba Atef: Investigation, preparation, project visualization.

Nouran Salah: Conceptualization, methodology, investigation, writing and editing.

Statement of ethics

This research as approved by the local Ain-Shams university ethical committee with an approval number of R 42/2021. Written informed consent was taken from the legal guardians of all participants.

Availability of data and material

Data will be available upon request from the corresponding author ([email protected]).