A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease

Rocco, Maja Di; Giona, Fiorina; Carubbi, Francesca; Linari, Silvia; Minichilli, Fabrizio; Brady, Roscoe O.; Mariani, Giuliano; Cappellini, Maria Domenica

doi:10.3324/haematol.12379

Cited by 57 publications

(49 citation statements)

References 36 publications

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“…BMI can be measured using scintigraphic imaging with semi-quantitative assessment; however, whereas it is widely available, this method has low specificity, and physiological excretion of markers hampers assessment of the abdominal region. Recently, Di Rocco et al [3] have normalized these methods so that their results are now comparable, allowing clinicians and radiologists to use any one of these methods ( Table 3).…”

Section: Recommendations For Pediatric Patientsmentioning

confidence: 97%

“…Although GD has a continuous spectrum of severity, it is traditionally classified into three forms: type 1 (chronic; lacking early onset neuronopathy), type 2 (acute; with early onset neuronopathy), and type 3 (chronic; with early onset neuronopathy) [1]. Type 1 GD accounts for the vast majority of cases, with an incidence of approximately 1/40-60,000 in the general population [2,3] and 1/500 in the Ashkenazy population [4].…”

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confidence: 99%

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Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

et al. 2014

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Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.

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Section: Recommendations For Pediatric Patientsmentioning

confidence: 97%

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confidence: 99%

Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

et al. 2014

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“…In 2008 Professor Di Rocco published the Gaucher Severity Score Index for type I patients (GauSS-I). GauSS-I involves a maximum of 42 points distributed over six domains (skeletal, haematological, biomarkers, visceral, lung, and neurological) with unequally weighted parameters that allows its use each time that patients come to the clinic [13]. Recently, Professor Weinreb published a very simple score in 2010: the Gaucher Disease type I severity scoring system (GD-DS3), which focuses on bone, hematologic, and visceral aspects.…”

Section: Phenotypic Quantification: Quantification Of the Phenotype Imentioning

confidence: 99%

The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease

Torralba-Cabeza¹,

Olivera

Sierra-Monzón

2018

Preprint

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ABSTRACT:Managing the multisystemic symptoms of type I Gaucher Disease (GD) requires a multidisciplinary team approach that includes disease-specific treatments, as well as supportive care. This involves a range of medical specialists, general practitioners, supportive care providers, and patients. Phenotype classification and the setting of treatment goals are important for optimizing the management of type I GD, and providing personalized care. The ability to classify disease severity using validated measurement tools allows the standardization of patient monitoring, and the measurement of disease progression and treatment response. Defining treatment goals is useful to provide a benchmark for assessing treatment response, and managing the expectations of patients and their families. Although treatment goals will vary depending on disease severity, they include the stabilization, improvement or reversal

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“…In 2008, we published a severity score index, the Gaucher disease Severity Score Index-Type I (GauSSI-I) [11], a useful tool for measuring both global disease severity and the severity of single organ involvement (e.g., bone, lung, viscera); moreover, it can be used for optimising ERT dosage and monitoring treatment efficacy. However, GauSSI-I also assigns individual scores to abnormalities that cannot be modified by cause-specific therapy -splenectomy, prosthesis, Parkinson disease/parkinsonism, and pulmonary hypertension -so that a low GauSSI-I score cannot be considered equivalent to MDA.…”

Section: Introductionmentioning

confidence: 99%