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

Torralba-Cabeza, Miguel-Ángel; Olivera, Susana; Sierra-Monzón, José L

doi:10.3390/diseases6030069

Cited by 10 publications

(5 citation statements)

References 33 publications

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“…The first benefits of multidisciplinary work were reported by the oncologists55 who are historically champions of comprehensive care of their patients. In the rare diseases community, similar attempts have been successful in treating patients with Gaucher disease 56…”

Section: Introductionmentioning

confidence: 99%

Hot topics in Fabry disease

Cairns

Müntze

Gernert

et al. 2018

Postgraduate Medical Journal

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Fabry disease is a rare inborn error of the enzyme α-galactosidase (α-Gal) and results in lysosomal substrate accumulation in tissues with a wide range of clinical presentations. The disease has attracted a lot of interest over the last years, in particular since enzyme replacement therapy (ERT) has become widely available in 2001. With rising awareness and rising numbers of (diagnosed) patients, physicians encounter new challenges. Over 900 α-Gal gene mutations are currently known, some with doubtful clinical significance, posing diagnostic and prognostic difficulties for the clinician and a lot of uncertainty for patients. Another challenge are patients who develop neutralising antibodies to ERT, which possibly leads to reduced therapy effectiveness. In this article, we summarise the latest developments in the science community regarding diagnostics and management of this rare lysosomal storage disorder and offer an outlook to future treatments.

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Section: Introductionmentioning

confidence: 99%

Hot topics in Fabry disease

Cairns

Müntze

Gernert

et al. 2018

Postgraduate Medical Journal

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“…In line with previous studies, we agree that the lack of adequate information and training programs, as well as of a national medical network able to offer consultancy support, leaves the general practitioner with a marginal role and increases the number of self-diagnoses [24]. As already reported, drawing up multidisciplinary integrated paths is crucial in order to allow medical staff to share care protocols based on best practices and to ensure adequate and effective treatment for patients with a rare disease [33].…”

Section: Discussionmentioning

confidence: 62%

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Baldelli

Gallo

Crimi³

et al. 2019

Orphanet J Rare Dis

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BackgroundPoland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life of patients and kindred. This study aims to explore healthcare experiences of the diagnosis of patients affected by PS and to investigate the factors associated with diagnostic delay in Italy.ResultsSeventy-two patients affected by PS were asked to fill in a self- administered questionnaire on: a) diagnostic path; b) perceived quality of care received after diagnosis; c) knowledge of the rights and the socio-economic hardships related to their disease; d) evaluation of the integration of various professional skills involved in the diagnostic and therapeutic approach; e) perception of the social support provided by the Italian Association of Poland Syndrome (AISP). The average age at diagnosis was around 14 years; diagnosis was made at birth in only 31.58% of cases. Although typical symptomatology had appeared on average at an early age (4 months), only 23 patients (40.35%) received an early diagnosis (within the first year of life). Just over half of the patients (n = 30) were diagnosed in their region of origin, while 27 were diagnosed elsewhere. Furthermore, 12.28% were self-diagnoses. Among the patients who were diagnosed outside their region, 15 (88.24%) stated they had foregone some visits or treatments owing to costs and/or organizational issues.ConclusionsAn analysis of the patients’ experiences highlights several gaps and a lack of homogeneity in the diagnostic and therapeutic follow-up of PS patients in Italy. A specific national diagnostic and therapeutic path is essential to guarantee patients complete and appropriate health services, compliant with the ethical principles of non-discrimination, justice and empathy. Implementation of an effective information and research network and empowerment of patients’ associations are necessary conditions to encourage clinical collaboration and improve the quality of life of people living with rare diseases.

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“…[23] Management requires an individualised multidisciplinary approach, and ERT is the pharmacotherapeutic treatment of choice for symptomatic patients. [23,24,[29][30][31] Imiglucerase is the most widely used ERT worldwide. It has revolutionised the treatment of GD and markedly improved the prognosis of patients with non-neuropathic forms of the disease, while virtually eliminating the need for therapeutic splenectomy.…”

Section: Researchmentioning

confidence: 99%

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

Sevittz

Laher²,

Varughese³

et al. 2021

SAMJ

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Background. Gaucher disease (GD) is a rare inherited autosomal recessive metabolic disorder with a prevalence in the general population of ~1 per 100 000. To optimise the recognition, diagnosis and management of patients with GD in South Africa (SA), it is important to have an understanding of local patterns of presentation of the disease. Objectives. To describe the baseline pretreatment characteristics of the SA cohort of patients enrolled into the International Collaborative Gaucher Group (ICGG) Gaucher Registry whowere treated with imiglucerase (Cerezyme; Sanofi Genzyme). Methods. The ICGG Gaucher Registry is an observational, longitudinal, international database that tracks the clinical, demographic, genetic, biochemical and therapeutic characteristics of patients with GD globally, irrespective of disease severity, treatment status or treatment choice. The study population included all SA patients reported in the ICGG Gaucher Registry as of 1 May 2020. Results. The registry included 49 SA GD patients, of whom 32 received imiglucerase as first primary GD therapy. All the patients had GD type 1, 59.4% were female, and mean and median ages at diagnosis were 14.7 and 9.8 years, respectively. The most common genotype was N370S/N370S (37.5%). At treatment initiation, 30.0% of patients had been splenectomised. Among patients for whom data were available, anaemia was present in one-third of non-splenectomised patients and 12.5% of those with splenectomy, and moderate or severe thrombocytopenia was reported in two-thirds of non-splenectomised patients. Bone pain was present in 30.8% and 57.1% of non- splenectomised and splenectomised patients, respectively. No bone crises were reported, and data relating to other bone complications were available for only ≤3 patients. Conclusions. Haematological findings and bone pain in this group are similar to those in the global ICGG Gaucher Registry cohort. Lack of baseline data for other bone complications limits interpretation in that regard. Clinicians who treat patients with GD are encouraged to submit accurate, complete and up-to-date information so that comprehensive data for the subset of SA GD patients can be maintained to improve recognition and diagnosis, and guide appropriate and effective use of treatment for SA patients.

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

Cited by 10 publications

References 33 publications

Hot topics in Fabry disease

Hot topics in Fabry disease

Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey

Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry

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