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Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects

A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 42162

Special Issue Editors

Dr. Óscar Zurriaga

E-Mail Website
Guest Editor
1. CIBER de Epidemiología y Salud Pública, 28029 Madrid, Spain
2. FISABIO Foundation, 46020 Valencia, Spain
3. Dirección General de Salut Pública i Adiccions, Conselleria de Sanitat Universal y Salut Pública, 46020 Valencia, Spain
4. Departament de Medicina Preventiva, Salut Pública, Ciències de l’Alimentación, Toxicología i Medicina Legal, Universitat de València, 46010 Valencia, Spain
Interests: rare diseases; diagnosis delay; treatment access; prevention; registries; rare cancers; technological platforms; rare diseases epidemiology; public health surveillance
Special Issues, Collections and Topics in MDPI journals
Dr. Clara Cavero-Carbonell

E-Mail Website
Guest Editor
Rare Diseases Research Unit, FISABIO Foundation (Foundation for the Promotion of Health and Biomedical Research in the Valencia Region), 46020 Valencia, Spain
Interests: rare diseases; congenital anomalies; prevention; registries; epidemiology; pharmacoepidemiology; public health surveillance; prenatal diagnosis; pregnancy outcomes

Special Issue Information

Dear Colleagues,

In recent years, important advances have been made in the diagnosis and treatment of rare diseases, but there is still a wide field of aspects in which to improve the understanding of these diseases.

Three years ago, in 2018, a Special Issue about rare diseases was published in the International Journal of Public Health and Environmental Research. The papers were related to results obtained in registries and primary care settings, quality of recording systems, undiagnosed patients’ programs, quality of life, or accessibility to services.

Now is time to actualize some of these aspects and discuss them in more depth. Diagnosis delay or diagnostic odyssey, the results of rare disease networks, and new therapies applied all continue to be relevant topics.

Furthermore, the aim of this Special Issue is to report on recent news in the field, e.g., methodologies or designs applied to the epidemiology of rare diseases such as qualitative techniques or syndromic surveillance. The evaluation of strategies or plans for rare diseases at country or regional level is also an emerging topic.

More publications are needed on ethical, codification issues and data protection aspects.

We encourage rare diseases researchers, clinicians, epidemiologists, and patient organizations to join us in this new edition of the Special Issue on rare diseases and their challenges.

Dr. Óscar Zurriaga
Dr. Clara Cavero-Carbonell
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2500 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • orphan drug
  • diagnosis delay
  • rare diseases registries
  • rare cancers
  • clinical genetics
  • patients’ interests
  • quality of life
  • qualitative techniques
  • reference networks

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Published Papers (16 papers)

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15 pages, 753 KiB  
Article
Quality-Adjusted Life Years in Erythropoietic Protoporphyria and Other Rare Diseases: A Patient-Initiated EQ-5D Feasibility Study
by Jasmin Barman-Aksözen, Anna-Elisabeth Minder, Francesca Granata, Mårten Pettersson, Cornelia Dechant, Mehmet Hakan Aksözen and Rocco Falchetto
Int. J. Environ. Res. Public Health 2023, 20(7), 5296; https://doi.org/10.3390/ijerph20075296 - 28 Mar 2023
Cited by 2 | Viewed by 2091
Abstract
Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism characterised by painful phototoxic burn injuries after short exposure times to visible light. Patients with EPP are highly adapted to their condition which makes the quantification of their health-related quality of life (QoL) [...] Read more.
Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism characterised by painful phototoxic burn injuries after short exposure times to visible light. Patients with EPP are highly adapted to their condition which makes the quantification of their health-related quality of life (QoL) challenging. In the presented patient-initiated feasibility study, we describe a new approach to assess treatment benefits in EPP by measuring QoL with the generic EQ-5D instrument in five patients under long-term (≥two years) treatment with afamelanotide, the first approved therapy for EPP. For the study, we selected patients with EPP who in addition were affected by an involuntary treatment interruption (caused by a temporary reimbursement suspension) because we hypothesized that individuals who had previously unlearned their adaptation are better able to assess their life without treatment than treatment-naïve patients. QoL under treatment was comparable to the age-matched population norm, and retrospective results for a treatment interruption and phototoxic reaction time point were comparable to the QoL of patients with chronic neuropathic pain and acute burn injuries, respectively. The results were accepted by the National Institute for Health and Care Excellence in England for their evaluation of the cost-effectiveness of afamelanotide, i.e., the calculation of quality-adjusted life years. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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11 pages, 317 KiB  
Article
Hospital Length of Stay and Surgery among European Children with Rare Structural Congenital Anomalies—A Population-Based Data Linkage Study
by Ester Garne, Joachim Tan, Mads Damkjaer, Elisa Ballardini, Clara Cavero-Carbonell, Alessio Coi, Laura Garcia-Villodre, Mika Gissler, Joanne Given, Anna Heino, Sue Jordan, Elizabeth Limb, Maria Loane, Amanda J. Neville, Anna Pierini, Anke Rissmann, David Tucker, Stine Kjaer Urhoj and Joan Morris
Int. J. Environ. Res. Public Health 2023, 20(5), 4387; https://doi.org/10.3390/ijerph20054387 - 1 Mar 2023
Cited by 1 | Viewed by 1192
Abstract
Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995–2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. [...] Read more.
Little is known about morbidity for children with rare structural congenital anomalies. This European, population-based data-linkage cohort study analysed data on hospitalisations and surgical procedures for 5948 children born 1995–2014 with 18 rare structural congenital anomalies from nine EUROCAT registries in five countries. In the first year of life, the median length of stay (LOS) ranged from 3.5 days (anotia) to 53.8 days (atresia of bile ducts). Generally, children with gastrointestinal anomalies, bladder anomalies and Prune-Belly had the longest LOS. At ages 1–4, the median LOS per year was ≤3 days for most anomalies. The proportion of children having surgery before age 5 years ranged from 40% to 100%. The median number of surgical procedures for those under 5 years was two or more for 14 of the 18 anomalies and the highest for children with Prune-Belly at 7.4 (95% CI 2.5–12.3). The median age at first surgery for children with atresia of bile ducts was 8.4 weeks (95% CI 7.6–9.2) which is older than international recommendations. Results from the subset of registries with data up to 10 years of age showed that the need for hospitalisations and surgery continued. The burden of disease in early childhood is high for children with rare structural congenital anomalies. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
13 pages, 1898 KiB  
Article
Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations
by Elisa Gallego, Greta Arias-Merino, Germán Sánchez-Díaz, Ana Villaverde-Hueso, Manuel Posada de la Paz and Verónica Alonso-Ferreira
Int. J. Environ. Res. Public Health 2023, 20(5), 4374; https://doi.org/10.3390/ijerph20054374 - 28 Feb 2023
Cited by 1 | Viewed by 1738
Abstract
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data [...] Read more.
Familial Mediterranean Fever (FMF) is a rare, hereditary, auto-inflammatory disease. The aims of this study were to explore the time trend and geographical distribution of hospitalizations in Spain from 2008 to 2015. We identified hospitalizations of FMF from the Spanish Minimum Basic Data Set at hospital discharge, using ICD-9-CM code 277.31. Age-specific and age-adjusted hospitalization rates were calculated. The time trend and the average percentage change were analyzed using Joinpoint regression. Standardized morbidity ratios were calculated and mapped by province. A total of 960 FMF-related hospitalizations (52% men) were identified across the period 2008–2015, with an increase in hospitalizations of 4.9% per year being detected (p < 0.05). The risk of hospitalization was higher than expected for the national total (SMR > 1) in 13 provinces (5 in the Mediterranean area), and lower (SMR < 1) in 14 provinces (3 in the Mediterranean area). There was an increase in hospitalizations of patients with FMF in Spain throughout the study period, with a risk of hospitalization that was higher, though not exclusively so, in provinces along the Mediterranean coast. These findings contribute to the visibility of FMF and provide useful information for health planning. Further research should take into account new population-based information, in order to continue monitoring this disease. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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12 pages, 1429 KiB  
Article
Oesophageal Atresia: Prevalence in the Valencian Region (Spain) and Associated Anomalies
by Adriana Agurto-Ramírez, Laura García-Villodre, Ana Ruiz-Palacio, Berta Arribas-Díaz, Laia Barrachina-Bonet, Lucía Páramo-Rodríguez, Óscar Zurriaga and Clara Cavero-Carbonell
Int. J. Environ. Res. Public Health 2023, 20(5), 4042; https://doi.org/10.3390/ijerph20054042 - 24 Feb 2023
Viewed by 1232
Abstract
The objective was to determine the prevalence of oesophageal atresia (OA) and describe the characteristics of OA cases diagnosed before the first year of life, born between 2007 and 2019, and residents in the Valencian Region (VR), Spain. Live births (LB), stillbirths (SB), [...] Read more.
The objective was to determine the prevalence of oesophageal atresia (OA) and describe the characteristics of OA cases diagnosed before the first year of life, born between 2007 and 2019, and residents in the Valencian Region (VR), Spain. Live births (LB), stillbirths (SB), and termination of pregnancy for fetal anomaly (TOPFA) diagnosed with OA were selected from the Congenital Anomalies population-based Registry of VR (RPAC-CV). The prevalence of OA per 10,000 births with 95% confidence interval was calculated, and socio-demographic and clinical variables were analyzed. A total of 146 OA cases were identified. The overall prevalence was 2.4/10,000 births, and prevalence by type of pregnancy ending was 2.3 in LB and 0.03 in both SB and TOPFA. A mortality rate of 0.03/1000 LB was observed. A relationship was found between case mortality and birth weight (p-value < 0.05). OA was primarily diagnosed at birth (58.2%) and 71.2% of the cases were associated with another congenital anomaly, mainly congenital heart defects. Significant variations in the prevalence of OA in the VR were detected throughout the study period. In conclusion, a lower prevalence in SB and TOPFA was identified compared to EUROCAT data. As several studies have identified, an association between OA cases and birth weight was found. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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31 pages, 4026 KiB  
Article
Literature Review on Health Emigration in Rare Diseases—A Machine Learning Perspective
by Małgorzata Skweres-Kuchta, Iwona Czerska and Elżbieta Szaruga
Int. J. Environ. Res. Public Health 2023, 20(3), 2483; https://doi.org/10.3390/ijerph20032483 - 30 Jan 2023
Cited by 2 | Viewed by 2314
Abstract
The article deals with one of the effects of health inequalities and gaps in access to treatments for rare diseases, namely health-driven emigration. The purpose of the paper is to systematize knowledge about the phenomenon of health emigration observed among families affected by [...] Read more.
The article deals with one of the effects of health inequalities and gaps in access to treatments for rare diseases, namely health-driven emigration. The purpose of the paper is to systematize knowledge about the phenomenon of health emigration observed among families affected by rare diseases, for which reimbursed treatment is available, but only in selected countries. The topic proved to be niche; the issue of “health emigration in rare diseases” is an area for exploration. Therefore, the further analysis used text mining and machine learning methods based on a database selected based on keywords related to this issue. The results made it possible to systematize the guesses made by researchers in management and economic fields, to identify the most common keywords and thematic clusters around the perspective of the patient, drug manufacturer and treatment reimbursement decision-maker, and the perspective integrating all the others. Since the topic of health emigration was not directly addressed in the selected sources, the authors attempted to define the related concepts and discussed the importance of this phenomenon in managing the support system in rare diseases. Thus, they indicated directions for further research in this area. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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14 pages, 2918 KiB  
Article
Profile of Drug Utilization in Patients with Rare Diseases in Tuscany, Italy: A Population-Based Study
by Francesca Gorini, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Silvia Baldacci and Alessio Coi
Int. J. Environ. Res. Public Health 2023, 20(2), 937; https://doi.org/10.3390/ijerph20020937 - 4 Jan 2023
Viewed by 1300
Abstract
Patients with rare diseases (RDs) generally have delayed diagnosis and misdiagnosis, which lead to inappropriate care or the need to modify treatment during the course of the disease. The medical care of RD patients can be further complicated by the presence of comorbidities. [...] Read more.
Patients with rare diseases (RDs) generally have delayed diagnosis and misdiagnosis, which lead to inappropriate care or the need to modify treatment during the course of the disease. The medical care of RD patients can be further complicated by the presence of comorbidities. In this population-based study, we evaluated the prevalence, intensity of use, and consumption of drugs prescribed to RD patients residing in Tuscany (Italy) in the years 2008–2018. Data from the Registry of Rare Diseases of Tuscany were integrated with information retrieved from regional pharmaceutical prescription databases. The overall prevalence of drug use in the RD patients was 85.4%. Drugs for the alimentary tract and metabolism and antiinfectives for systemic use showed the highest prevalence of use, while drugs for the nervous system had the highest intensity of use only in the pediatric patients. The adults exhibited a female preponderance in terms of the prevalence of use and drug consumption in almost all the age groups and therapeutic categories. Conversely, a higher prevalence of use was observed in the male children. These results provide relevant insights into drug profiles in RD patients, representing a first step for future analyses to monitor changes in drug utilization in patients with RDs over time. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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12 pages, 608 KiB  
Article
The Association between the Respiratory System and Upper Limb Strength in Males with Duchenne Muscular Dystrophy: A New Field for Intervention?
by Agnieszka Sobierajska-Rek, Eliza Wasilewska, Karolina Śledzińska, Joanna Jabłońska-Brudło, Sylwia Małgorzewicz, Andrzej Wasilewski and Dominika Szalewska
Int. J. Environ. Res. Public Health 2022, 19(23), 15675; https://doi.org/10.3390/ijerph192315675 - 25 Nov 2022
Cited by 3 | Viewed by 1674
Abstract
Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known about the relationship between the functioning of the respiratory system and the hand grip—a function which remains long preserved. [...] Read more.
Progressive, irreversible muscle weakness is the leading symptom of Duchenne muscular dystrophy (DMD), often resulting in death from respiratory muscle failure. Little is known about the relationship between the functioning of the respiratory system and the hand grip—a function which remains long preserved. This study aimed to investigate the interdependence between muscle strength and the function of both hand grip and the respiratory system in patients with DMD. Materials and Method: The study included cohort patients, aged 6–17, with DMD, recruited from the Rare Disease Centre, Gdansk, Poland. Clinical status (Vignos scale, Brook scale), pulmonary function (respiratory muscle strength—MIP, MEP); spirometry (FEV1; FVC), as well as upper limb function (performance of the upper limb—PUL 2.0) and hand grip strength (HGS) (hand-held dynamometer) were evaluated in all participants. Results: Finally, 53 boys (mean age 11.41 ± 3.70 years, 25 non-ambulant) were included. Each of the participants presented a lower %pv of MIP (48.11 ± 27), MEP (38.11 ± 22), PUL (75.64 ± 27), and HGS (33.28 ± 18). There were differences between the ambulatory and non-ambulatory groups in values of MIP, MEP, FVC, PUL, HGS (p < 0.001 for all), and FEV1 (p < 0.013). There were correlations between PUL, HGS, and MIP (R = 0.56; R = 0.61, p < 0.001 both), MEP (R = 0.59; R = 0.62, p < 0.001), FVC (R = 0.77; R = 0.77, p < 0.001), and FEV1 (R = 0.77; R = 0.79; p < 0.001). These correlations were found for all participants, but non-ambulatory patients presented stronger relationships. Conclusions: 1. The pulmonary and upper limb functions were within the normal range in ambulatory and low in non-ambulatory patients with DMD, but the muscle strength of both systems was low, regardless of the stage of the disease. 2. There seems to be an interdependence between the respiratory system and upper limb strength in terms of muscle strength and function in DMD patients, which is stronger in non-ambulatory patients. This may be the basis for the creation of a new personalized plan in rehabilitation—the simultaneous rehabilitation of the respiratory and upper limb muscles. Further studies on this theory should be conducted. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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10 pages, 1490 KiB  
Article
Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients
by Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque and Eugenia Cisneros-Barroso
Int. J. Environ. Res. Public Health 2022, 19(18), 11721; https://doi.org/10.3390/ijerph191811721 - 17 Sep 2022
Cited by 1 | Viewed by 1477
Abstract
The purpose of this study was to explore the occupational performance and needs of patients with hereditary transthyretin amyloidosis (ATTRv). A semi-structured interview was conducted by an occupational therapist with 44 patients with Val50Met-ATTRv recruited through patient associations. The interview addressed three related [...] Read more.
The purpose of this study was to explore the occupational performance and needs of patients with hereditary transthyretin amyloidosis (ATTRv). A semi-structured interview was conducted by an occupational therapist with 44 patients with Val50Met-ATTRv recruited through patient associations. The interview addressed three related dimensions. The first one, the physical dimension, was evaluated using the Spanish versions of the Barthel Index, the Lawton and Brody scale, and the Norfolk questionnaire; the second one, the psychological dimension, was assessed with the Warwick–Edinburgh Mental Well-Being Scale and the SF-36 questionnaire; and the third dimension, the occupational performance, was assessed through unstructured questions on daily occupations, work, roles, and hobbies given the lack of standardized scales. Twenty participants (45.4%) responded that the disease had affected their basic activities of daily living, twenty- four (54.5%) perceived an impact on their instrumental activities of daily living, and all the participants reported that the disease symptoms had affected their ability to perform advanced activities as well as their employment status. Only three patients (6.8%) reported a lack of psychological impairment following disease diagnosis. These findings suggest that a semi-structured interview conducted by an occupational therapist can provide essential information that should be considered for the implementation of occupational therapy programs targeting patients living with a diagnosis of ATTRv. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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16 pages, 1921 KiB  
Article
Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain
by Cristina Gimenez-Lozano, Lucía Páramo-Rodríguez, Clara Cavero-Carbonell, Francisca Corpas-Burgos, Aurora López-Maside, Sandra Guardiola-Vilarroig and Oscar Zurriaga
Int. J. Environ. Res. Public Health 2022, 19(16), 10366; https://doi.org/10.3390/ijerph191610366 - 19 Aug 2022
Cited by 12 | Viewed by 2553
Abstract
Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in [...] Read more.
Families with rare diseases (RDs) have unmet needs that are often overlooked by health professionals. Describing these needs and the impact of the disease could improve their medical care. A total of 163 surveys were obtained from patients visiting primary care centres in the Valencian Region (Spain), during 2015–2017, with a confirmed or suspected diagnosis of RD. Of the 84.7% with a confirmed diagnosis, 50.4% had a diagnostic delay exceeding one year, and it was more prevalent among adults (62.2%). Families with paediatric patients were in a worse economic situation, with lower incomes and higher monthly disease-related expenses (€300 on average). These expenses were incurred by 66.5% of families and were mainly for medication (40.3%). Among them, 58.5% reported not being able to afford adjuvant therapies. The disease had an impact on 73.1% of families, especially on their routine and emotional state. Expenses, needs, and impacts were more frequent among families of patients with a history of hospitalisation or deterioration. Patients with delayed diagnosis had a higher consumption of drugs prior to diagnosis. People affected by RDs in the Valencian Region need therapies to improve their autonomy and emotional state. Health professionals should be aware of these needs. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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13 pages, 607 KiB  
Article
Health-Related Quality of Life and Perceived Burden of Informal Caregivers of Patients with Rare Diseases in Selected European Countries
by Cristina Valcárcel-Nazco, Yolanda Ramallo-Fariña, Renata Linertová, Juan Manuel Ramos-Goñi, Lidia García-Pérez and Pedro Serrano-Aguilar
Int. J. Environ. Res. Public Health 2022, 19(13), 8208; https://doi.org/10.3390/ijerph19138208 - 5 Jul 2022
Cited by 13 | Viewed by 2496
Abstract
Most of rare disease (RD) patients are assisted in their homes by their family as informal caregivers, causing a substantial burden among family members devoted to care. The role of informal caregivers has been associated with increased levels of stress, poor physical/mental health [...] Read more.
Most of rare disease (RD) patients are assisted in their homes by their family as informal caregivers, causing a substantial burden among family members devoted to care. The role of informal caregivers has been associated with increased levels of stress, poor physical/mental health and impaired HRQOL. The present study assessed the impact on HRQOL and perceived burden of long-term informal caregiving, as well as the inter-relationships of individuals affected by different RD in six European countries, taking advantage of the data provided by the BURQOL-RD project (France, Germany, Italy, Spain, Sweden and UK). Correlation analysis was used to explore the relation between caregiver HRQOL and caregiver burden (Zarit Burden Interview). Multinomial logistic regression models were used to explore the role of explanatory variables on each domain of caregivers HRQOL measured by EQ-5D. Caregivers’ HRQOL is inversely correlated with burden of caring. Mobility dimension of EQ-5D was significantly associated with patients age, time devoted to care by secondary caregivers, patient gender and patient utility index. Patients’ age, burden scores and patient utility index significantly predict the capacity of caregivers to perform activities of daily living. Employed caregivers are less likely of reporting ‘slight problems’ in pain/discomfort dimensions than unemployed caregivers. The EQ-5D instrument is sensitive to measure differences in HRQOL between caregivers with different levels of burden of care. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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12 pages, 1541 KiB  
Article
Healthcare Burden of Rare Diseases: A Population-Based Study in Tuscany (Italy)
by Silvia Baldacci, Michele Santoro, Anna Pierini, Lorena Mezzasalma, Francesca Gorini and Alessio Coi
Int. J. Environ. Res. Public Health 2022, 19(13), 7553; https://doi.org/10.3390/ijerph19137553 - 21 Jun 2022
Cited by 3 | Viewed by 1671
Abstract
Patients with rare diseases (RDs) need tailored, continuous, and multidisciplinary hospital care. This retrospective cohort study aimed to analyse the healthcare burden of RD patients using a multi-database approach, by linking the data of the Rare Diseases Registry of Tuscany with the regional [...] Read more.
Patients with rare diseases (RDs) need tailored, continuous, and multidisciplinary hospital care. This retrospective cohort study aimed to analyse the healthcare burden of RD patients using a multi-database approach, by linking the data of the Rare Diseases Registry of Tuscany with the regional hospital discharge database. The study population included 21,354 patients diagnosed with a RD between 1 January 2000 and 31 December 2017. The healthcare burden was evaluated for all the RDs during 2009–2018 period. The hospitalisation rate (per 1000) decreased over the years, ranging from 606.9 in 2009 (95% CI: 589.2–625.0) to 443.0 in 2018 (95% CI: 433.2–453.0). A decrease in the average length of stay (LOS) was observed in the earlier years, followed by an increase up to a steady trend (8.3 days in 2018). The patients with RDs of metabolism and the genitourinary system showed the highest hospitalisation rate (903.3 and 644.0 per 1000, respectively). The patients with rare immune system disorders and diseases of the skin and subcutaneous tissue showed the highest LOS (9.7 and 9.5 days, respectively). The methodological approach presented in this population-based study makes it possible to estimate the healthcare burden of RDs, which is crucial in the decision-making and planning aimed at improving patient care. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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11 pages, 622 KiB  
Article
Transcultural Validation of a Spanish Version of the Quality of Life in Epidermolysis Bullosa Questionnaire
by Alvaro Rafael Villar Hernández, Fernando Molero Alonso, Álvaro Jesús Aguado Marín and Manuel Posada de la Paz
Int. J. Environ. Res. Public Health 2022, 19(12), 7059; https://doi.org/10.3390/ijerph19127059 - 9 Jun 2022
Cited by 5 | Viewed by 1723
Abstract
Introduction: Epidermolysis bullosa (EB) is a relatively infrequent genodermatosis for which there is still no cure, and which impacts the quality of life of those that are affected by it. The Quality of Life evaluation in Epidermolysis Bullosa (QoLEB) questionnaire was specifically developed [...] Read more.
Introduction: Epidermolysis bullosa (EB) is a relatively infrequent genodermatosis for which there is still no cure, and which impacts the quality of life of those that are affected by it. The Quality of Life evaluation in Epidermolysis Bullosa (QoLEB) questionnaire was specifically developed for English-speaking persons with EB. Objectives: To undertake the transcultural adaptation and analysis of the psychometric properties of a Spanish version of the QoLEB questionnaire. Method: We designed an observational study to implement the process of translation and validation of the scale in accordance with World Health Organisation guidelines. We assessed the content validity of the Spanish version with the participation of 33 adult patients who presented with four principal subtypes of EB. The subjects were examined and evaluated using the QoLEB and Short Form-36 (SF-36) questionnaires. Results: The Spanish version of the QoLEB displayed excellent internal consistency and content validity, α = 0.91. Test–retest reliability was likewise excellent (ps = 0.93), as was the reliability among subtypes (range ps = 0.82–0.93). The functional part of the QoLEB correlated well with the SF-36 physical component summary (ps = 0.70). The emotional QoLEB was moderately correlated with the SF-36 mental component summary (ps = 0.49). Significant discriminant validity existed between the global score of the questionnaire (p = 0.033) and the functional scale (p = 0.003). Conclusions: The Spanish version of the QoLEB questionnaire can be recommended for use in any subsequent studies seeking to assess the efficacy of possible treatments and care programmes in this group. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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14 pages, 2059 KiB  
Article
Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
by Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, Alba Ancochea-Díaz, Aitor Aparicio-García, Manuel Posada de la Paz and Verónica Alonso-Ferreira
Int. J. Environ. Res. Public Health 2022, 19(11), 6456; https://doi.org/10.3390/ijerph19116456 - 26 May 2022
Cited by 22 | Viewed by 3896
Abstract
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having [...] Read more.
Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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8 pages, 1174 KiB  
Article
Accessibility to Occupational Therapy Services for Hereditary Transthyretin Amyloidosis
by Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili and Eugenia Cisneros-Barroso
Int. J. Environ. Res. Public Health 2022, 19(8), 4464; https://doi.org/10.3390/ijerph19084464 - 7 Apr 2022
Cited by 3 | Viewed by 1671
Abstract
This study was designed to investigate the global utilization of occupational therapy (OT) services by patients with hereditary transthyretin amyloidosis (ATTRv) in Spain. The main objective was to find out whether these patients have access to OT services and the types of interventions [...] Read more.
This study was designed to investigate the global utilization of occupational therapy (OT) services by patients with hereditary transthyretin amyloidosis (ATTRv) in Spain. The main objective was to find out whether these patients have access to OT services and the types of interventions being offered to them, together with their satisfaction and real benefits as users. We developed an online questionnaire which was distributed to patients with ATTRv in Spain through patient associations. Seventy-four patients with a diagnosis of ATTRv residing in Spain participated in the study. Thirteen had already used OT services at least once, felt that OT interventions improved their quality of life, would recommend OT services to others, and would return to see an occupational therapist. However, 61 had never used this type of service before. Of these, 35 knew what OT is and 13 declared that they considered that OT interventions in ATTRv could be positive for them. The results suggest that the use of OT services by ATTRv patients is low, mainly because of the lack of information about the occupational profile of individuals with this disease. The low response rate obtained for the survey limits generalization, and thus further research to confirm these preliminary findings is needed. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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Review

Jump to: Research

37 pages, 2083 KiB  
Review
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges
by Takeya Adachi, Ayman W. El-Hattab, Ritu Jain, Katya A. Nogales Crespo, Camila I. Quirland Lazo, Maurizio Scarpa, Marshall Summar and Duangrurdee Wattanasirichaigoon
Int. J. Environ. Res. Public Health 2023, 20(6), 4732; https://doi.org/10.3390/ijerph20064732 - 8 Mar 2023
Cited by 13 | Viewed by 8364
Abstract
This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds [...] Read more.
This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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11 pages, 644 KiB  
Review
Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review
by Marta Martín-Martín, Jonathan Cortés-Martín, Maria Isabel Tovar-Gálvez, Juan Carlos Sánchez-García, Lourdes Díaz-Rodríguez and Raquel Rodríguez-Blanque
Int. J. Environ. Res. Public Health 2022, 19(3), 1870; https://doi.org/10.3390/ijerph19031870 - 7 Feb 2022
Cited by 4 | Viewed by 4692
Abstract
Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two [...] Read more.
Ehlers–Danlos syndrome type arthrochalasia (aEDS) is a rare genetic disease characterized by severe generalized joint hypermobility, bilateral congenital hip dislocation, skin hyperextensibility, muscle hypotonia, and mild dysmorphic features. It is an autosomal dominant connective tissue disease causing defects in collagen, associated with two genes, COL1A1 or COL1A2. Only about 42 cases have been published worldwide. Treatment is currently symptomatic and focuses on increasing the quality of life of these patients, as there is no curative treatment. The main objective of the review was to update information on Ehlers–Danlos syndrome type arthrochalasia from scientific publications. The review report was carried out in accordance with the criteria of the Preferred Reporting Items for Systematic reviews and MetaAnalyses (PRISMA) review protocol, by searching Orphanet, OMIM, PubMed, and Scopus, as well as free sources. A total of 20 articles were analyzed, which, after analysis, provide an updated report that aims to establish a solid starting point for future lines of research. Full article
(This article belongs to the Special Issue Second Edition of the Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare, and Effects)
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