Orphanet Journal of Rare Diseases最新文献

{"title":"A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.","authors":"Joost Groen, Bas M de Haan, Ruben J Overduin, Andrea B Haijer-Schreuder, Terry Gj Derks, M Rebecca Heiner-Fokkema","doi":"10.1186/s13023-025-03537-2","DOIUrl":"10.1186/s13023-025-03537-2","url":null,"abstract":"<p><strong>Background: </strong>Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation. However, a specific and reliable biomarker is lacking. As GSD Ia patients demonstrate altered lipid metabolism and mitochondrial fatty acid oxidation, we built a machine learning model to identify GSD Ia patients based on plasma acylcarnitine profiles.</p><p><strong>Methods: </strong>We collected plasma acylcarnitine profiles from 3958 patients, of whom 31 have GSD Ia. Synthetic samples were generated to address the problem of class imbalance in the dataset. We built several machine learning models based on gradient-boosted trees. Our approach included hyperparameter tuning and feature selection and generalization was checked using both nested cross-validation and a held-out test set.</p><p><strong>Results: </strong>The binary classifier was able to correctly identify 5/6 GSD Ia patients in a held-out test set without generating significant amounts of false positive results. The best model showed excellent performance with a mean received operator curve (ROC) AUC of 0.955 and precision-recall (PR) curve AUC of 0.674 in nested CV.</p><p><strong>Conclusions: </strong>This study demonstrates an innovative approach to applying machine learning to ultra-rare diseases by accurately identifying GSD Ia patients based on plasma free carnitine and acylcarnitine concentrations, leveraging subtle acylcarnitine abnormalities. Acylcarnitine features that were strong predictors for GSD Ia include C16-carnitine, C14OH-carnitine, total carnitine and acetylcarnitine. The model demonstrated high sensitivity and specificity, with selected parameters that were not only robust but also highly interpretable. Our approach offers potential prospect for the inclusion of GSD Ia in newborn screening. Rare diseases are underrepresented in machine learning studies and this work highlights the potential for these techniques, even in ultra-rare diseases such as GSD Ia.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"15"},"PeriodicalIF":3.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11721056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.","authors":"Gry Velvin, Heidi Johansen, Gunnbjørg Aune, Kerstin Fugl-Meyer, Amy Østertun Geirdal","doi":"10.1186/s13023-024-03485-3","DOIUrl":"10.1186/s13023-024-03485-3","url":null,"abstract":"<p><strong>Introduction: </strong>The purpose of this study was to investigate perceptions and opinions on what constitutes determinants for quality of life (QoL) in individuals with syndromic Heritable Aortic Disease (sHTAD), utilizing a qualitative study approach. Further to discuss clinical implications and direction for research.</p><p><strong>Method: </strong>A qualitative focus group interview study was conducted of 47 adults (Marfan syndrome (MFS) = 14, Loeys-Dietz syndrome (LDS) = 11, vascular Ehlers Danlos syndrome (EDS) = 11, relatives = 11). The interviews were digitally recorded and transcribed verbatim. Significant themes were identified, extracted, and organised undergoing content analyses.</p><p><strong>Results: </strong>The two main themes and 10 subthemes identified; I. Psychosocial well-being; (i) Social engagement and activity, (ii) Self-sufficient in daily living, (iii) Participation in education and work life, (iv) Coping with fear related to the disease, (v) Being able to control and accept fatigue and pain, (vi) Maintaining active engagement with family and friends (vii) Finding health-promoting physical activities. II. Monitoring and meetings with the health service: (viii) Feeling safe and receiving coordinated care, (ix) Being recognized, seen, and accepted, (x) Receiving factual and sober information and advice. The sub-themes seemed mutually interrelated in terms of barriers, strategies, and facilitators for improving quality of life. There was high degree of consensus regarding the factors emphasized as important for QoL among the various diagnostic groups and the relatives.</p><p><strong>Conclusion: </strong>Based on our findings, to improve QoL in patients with sHTAD we should more effectively integrate the patient`s perspectives and voice on the elements crucial to QoL. In addition, it is vital for developing and customizing validated questionnaires to accurately reflect the factors deemed significant by this specific patient cohort. The research is limited on patients' perspectives on QoL, and more research is warranted. This might also be crucial for identifying relevant validated QoL instruments that reflect the patients` perceptions of what is vital for QoL.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"12"},"PeriodicalIF":3.4,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11714953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment and evaluation of a method for measuring ornithine transcarbamylase activity in micro blood of neonates.","authors":"Zhilei Zhang, Xin Wang, Jingjing Zhang, Xianwei Guan, Yanyun Wang, Dongyang Hong, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang","doi":"10.1186/s13023-025-03529-2","DOIUrl":"10.1186/s13023-025-03529-2","url":null,"abstract":"<p><strong>Background: </strong>Ornithine transcarbamylase deficiency exhibits a high degree of clinical heterogeneity, making its screening and classification challenging in some instances. In this study, we first established a simple and stable method for testing ornithine transcarbamylase activity using micro blood from newborns, rather than relying on venous blood.</p><p><strong>Methods: </strong>The activity of ornithine transcarbamylase was assessed by measuring the concentration of citrulline produced in the reaction with carbamoyl phosphate and ornithine, using serum, plasma or micro blood. Correlation analysis was evaluated using Sangerbox Tools. The Receiver Operating Characteristic curve was used in SPSS Statistics 17.0 to evaluate the diagnostic efficiency of Ornithine transcarbamylase deficiency.</p><p><strong>Results: </strong>A strong linear relationship was observed between ornithine transcarbamylase activity and both micro blood volume and reaction time (R² = 0.9793, 0.9922 respectively). The intra-coefficient variation and inter-coefficient variation were 11% and 12.5% with a 1-h reaction time, and 6.77% and 9.58% with a 3-h reaction time, respectively. And the inter-coefficient variation was lower than the most widely used colorimetry method (5.1-21.1%). The Limit of Blank was 0.57 nmol/mL/h. The reference interval for normal newborn population is greater than or equal to 39.6 nmol/mL/h. Notably, the method exhibited a 100% sensitivity, surpassing the sensitivity of colorimetry method (94.3%), along with and a specificity of 96.9% for diagnosing ornithine transcarbamylase deficiency.</p><p><strong>Conclusions: </strong>We pioneered a method for testing OTC activity that normally carried on venous blood can be effectively performed on microblood heel samples. Meanwhile, our method presents a simpler, more stable and reproducible approach compared to colorimetry.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"9"},"PeriodicalIF":3.4,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: PHARC syndrome: an overview.","authors":"Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer","doi":"10.1186/s13023-024-03491-5","DOIUrl":"10.1186/s13023-024-03491-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"10"},"PeriodicalIF":3.4,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11708092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.","authors":"Yang Cao, Xiaolong Zhang, Lan Lan, Danyang Li, Jin Li, Linyi Xie, Fen Xiong, Lan Yu, Xiaonan Wu, Hongyang Wang, Qiuju Wang","doi":"10.1186/s13023-025-03540-7","DOIUrl":"10.1186/s13023-025-03540-7","url":null,"abstract":"<p><strong>Background: </strong>Non-isolated auditory neuropathy (AN), or syndromic AN, is marked by AN along with additional systemic manifestations. The diagnostic process is challenging due to its varied symptoms and overlap with other syndromes. This study focuses on two mitochondrial function-related genes which result in non-isolated AN, FDXR and TWNK, providing a summary and enrichment analysis of genes associated with non-isolated AN to elucidate the genotype-phenotype correlation and underlying mechanisms.</p><p><strong>Methods: </strong>Seven independent Chinese Han patients with mutations in FDXR and TWNK underwent comprehensive clinical evaluations, genetic testing, and bioinformatics analyses. Diagnostic assessments included auditory brainstem response and distortion product otoacoustic emissions, supplemented by other examinations. Whole exome sequencing and Sanger sequencing validated genetic findings. Pathogenicity was assessed following American College of Medical Genetics and Genomics guidelines. Genes associated with non-isolated AN were summarized from prior reports, and functional enrichment analysis was conducted using Gene Ontology databases.</p><p><strong>Results: </strong>A total of 11 variants linked to non-isolated AN were identified in this study, eight of which were novel. Patients' age of hearing loss onset ranged from 2 to 25 years, averaging 11 years. Hearing loss varied from mild to profound, with 57.1%(4/7) of patients having risk factors and 71.4%(5/7) exhibiting additional systemic symptoms such as muscle weakness, ataxia, and high arches. Functional enrichment analysis revealed that genes associated with non-isolated AN predominantly involve mitochondrial processes, affecting the central and peripheral nervous, musculoskeletal, and visual systems.</p><p><strong>Conclusion: </strong>This study identifies novel mutations in FDXR and TWNK that contribute to non-isolated AN through mitochondrial dysfunction. The findings highlight the role of mitochondrial processes in non-isolated AN, suggesting potential relevance as biomarkers for neurodegenerative diseases. Further research is required to explore these mechanisms and potential therapies.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"11"},"PeriodicalIF":3.4,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11715445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Iranian guidelines for the diagnosis and management of maple syrup urine disease: an evidence- and consensus- based approach.","authors":"Noushin Rostampour, Setila Dalili, Hossein Moravej, Zhila Afshar, Negar Yazdani, Seyedeh Tahereh Mousavi, Parastoo Rostami, Daniel Zamanfar, Maryam Yahay, Abdolhossein Nikravesh, Zahra Beyzaei, Mohamad Ahangar Davoodi, Atefeh Sedaghat, Tahora Hakemzadeh, Ali Talea","doi":"10.1186/s13023-025-03533-6","DOIUrl":"10.1186/s13023-025-03533-6","url":null,"abstract":"<p><p>Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases from 2001 to 2022 accompanied by a consensus of physicians of different centers in Iran who are experts in the diagnosis and management of this disease. This article considers pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment, and monitoring of MSUD patients with limited recourse.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"8"},"PeriodicalIF":3.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11707931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Progression and mortality of patients with cystic fibrosis in China.","authors":"Wangji Zhou, Yaqi Wang, Yanli Yang, Yanyan Sun, Chongsheng Cheng, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Xueqi Liu, Dingding Zhang, Song Liu, Weiguo Zhu, Yaping Liu, Kai-Feng Xu, Xinlun Tian","doi":"10.1186/s13023-024-03522-1","DOIUrl":"https://doi.org/10.1186/s13023-024-03522-1","url":null,"abstract":"<p><strong>Background: </strong>Patients with cystic fibrosis (CF) are rare in China and differ significantly from the Caucasian populations in terms of clinical and genetic characteristics. However, the progression and mortality of Chinese patients with CF have not been well described.</p><p><strong>Results: </strong>This study included all 67 patients from the Peking Union Medical College Hospital CF cohort, with a median followed up time of 5.2 years. Compared to patients diagnosed with CF in childhood, adult-diagnosed patients exhibit a lower proportion of pancreatic exocrine insufficiency (25.0% vs. 77.8%, P = 0.001) and a higher body mass index (19.6 vs. 17.7 kg/m², P = 0.045). According to the mixed-effects model, for patients ≤ 30 years of age at diagnosis, FEV₁% predicted decreased 1.17% per year. The generalized linear regression model showed that higher baseline FEV₁% predicted and occurrence of pulmonary exacerbations were associated with the progression of patients with CF. The survival rates at 5 years and 10 years after the diagnosis were 96.7% and 80.6%, respectively. The log-rank test showed baseline FEV₁% predicted < 50%, and high CF-ABLE and 3-year prognostic scores were associated with mortality in patients with CF in China.</p><p><strong>Conclusions: </strong>We reported the progression and mortality of patients with CF in China, which was a rare and relatively unknown population in the past. Baseline FEV₁% predicted is associated with progression and mortality. Pulmonary exacerbations can accelerate the decline in lung function. The CF-ABLE and 3-year prognostic scores are applicable for predicting poor prognosis in patients with CF in China.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"6"},"PeriodicalIF":3.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705856/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951485","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical management of female patients with Fabry disease based on expert consensus.","authors":"Eva Brand, Aleš Linhart, Patrick Deegan, Ruxandra Jurcut, Antonio Pisani, Roser Torra, Ulla Feldt-Rasmussen","doi":"10.1186/s13023-024-03500-7","DOIUrl":"10.1186/s13023-024-03500-7","url":null,"abstract":"<p><p>Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype. Most females are hemizygous and the X-linked inheritance is associated with variable X-activation pattern and residual enzymatic activity. The heterogeneity of clinical presentation in females requires different approaches to diagnosis and management than males. A European group of 7 physicians, experienced in the management of Fabry disease, convened to discuss patient perspectives and published guidelines. The experts discussed the need to focus on psychological treatment in relation to individual coping styles when monitoring targets, and the lack of data supporting the use of plasma globotriaosylsphingosine over enzyme activity in the diagnosis of these patients. It was suggested that the high phenotypic variability in female patients may be related to the dynamic nature of the X-chromosome inactivation process and further understanding of this process could help predict the progression of Fabry disease in females and facilitate timely intervention. Due to the range of disease severity they exhibit, female patients with Fabry disease may require a more individualized treatment approach than males. Despite current recommendations, the experts agreed that early disease-specific treatment initiation in high-risk females could improve clinical outcome.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"7"},"PeriodicalIF":3.4,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11707893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alström syndrome: the journey to diagnosis.","authors":"Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot","doi":"10.1186/s13023-024-03509-y","DOIUrl":"https://doi.org/10.1186/s13023-024-03509-y","url":null,"abstract":"<p><strong>Background: </strong>Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected. Symptoms can also present at different stages, making diagnosis difficult. There are currently 88 people diagnosed with AS in the UK.</p><p><strong>Objectives: </strong>The aim of this report is to raise awareness of the key symptoms of AS, in order to promote a faster and more effective diagnosis. This involves identification of individual or a combination of 'red flag' symptoms. Overall the findings should improve the patient experience, and their long-term health outcomes.</p><p><strong>Methods: </strong>Between August-October 2022 we conducted research into a sample of patients from the ASUK database. The process involved a combination of interviews with families, social care and education reviews. Interviews were semi-structured using open questions and a patient-centred approach.</p><p><strong>Results: </strong>Seventeen newly diagnosed patients were included in our sample. Only 24% of patients were diagnosed within one year following the onset of AS symptoms. Patients with visual impairment and cardiomyopathy were diagnosed much more quickly, either in infancy or early childhood. 41% of our research participants waited over 5 years for a diagnosis. Insufficient research and treatment advances can further impede the diagnostic process and limit access to therapies or clinical trials, ultimately impacting patient outcomes.</p><p><strong>Conclusion: </strong>While we welcome these developments, our findings, and the evidence we have gathered in this report suggests that more needs to be done to improve the experiences of people receiving a diagnosis of AS. Obesity rapidly developing in infancy should be flagged as a key symptom to be aware of where AS is a possible diagnosis. Visual impairment (88%) in combination with cardiomyopathy (59%) is a frequent first presentation for patients with AS. Most patients (7/17) are diagnosed many years after symptom onset (5-20 years).</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"5"},"PeriodicalIF":3.4,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The physical, emotional, social, and functional dimensions of epidermolysis bullosa. An interview study on burdens and helpful aspects from a patients' perspective.","authors":"Gudrun Salamon, Sophie Strobl, Marie-Stephanie Matschnig, Anja Diem","doi":"10.1186/s13023-024-03475-5","DOIUrl":"https://doi.org/10.1186/s13023-024-03475-5","url":null,"abstract":"<p><strong>Background: </strong>Epidermolysis bullosa (EB) is a serious, painful, hereditary and still incurable genetic condition. Due to blistering or wounds on the skin caused by the slightest touch, a person suffering from epidermolysis bullosa is prevented from achieving the same quality of life as a healthy person. Until now, psychosocial research has focused on the description of the problems of people living with the disease.</p><p><strong>Objectives: </strong>The aim of this paper is to provide a structured overview of potential psychosocial effects of epidermolysis bullosa on the everyday lives of people with the condition and to explore helpful aspects for coping with EB.</p><p><strong>Methods: </strong>Semi-structured interviews with persons living with EB were conducted. Analyses were based on a combination of a reflexive grounded theory approach and a structured coding guide. By means of purposive sampling across three countries, a high diversity within the sample was achieved in order to obtain a wide range of possible effects.</p><p><strong>Results: </strong>A total of 17 individuals living with EB across all EB types were interviewed, resulting in 36,315 words being analysed. Psychosocial aspects of EB comprise physical, emotional, social, and functional dimensions. Identified burdens and helpful aspects in dealing with EB are described along this structure.</p><p><strong>Conclusions: </strong>Our results highlight the broad range of possible psychosocial effects caused by epidermolysis bullosa. It is particularly important to recognise those affected as individuals with their personal needs and to avoid unnecessary strains. Furthermore, emotional support is crucial in every respect.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"3"},"PeriodicalIF":3.4,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11705948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142951877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}