Regarding the estimations of people affected by rare diseases

Vicente, Esther; Pruneda, Laura; Ardanaz, Eva

doi:10.1038/s41431-020-00763-z

Cited by 4 publications

(6 citation statements)

References 7 publications

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“…Certainly, autoimmune bullous diseases (pemphigus vulgaris and bullous pemphigoid) and keratinization disorders (ichthyosis) represent the most common. In fact, it is estimated a prevalence of 18.0/100.000 for pemphigus, 26.0/100.000 for bullous pemphigoid, and 16.6/100.000 for X‐linked recessive ichthyosis 1,2 . Currently, the Section of Clinical Dermatology, Department of Integrated Activities of Public Health, Pharmacology and Dermatology of the University of Naples Federico II, is one of the Italian accredited centers specifically identified by the National Health System to provide diagnostic and therapeutic services for rare diseases.…”

Section: Clinical Setting 2020 2021mentioning

confidence: 99%

“…In fact, it is estimated a prevalence of 18.0/100.000 for pemphigus, 26.0/100.000 for bullous pemphigoid, and 16.6/100.000 for X‐linked recessive ichthyosis. 1 , 2 Currently, the Section of Clinical Dermatology, Department of Integrated Activities of Public Health, Pharmacology and Dermatology of the University of Naples Federico II, is one of the Italian accredited centers specifically identified by the National Health System to provide diagnostic and therapeutic services for rare diseases. This center is an active actor of the Technical Working Group for the drafting of Italian guidelines and shares treatment algorithm for rare diseases in dermatology.…”

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confidence: 99%

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Impact of the COVID‐19 pandemic on hospital admissions of patients with rare diseases: an experience of a Southern Italy referral center

2022

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Section: Clinical Setting 2020 2021mentioning

confidence: 99%

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confidence: 99%

Impact of the COVID‐19 pandemic on hospital admissions of patients with rare diseases: an experience of a Southern Italy referral center

2022

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“…Correspondingly, about 18–30 million persons in the EU and 262–446 million persons globally [ 2 ] are affected by one of the 6.000–8.000 known rare diseases [ 3 ]. However, estimations about prevalence have been discussed to be over- or underestimated [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study

Inhestern,

Otto,

Brandt

et al. 2024

Orphanet J Rare Dis

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Background Rare diseases are often complex, chronic and many of them life-shortening. In Germany, healthcare for rare diseases is organized in expert centers for rare diseases. Most patients additionally have regional general practicioners and specialists for basic medical care. Thus, collaboration and information exchange between sectors is highly relevant. Our study focuses on the patient and caregiver perspective on intersectoral and interdisciplinary care between local healthcare professionals (HCPs) and centers for rare diseases in Germany. The aims were (1) to investigate patients’ and caregivers’ general experience of healthcare, (2) to analyse patients’ and caregivers’ perception of collaboration and cooperation between local healthcare professionals and expert centers for rare diseases and (3) to investigate patients’ and caregivers’ satisfaction with healthcare in the expert centers for rare diseases. Results In total 299 individuals of whom 176 were patients and 123 were caregivers to pediatric patients participated in a survey using a questionnaire comprising several instruments and constructs. Fifty participants were additionally interviewed using a semistructured guideline. Most patients reported to receive written information about their care, have a contact person for medical issues and experienced interdisciplinary exchange within the centers for rare diseases. Patients and caregivers in our sample were mainly satisfied with the healthcare in the centers for rare diseases. The qualitative interviews showed a rather mixed picture including experiences of uncoordinated care, low engagement and communication difficulties between professionals of different sectors. Patients reported several factors that influenced the organization and quality of healthcare e.g. engagement and health literacy in patients or engagement of HCPs. Conclusions Our findings indicate the high relevance of transferring affected patients to specialized care as fast as possible to provide best medical treatment and increase patient satisfaction. Intersectoral collaboration should exceed written information exchange and should unburden patients of being and feeling responsible for communication between sectors and specialists. Results indicate a lack of inclusion of psychosocial aspects in routine care, which suggests opportunities for necessary improvements.

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“…Some chronic diseases, such as paediatric transplantation, also belong to the group of rare diseases (RDs), i.e., conditions with a prevalence of less than 5 cases per 10,000 inhabitants, also including criteria of severity and chronicity, which affect the daily lives of around 30 million European Union (EU) citizens [ 5 , 6 , 7 ]. Their low frequency means that these RDs are poorly understood by professionals and require a great effort on the part of families, due to the limitations and lack of resources in the system to attend to these pathologies.…”

Section: Introductionmentioning

confidence: 99%

“…Their low frequency means that these RDs are poorly understood by professionals and require a great effort on the part of families, due to the limitations and lack of resources in the system to attend to these pathologies. Most cases occur in children, although the prevalence is higher in adults due to the early mortality of some serious childhood diseases and the influence on rates of certain diseases that occur later in life, resulting in a different cumulative prevalence depending on the condition [ 6 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Social Resources for Transplanted Children and Families in European Union Hospitals of ERN TransplantChild

et al. 2021

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Social well-being is an intrinsic part of the current concept of health. In the context of chronic disease, there are many challenges we face in order to provide social well-being to patients and their families, even more if we talk about rare diseases. TransplantChild, a European Reference Network (ERN) in paediatric transplantation, works to improve the quality of life of transplanted children. It is not possible to improve the quality of life if the human and material resources are not available. With this study, we want to identify the economic aids, facilities, services, and financed products that are offered to families in different European centres. We also want to find out who provides these resources and the accessibility to them. We designed an ad hoc survey using the EU Survey software tool. The survey was sent to representatives of the 26 ERN members. In this article we present the results obtained in relation to two of the aspects analysed: long-term financial assistance and drugs, pharmaceuticals and medical devices. Some resources are equally available in all participating centres but there are significant differences in others, such as education aids or parapharmacy product financing. A local analysis of these differences is necessary to find feasible solutions for equal opportunities for all transplanted children in Europe. The experience of centres that already provide certain solutions successfully may facilitate the implementation of these solutions in other hospitals.

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Regarding the estimations of people affected by rare diseases

Cited by 4 publications

References 7 publications

Impact of the COVID‐19 pandemic on hospital admissions of patients with rare diseases: an experience of a Southern Italy referral center

Impact of the COVID‐19 pandemic on hospital admissions of patients with rare diseases: an experience of a Southern Italy referral center

Patient experiences of interprofessional collaboration and intersectoral communication in rare disease healthcare in Germany – a mixed-methods study

Social Resources for Transplanted Children and Families in European Union Hospitals of ERN TransplantChild

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