scholarly journals Understanding the ecosystem of patients with lysosomal storage diseases in Spain: a qualitative research with patients and health care professionals

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Juan de Dios García-Díaz ◽  
Mónica López-Rodríguez ◽  
Montserrat Morales-Conejo ◽  
Antoni Riera-Mestre ◽  
Keyword(s):  
Quality Of Life ◽  
Health Care Professionals ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Patient Journey ◽  
Storage Diseases ◽  
Daily Routines ◽  
Negative Perceptions

Abstract Background Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routines. In this study we aimed to explore the impact of the disease on the lives of patients with four LSDs, as well as how they experience Patient Journey from diagnosis to follow up. Unmet Needs (UNs) perceived by patients and clinicians were assessed to have a better understanding of which initiatives could improve LSDs management and especially those that could result in an improvement of patients’ quality of life. Methods Qualitative research was the research methodology selected for the study. It provides plentiful and holistic insights into people’s views and actions. The study was conducted through in-depth face-to-face semi-structured interviews. Results In total, 20 patients and 25 Health Care Professionals (HCPs) from different Spanish regions were interviewed. Patients perceived that the highest impact of the LSDs was on their daily routines, specifically on their emotional side, their work/school environment, their family and their social life. Regarding the Patient Journey experience, the worst perceived stage was the pre-diagnosis, where patients only reported negative perceptions, being the delay in diagnosis and misdiagnosis the most commented issues. On the contrary, the follow-up stage was the one with less negative perceptions. Overall, patients and HCPs agreed on the priority UNs, such as accelerating diagnosis, reducing bureaucracy for the treatment access and a more coordinated attention for the patients, not only among different physicians but also with other professionals such as genetic counselors or social workers. Conclusions Our data shows that there are still UNs to be addressed from the perspective of patients and HCPs. The main UN is accelerating diagnosis, which could be achieved by medical awareness and education, according to clinicians. A more comprehensive disease management was another main point to be worked on to improve LSD-patient experience and quality of life.

Home-based service for enzyme replacement therapy in lysosomal storage disorders: patient reported outcomes

2018 ◽  
Vol 6 (4) ◽  
pp. 669
Author(s):  
Paolo Tirelli ◽  
Fiorina Giona ◽  
Maja Di Rocco ◽  
Elena Cassinerio ◽  
Antonio Pisani ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Nursing Service ◽  
Enzyme Replacement ◽  
Home Based ◽  
Patient Reported

Background:  Lysosomal storage diseases (LSDs) are a heterogeneous group of rare chronic genetic conditions. The standard-of-care treatment for LSDs is hospital-based infusion of enzyme replacement therapy (ERT), however, over time this can be stressful and inconvenient. The Italian TuTor program, established in 2011 by Sanofi Genzyme, is a professional nursing service providing home-based ERT to patients with LSDs.Objectives:  The current questionnaire-based study was conducted to investigate the level of patient satisfaction with theTuTor program and to shed light on disease perception.Methods:  Patients were enrolled in the TuTor program from 2011 onwards. The first 100 patients enrolled were interviewed at baseline with follow-up interviews conducted at 6, 12 and 18 months.Results: Overall, 52 patients were female; 46 had Gaucher’s disease, 46 had Fabry disease and 8 had mucopolysaccharidosis type 1. Patients took on average >2 hours to receive hospital-based ERT, plus time associated with the infusion; 2 out of 3 patients needed a caregiver to travel to the hospital. After receiving home-based ERT for 6 months, 37% of patients considered their quality of life ‘greatly improved’ (60% at 18 months). Overall, 99% to 100% of patients rated the home-based nursing service as ‘positive’ or ‘very positive’ and reported that they would recommend the service to other patients with their condition.Conclusions: For patients with LSDs eligible for ERT, a disease-specific home-based nursing service increased their perception of quality of life over a hospital-based service and was advantageous in terms of their time and expenditure.

scholarly journals The usage of enzyme replacement treatments, economic burden, and quality of life of patients with four lysosomal storage diseases in Shanghai, China

2021 ◽  
Author(s):  
Jiahao Hu ◽  
Lin Zhu ◽  
Jiangjiang He ◽  
Dingguo Li ◽  
Huiwen Zhang ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Economic Burden ◽  
Gaucher Disease ◽  
Lysosomal Storage Diseases ◽  
The Other ◽  
Lysosomal Storage ◽  
Total Health Expenditure ◽  
Enzyme Replacement ◽  
Reimbursement Level

Abstract Background Lysosomal storage diseases (LSDs) are a group of rare diseases that caused progressive physical dysfunction and organ failure, which significantly affected patients’ quality of life. Enzyme replacement treatments (ERTs) are now acknowledged as the advanced therapies for LSDs while cost millions per patient per year. Previous studies seldom reported the usage of ERTs and disease burden of patients with LSDs in China. The objective of this study was to explore the characteristics and usage of ERTs of patients with the four different LSDs (Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis) in Shanghai and then evaluate the economic burden and quality of life of these patients. Methods The study used data extracted from a large survey of living conditions of patients with rare diseases in Shanghai, which was conducted from April to August 2020. A total of 31patients, involving 5, 14, 4 and 8 patients with Gaucher, Fabry, Pompe disease and Mucopolysaccharidosis, respectively, was included in analysis. Descriptive statistics was used to describe the socio-demographic information (age, gender, education and etc.), economic burden caused by LSDs (direct medical and non-medical costs, and indirect cost in 2019), the treatment (usage of drugs) and the patients’ quality of life. Results Five Gaucher disease patients in Shanghai used Imiglucerase in 2019, while the other 26 patients with the other three LSDs didn’t receive ERTs. The total health expenditure of Gaucher disease patients was 2,273,000CNY on average mainly resulted by the high cost of Imiglucerase. The total health expenditure of the other 26 patients was 37,765CNY on average. The average total disease burdens of Gaucher disease patients and the patients with the other three LSDs were 164,301CNY and 58,352CNY, respectively. The mean EQ-VAS score of GD patients was 76.4 ± 15.5, which was higher than that of the other three LSDs. All the patients with LSDs in this study reported poor quality of life, which was significantly worse than the Chinese general population. Conclusion Few patients with LSDs in Shanghai could have access to available ERTs without a high reimbursement level. Though the cost-sharing mechanism of basic medical insurance, charity fund and patients had been explored for Gaucher disease in Shanghai, the Out-of-pocket part still laid a heavy economic burden on the patients and their families. The scope of drug reimbursement list and the reimbursement level should be further expanded and raised to help improve the quality of life of patients with LSDs.

scholarly journals Update sul management e trattamento del paziente con lesioni cutanee croniche

2021 ◽  
Vol 5 (3) ◽  
Author(s):  
Aurora Parodi ◽  
Valeria Maria Messina ◽  
Manuela Martolini ◽  
Shpresa Haxhiaj ◽  
Emanuele Claudio Cozzani
Keyword(s):  
Quality Of Life ◽  
Gold Standard ◽  
Wound Care ◽  
Management Control ◽  
Patient Journey ◽  
Infection And Inflammation

Le lesioni da decubito, le ulcere vascolari e il piede diabetico rappresentano le lesioni cutanee croniche maggiormente diffuse in età geriatrica. La lesione cutanea cronica presenta un elevato rischio infettivo ed un management complesso che richiede terapie mirate ed un iter di trattamento specifico. Il metodo TIME (Tissue management control of Infection and inflammation Moisture imbalance advancement of the Epithelial edge of the wound), costituisce il gold standard per il trattamento delle lesioni cutanee croniche poiché consente di controllare l’infezione e il grado di macerazione della ferita anche nei margini epiteliali. La soluzione di ipoclorito di sodio alla concentrazione dello 0,05%, oggetto di numerosi studi in letteratura, grazie ad un ampio spettro germicida ed alla sua elevata compatibilità tissutale rappresenta il metodo di disinfezione d’elezione per il trattamento delle lesioni cutanee croniche. La qualità di vita (Quality of Life, QoL) di un paziente affetto da lesione cutanea cronica può essere fortemente compromessa. La formazione di un team sanitario multidisciplinare per la gestione del patient journey può favorire il percorso di guarigione, facilitare la gestione della lesione nella quotidianità e migliorare la QoL del paziente. La telemedicina spicca tra le modalità innovative di gestione del wound care sperimentate da un’equipe di specialisti del territorio ligure negli ultimi mesi a seguito della pandemia COVID-19. La pratica della telemedicina si è rivelata particolarmente utile nel follow up della lesione cronica a fronte di un adeguato impiego di strumenti tecnologici che permettano un’elevata qualità di immagini.

Inherited metabolic diseases

2013 ◽  
pp. 1451-1456
Author(s):  
Bernhard Manger
Keyword(s):  
Metabolic Diseases ◽  
Signs And Symptoms ◽  
Lysosomal Storage Diseases ◽  
Organ Damage ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Enzyme Replacement ◽  
Hereditary Disorders ◽  
Enzymatic Pathways

A variety of hereditary disorders can present with structural or functional alterations of the musculoskeletal system. In particular, genetic defects within enzymatic pathways involved in the lysosomal degradation of various substrates can manifest with bone or joint symptoms. Because musculoskeletal complaints are frequently the first reason for the patient to seek medical advice, the rheumatologist may play a crucial role in the early diagnosis of these diseases. Lysosomal storage diseases are a heterogeneous group of individually very rare disorders, but taken together they have a prevalence of more than 1 in 8000 live births. Some of these lysosomal storage diseases can nowadays be treated very effectively by enzyme replacement therapies; however, a timely start of treatment is essential to avoid irreversible organ damage and deterioration of the quality of life. Therefore, the rheumatologist should be able to recognize signs and symptoms of the most frequent treatable lysosomal storage diseases.

Electron Microscopy in the diagnosis of lysosomal storage diseases

1989 ◽  
Vol 47 ◽  
pp. 866-867
Author(s):  
Carole Vogler ◽  
Harvey S. Rosenberg
Keyword(s):  
Electron Microscopy ◽  
Lysosomal Enzyme ◽  
Rectal Mucosa ◽  
Lysosomal Storage Diseases ◽  
Cell Types ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Ultrastructural Examination ◽  
Blood Leukocytes ◽  
Storage Diseases

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

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