Bone Turnover Markers in Patients with Type 1 Gaucher Disease

Giuffrida, Gaetano; Cingari, Maria Rocca; Parrinello, Nunziatina Laura; Romano, Alessandra; Triolo, Anna; Franceschino, Magda; Raimondo, Francesco Di

doi:10.4081/hr.2012.e21

Cited by 21 publications

(22 citation statements)

References 52 publications

(106 reference statements)

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“…Bone turnover biomarkers are not currently used in clinical practice because studies to date have produced inconsistent results. (24,30) In our series, bone turnover markers had normal values, with no differences between patients and healthy controls. DXA is recommended for bone assessments in patients with GD1 (as well as MRI and quantitative chemical shift imaging), although all of these techniques have limitations.…”

Section: Discussionsupporting

confidence: 45%

“…However, the average value in our patients is lower than those associated with fragility fracture or previous stress fracture in other studies using the same technique. Bone turnover biomarkers are not currently used in clinical practice because studies to date have produced inconsistent results . In our series, bone turnover markers had normal values, with no differences between patients and healthy controls.…”

Section: Discussionmentioning

confidence: 47%

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Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation

Herrera

Pérez‐López²,

Moltó-Abad³

et al. 2017

Journal of Bone and Mineral Research

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Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD. Clinical data were collected and a general laboratory workup was performed. Bone mineral density (BMD) was measured at the lumbar spine and hip using dual-energy X-ray absorptiometry (DXA). Patients with bone infarcts or any other focal lesion in the area of indentation visible on imaging were excluded. Bone Material Strength index (BMSi) was measured by bone impact microindentation using an Osteoprobe instrument. Analysis of covariance (ANCOVA) models were fitted to adjust for age, sex, weight, and height. Sixteen patients with GD1 and 29 age- and sex-matched controls were included. GD1 was associated with significantly lower BMSi (adjusted beta -9.30; 95% CI, -15.18 to -3.42; p = 0.004) and reduced lumbar BMD (adjusted beta -0.14; 95% CI, -0.22 to -0.06; p = 0.002) and total hip BMD (adjusted beta -0.09; 95% CI, -0.15 to -0.03; p = 0.006), compared to GD1-free controls. Chitotriosidase levels were negatively correlated with BMSi (linear R = 51.6%, p = 0.004). Bone tissue mechanical characteristics were deteriorated in patients with GD1. BMSi was correlated with chitotriosidase, the marker of GD activity. Bone disorder requires special consideration in this group of patients, and microindentation could be an appropriate tool for assessing and managing their bone health. © 2017 American Society for Bone and Mineral Research.

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Section: Discussionsupporting

confidence: 45%

Section: Discussionmentioning

confidence: 47%

Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation

Herrera

Pérez‐López²,

Moltó-Abad³

et al. 2017

Journal of Bone and Mineral Research

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“…Biochemical studies include markers of bone remodeling such as C-terminal telopeptide of type I collagen (CTX), a bone resorption marker, and bone alkaline phosphatase (BAP), a bone formation marker. However, different studies have shown highly variable results about these biomarkers in GD patients both, at baseline and during ERT (11).…”

Section: Introductionmentioning

confidence: 99%

In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase

Bondar

Mucci

Crivaro

et al. 2017

Bone

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Gaucher disease (GD) is caused by mutations on the gene encoding for the lysosomal enzyme glucocerebrosidase. Type I GD (GD1) patients present anemia, hepatosplenomegaly and bone alterations. In spite of treatment, bone alterations in GD patients persist, including poor bone mineral density (BMD). Mechanisms leading to bone damage are not completely understood, but previous reports suggest that osteoclasts are involved. Chitotriosidase (CHIT) is the most reliable biomarker used in the follow up of patients, although its correlation with bone status is unknown. The aim of this work was to study the pro-osteoclastogenic potential in patients and to evaluate its correlation with CHIT activity levels and clinical parameters. PBMCs from treated patients and healthy controls were cultured in the presence of M-CSF, and mature osteoclasts were counted. BMD, blood CHIT activity and serum levels of CTX, BAP, and cytokines were evaluated in patients. We found that blood CHIT activity and osteoclast differentiation were significantly increased in patients, but no correlation between them was observed. Interestingly, osteoclast numbers but not CHIT, presented a negative correlation with BMD expressed as Z-score. CTX, BAP and serum cytokines involved in bone remodeling were found altered in GD1 patients. These results show for the first time a correlation between osteoclast differentiation and BMD in GD1 patients, supporting the involvement of osteoclasts in the bone pathology of GD1. Our results also suggest that an altered immune response may play an important role in bone damage.

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“…In addition, Khan et al also indicated that, in the management of patients with GD1, a spinal DXA Z-score <-1 should be a significant trigger for therapeutic intervention directed at maintaining bone mineral density above this value (36). From the metabolic point of view, Giuffrida et al (37) in a meta-analysis observed that studies involving bone biomarkers in GD patients show variable results which do not currently support their routine use for the clinical assessment of bone status, as an indication for therapy initiation, or monitoring the response to therapy suggesting that a greater understanding of bone markers and the relation to the bone manifestations of GD is required (37). Some studies have shown a positive effect of ERT and Substrate Reduction Therapy (SRT) on the frequency of bone crisis, bone pain and on BMD (38)(39)(40).…”

Section: Osteoporosismentioning

confidence: 99%

Gaucher disease: the role of the specialist on metabolic bone diseases

Masi

Brandi

2015

ccmbm

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SummaryAccording to European legislation, a disease can be considered rare or "orphan" when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible.

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Bone Turnover Markers in Patients with Type 1 Gaucher Disease

Cited by 21 publications

References 52 publications

Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation

Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation

In vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase

Gaucher disease: the role of the specialist on metabolic bone diseases

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