Orphanet Journal of Rare Diseases最新文献

Introduction: Gaucher disease (GD) is a lysosomal storage disorder characterized by glucosylceramide accumulation, which may lead to liver fibrosis and cirrhosis. Enzyme replacement therapy (ERT) could reverse fibrosis. This study aimed to assess liver and spleen stiffness and hepatic steatosis in adult type 1 GD patients receiving ERT, using transient elastography (TE) (Fibroscan®).

Method: Twenty-five type 1 GD patients were evaluated pre- and post-ERT. TE findings of GD patients on ERT were compared cross-sectionally with a control group. Liver fibrosis was defined as ≥7 kPa, and significant steatosis was defined as a Controlled Attenuation Parameter (CAP) measurement ≥ 250 dB/min. Associations between TE findings and clinical, metabolic, genetic characteristics, FIB4 (fibrosis 4) and APRI (AST to platelet ratio index) scores, were investigated.

Results: Fifty-six percent of GD patients were female, with a median disease duration of 13 years. Post-ERT, body weight (57.3 vs. 63.6 kg, p < 0.001), body mass index (22 vs. 23.8 kg/m², p < 0.001), and metabolic syndrome (MetS) prevalence (12% vs. 40%, p = 0.016) were increased. Hepatic steatosis was more frequent (32% vs. 16%). Liver fibrosis was present in 44% of GD patients, but in none of the controls. GD patients exhibited significantly higher liver (6.6 vs. 3.7 kPa; p < 0.001) and spleen stiffness (17.6 vs. 11.1; p = 0.032). Liver fibrosis was positively correlated with ALT, GGT, ferritin levels, disease duration, and delayed initiation of ERT.

Conclusion: Although ERT improved fibrosis-related parameters, GD patients demonstrated higher liver and spleen stiffness. Elevated ferritin levels, longer disease duration, and delayed initiation of ERT were associated with liver fibrosis. Additionally, increased metabolic syndrome prevalence post-ERT may contribute to the development of hepatic steatosis in this patient population.

Introduction: Rare genetic diseases are, collectively, not in fact rare. However, educational opportunities focused on rare genetic disease can be limited. The Internet has increased the availability of education related to rare genetic disease and is accessible to a diverse range of people who seek out such information, including healthcare professionals, researchers, students, patients, and the public.

Purpose: To assess the potential educational outreach of the Internet, this systematic literature review will appraise the landscape of what education for rare genetic disease is available online, describing its form, subject, and intended audience.

Methods: This systematic review encompassed all results across 20 science, healthcare, and education databases published up to September 1, 2023. The search criteria were specific to online education for rare genetic diseases.

Results: From 1663 total results, after applying exclusion criteria, 58 publications remained, ranging from 2002 to 2023. Although the amount of research presenting rare genetic disease education online was limited, the forms of education and its target learners were varied. Studies could have multiple target learners and healthcare professionals (68.97% of papers) and healthcare consumers (62.07% of papers) represented the most common of 5 different learners. 22 different specific conditions or categories of disease were the focus of 56.90% papers, with the remainder being general subjects like 'genetic testing' or 'rare diseases' overall. Modes of delivery were mutually exclusive per paper, with websites (29.31% of papers) and web applications/modules (24.14% of papers) being the most common of 7 different forms. The highest representation for author institutions was the USA (58.62% of papers) out of 33 countries total. The broad spread of learners, subjects, and delivery forms demonstrates the potential for online education as a vehicle for advancing the reach of rare disease education.

Conclusions: The greater accessibility afforded through online information creates an avenue for further availability of high-quality education on rare genetic diseases.