Prognostic significance of clinical and laboratory markers for assessing the quality of life of children with type 1 Gaucher disease
DOI:
https://doi.org/10.15574/SP.2025.8(152).1322Keywords:
type 1 Gaucher disease, enzyme replacement therapy, laboratory markers, quality of life, visual analog scale, general fatigue, cognitive fatigueAbstract
Type 1 Gaucher disease (GD1) is a rare genetic disorder that disrupts lipid metabolism and has a wide range of clinical manifestations. An important aspect of treatment is monitoring changes in the quality of life of patients, especially children, during enzyme replacement therapy. Therefore, studying the correlations between laboratory markers and quality of life indicators is necessary to improve therapeutic strategies.
Aim - to evaluate the relationship between laboratory markers (hemoglobin, erythrocytes, platelets, spleen volume, Lyso-GL1) and quality of life indicators (sleep, general fatigue, cognitive fatigue) in children with GD1 during a five-year course of enzyme replacement therapy.
Materials and methods. The study included 27 children under the age of 18 with clinically and molecularly confirmed diagnosis of GD1. Laboratory indicators and quality of life parameters were assessed using a visual analog scale (VAS). Measurements were taken before the start of treatment and annually for five years.
Results. A statistically significant correlation was found between hemoglobin levels and general and cognitive fatigue. Low platelet levels were associated with poor sleep quality. In addition, spleen size and Lyso-GL1 concentration were important indicators of the impact on general fatigue in children with GD1.
Conclusions. Laboratory markers such as hemoglobin level, platelet count, Lyso-GL1 concentration, and spleen size are important predictors of quality of life parameters in children with GD1. This allows predicting the effectiveness of therapy and adjusting treatment in a timely manner. Further research should focus on a more in-depth analysis of the mechanisms underlying the relationship between these indicators.
The study was conducted in accordance with the Declaration of Helsinki. The protocol was approved by the local ethics committee. Written informed consent was obtained from the children’s legal guardians.
The author declares no conflict of interest.
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