title: D-dimer assay in Egyptian patients with Gaucher disease: correlation with bone and lung involvement.
abstract: Gaucher disease is the most frequent lysosomal storage disorder. Bone and lung involvement are two major causes of morbidity in this disease. D-dimer is a reliable indicator of active microvascular thrombosis, even in patients without overt hypercoagulation. This study aimed to assess D-dimer levels in Gaucher disease, correlating this marker to clinical characteristics and radiological parameters to investigate its role as a potential predictor for the occurrence and severity of skeletal and pulmonary manifestations. The study population consisted of 56 Egyptian patients with Gaucher disease, 36 had type 1 Gaucher disease (64.3%) and 20 had type 3 Gaucher disease (35.7%). Thirty healthy individuals were enrolled as a control group. D-dimer levels were significantly higher in all patients with Gaucher disease compared with controls (P < 0.001). Patients with type 3 showed significantly higher D-dimer concentrations compared with type 1 (P < 0.001). Pulmonary involvement was present in a significant proportion among type 3 Gaucher patients (P < 0.05), whereas bone changes were present in a higher percentage in type 1 compared with type 3 Gaucher patients. D-dimers were significantly higher in patients with abnormal MRI findings of the long bones and in those with ground glass appearance on high-resolution computerized tomography of the chest compared with patients with normal radiology (P < 0.001). Splenectomized patients displayed significantly higher D-dimer levels compared with nonsplenectomized patients (P < 0.001). Our results suggest that D-dimer is significantly elevated in Gaucher disease, particularly type 3, and may be considered as a potential marker of risk prediction of bone and lung involvement that could be used to monitor treatment response.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
authors.forename: Eman M
authors.initials: EM
authors.lastname: Sherif
authors.forename: Azza A G
authors.initials: AA
authors.lastname: Tantawy
authors.forename: Amira A M
authors.initials: AA
authors.lastname: Adly
authors.forename: Hossam A
authors.initials: HA
authors.lastname: Kader
authors.forename: Eman A R
authors.initials: EA
authors.lastname: Ismail
mesh_terms: D000293:Adolescent; D001842:Bone and Bones / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004534:Egypt; D005260:Female; D005338:Fibrin Fibrinogen Degradation Products / Q000378:metabolism; D005776:Gaucher Disease / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008168:Lung / Q000473:pathology; D008297:Male
chemical_list: D005338:Fibrin Fibrinogen Degradation Products; C036309:fibrin fragment D