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Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis (transforming growth factor β-TGF-β, interleukin-IL 6, IL 10, high sensitive C reactive protein-hs CRP, vascular endothelial growth factor-VEGF, N-terminal pro-Natriuretic peptide-NT-proBNP) and clinical, laboratory and echocardiographic findings of the patients Materials and Methods: A total of 37 patients (5 MPS I, 4 MPS II, 2 MPS IIIa, 4 MPS IIIb, 14 MPS IVa, 8 MPS VI) and 32 controls with similar age and sex were included in the study. Results: Corneal clouding was seen in 29(78%) patients. There were 23 (62%) patients with organomegaly, and 28 (75%) patients with hearing loss. When the groups were compared in terms of NT-proBNP, hsCRP, TGF-β, IL6, IL10 and VEGF levels, there was a statistically significant increase in the patient group for NT-proBNP and VEGF (p = 0.04, p = 0.03, respectively). The carotid intima media thickness was statistically significantly higher in the patient group (p <0.001). Left ventricular diastolic diameter was significantly higher in the patient group (p = 0.009), intraventricular septum thickness was significantly higher in the patient group (p <0.001). E/A ratio was significantly lower in the patient group (p <0.001). Conclusion: Cardiac involvement in MPS patients is a major cause of mortality and morbidity. It is thought that cytokines, proinflammatory markers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determine biomarkers for vascular

Cardiovascular involvement is common in patients with mucopolysaccharidoses (MPS). In this study, we investigated the effects of the markers involved in vascular endothelial injury pathogenesis [transforming growth factor β-(TGF-β)], interleukin-6 (IL-6), IL-10, high sensitive-C reactive protein (hs-CRP), vascular endothelial growth factor (VEGF), N-terminal pro-Natriuretic peptide (NT-proBNP) and the clinical, laboratory and echocardiographic findings of the patients. Materials and Methods: A total of 37 patients (5 MPS I, 4 MPS II, 2 MPS IIIa, 4 MPS IIIb, 14 MPS IVa, 8 MPS VI) and 32 controls with similar age and sex were included in the study. Results: Corneal clouding was seen in 29 (78%) patients. There were 23 (62%) patients with organomegaly, and 28 (75%) patients with hearing loss. When the groups were compared in terms of NT-proBNP, hs-CRP, TGF-β, IL-6, IL-10 and VEGF levels, there was a statistically significant increase in the patient group for NT-proBNP and VEGF (p=0.04, p=0.03, respectively). The carotid intima media thickness was statistically significantly higher in the patient group (p<0.001). The left ventricular diastolic diameter was significantly higher in the patient group (p=0.009), intraventricular septum thickness was significantly higher in the patient group (p<0.001). The E/A ratio was significantly lower in the patient group (p<0.001). Conclusion: Cardiac involvement in MPS patients is a major cause of mortality and morbidity. It is thought that cytokines, proinflammatory markers are elevated in patients with vascular damage like other lysosomal diseases. There is a need for further studies to determine biomarkers for vascular involvement.

Aim: Gaucher disease is an autosomal recessive lysosomal storage disease caused by insufficient glucocerebrosidase activity resulting in accumulation of glucosylceramide, particularly in macrophages. Multiple myeloma and B cell lymphoma are considered to be one of the causes of death from GD in the long term. We aimed to compare cell surface antigens of leukocytes to try to identify a reliable marker for leukocyte infiltration and progression to lymphoid malignancy. Material ve Method: 10 Gaucher disease patients and 20 age-matched healthy controls were included. Leukocytes were collected from whole blood using a Ficoll gradient, stained for specific cell surface antigens (CD33, CD19, CD14, and CD8) and sorted by flow cytometry. Levels of each leukocyte cell surface antigen were expressed as a percentage of leukocytes expressing them. Leukocyte glucocerebrosidase activity was measured by fluorometry. Results: The percentage of CD19+ leukocytes in Gaucher disease patients (8.2 ± 3.4) was significantly higher than in the control group (4.8 ± 3.4) (p<0.05). The percentage of leukocytes expressing CD33 (12.8 ± 6.6 vs 7.9 ± 8.0, p=0.077), CD14 (10.6 ± 4.6 vs 7.1 ± 6.9, p=0.094) or CD8 (12.7 ± 5.3 vs 9.8 ± 5.9, p=0.115) was not significantly higher in patients than in controls. Discussion: The higher levels of CD19+ leukocytes may serve as a useful marker to predict leukocyte infiltration and perhaps also malignancy in Gaucher disease patients. Experimental anti-CD19 drugs are in development for the treatment of B cell cancers, and CD19+ leukocyte levels may also serve as a marker of the response to this treatment.

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