Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

Giraldo, Pilar; Pérez‐López, Jordi; Núñez, Ramiro; Puebla, R. Fernández de la; Luño, Elisa; Saura-Grau, Salvador; Bureo, Juan Carlos; Plaza, Sylvia; Serna, Javier de la

doi:10.1016/j.bcmd.2015.10.001

Cited by 29 publications

(32 citation statements)

References 20 publications

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“…Our patient demographics were similar to that of the previously described Spanish cohort . Our group was slightly older (51.31 ± 14.4 years compared to 44.8 ± 16.6 years), men were 43% of our group, compared to 53%, and ERT was prescribed for 75% of our group, compared to 72% of the Spanish cohort.…”

Section: Discussionsupporting

confidence: 78%

“…Our patient demographics were similar to that of the previously described Spanish cohort. (22) Our group was slightly older (51.31 AE 14.4 years compared to 44.8 AE 16.6 years), men were 43% of our group, compared to 53%, and ERT was prescribed for 75% of our group, compared to 72% of the Spanish cohort. In the Spanish cohort, 36% of the patients had osteopenia or osteoporosis, whereas in our group 62% had osteopenia and 6% had osteoporosis.…”

Section: Discussionmentioning

confidence: 54%

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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: 78%

Section: Discussionmentioning

confidence: 54%

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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“…Past studies involving adult patients (e.g. Giraldo, Solano, Pérez-Calvo, Giralt, & Rubio-Félix, 2005;Giraldo et al, 2016;Hayes et al, 1998;Masek et al, 1999) demonstrated the positive roles of symptom control, non-splenectomy and ERT in HRQoL assessments.…”

Section: Discussionmentioning

confidence: 99%

Health-related quality of life in children and adolescents living with Gaucher disease and their parents

Remor

Baldellou

2018

Health Psychology and Behavioral Medicine

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Objective: The health-related quality of life (HRQoL), clinical status and perceived burden of disease in children and adolescents with Gaucher Disease (GD) were assessed. Method: A Spanish multicenter collaboration study involving 13 hospitals was performed to evaluate pediatric patients with GD (n = 17, ages 5-18; n = 3, ages 2-4) and their parents (n = 20) using a HRQoL measure (PedsQL 4.0) and a survey on the perceived burden of the disease. Three children under five years old were evaluated by parent proxy-report. Relevant medical and sociodemographical characteristics were recorded. Results: Sixty-nine percent of the participants with GD had mild and 31% had moderate severity level, all receiving enzyme replacement therapy (ERT). HRQoL was associated with the severity score index and was adjusted for age. Age was related to school functioning (older patients had lower scores), and female patients reported worse school functioning than males. Symptoms such as bone, joint or abdominal pain, bleeding, and fatigue were negatively associated with HRQoL. Perceptions of the burden related to GD, such as feeling ill and feeling sad, were negatively associated with HRQoL. Although the PedsQL scores of children and parents showed concordance, patterns of association between symptoms and perceived burden differed between children and parents. No associations were observed between HRQoL scores and time on ERT or ERT dosage. Conclusion: HRQoL perceptions were affected by clinical status, observable and subjective symptoms, feelings of burden related to the disease, and patient characteristics (e.g. age and gender). Aspects of the disease that affect HRQoL may be perceived differently by children and parents.

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“… 45 > 16 Pompe disease [ 119 ] PGWBI Anxiety, depression, positive well-being, self-control, general health, vitality 22 > 18 PKU [ 133 ] PLC Emotional, practical and social impact, disease-specific symptoms, diet and therapeutic impact 40 Adolescents and adults Galactosemia [ 79 ], PKU [ 93 ] SIP-136 Sleep and rest, eating, work, home management, recreation and pastimes, ambulation, mobility, body care and movement, social interaction, alertness behavior, emotional behavior, communication 136 Adolescents, adults and elderly MELAS [ 69 ] SIP-68 Somatic autonomy, mobility control, mobility range, social behaviour, emotional stability, psychological autonomy/communication 68 Adolescents, adults and elderly Niemann-Pick disease type C [ 72 ] SF-36 Physical functioning, role limitations due to physical health, body pain, general health, vitality, social functioning, role limitations due to emotional problems, and mental health. 36 > 14 Acute porphyrias [ 68 ], carnitine palmitoyltransferase II deficiency [ 158 ], cystinuria [ 143 ], Fabry disease [ 52 – 57 , 87 , 92 , 107 – 111 , 132 , 141 , 145 , 147 , 159 – 162 ], familial hypercholesterolemia [ 95 , 112 ], Gaucher disease [ 60 , 61 , 98 , 99 , 113 , 114 , ...…”

Section: Resultsmentioning

confidence: 99%

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Pascoal

Brasil

Francisco

et al. 2018

Orphanet J Rare Dis

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BackgroundHealth-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of patient and/or observer reported outcome measures (PROMs or ObsROMs) as informative and reliable tools for HrQoL assessment. Inherited Metabolic Diseases (IMDs) are a group of heterogeneous conditions with phenotypes ranging from mild to severe and mostly lacking effective therapies. Consequently, HrQoL evaluation is particularly relevant.ObjectivesWe aimed to: (1) identify patient and/or caregiver-reported HrQoL instruments used among IMDs; (2) identify the main results of the application of each HrQoL tool and (3) evaluate the main limitations of HrQoL instruments and study design/methodology in IMDs.MethodsA scoping review was conducted using methods outlined by Arksey and O’Malley. Additionally, we critically analysed each article to identify the HrQoL study drawbacks.ResultsOf the 1954 studies identified, 131 addressed HrQoL of IMDs patients using PROMs and/or ObsROMs, both in observational or interventional studies. In total, we identified 32 HrQoL instruments destined to self- or proxy-completion; only 2% were disease-specific. Multiple tools (both generic and disease-specific) proved to be responsive to changes in HrQoL; the SF-36 and PedsQL questionnaires were the most frequently used in the adult and pediatric populations, respectively. Furthermore, proxy data often demonstrated to be a reliable approach complementing self-reported HrQoL scores. Nevertheless, numerous limitations were identified especially due to the rarity of these conditions.ConclusionsHrQoL is still not frequently assessed in IMDs. However, our results show successful examples of the use of patient-reported HrQoL instruments in this field. The importance of HrQoL measurement for clinical research and therapy development, incites to further research in HrQoL PROMs’ and ObsROMs’ creation and validation in IMDs.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0953-9) contains supplementary material, which is available to authorized users.

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Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status

Cited by 29 publications

References 20 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

Health-related quality of life in children and adolescents living with Gaucher disease and their parents

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

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