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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to 1:170,000. This expert review evaluates the available guidelines, the status of diagnosed but untreated patients with FD, and the challenges in diagnosing and managing FD in the Kingdom of Saudi Arabia (KSA). An advisory board meeting (ABM) was conducted in two phases, with a survey that aimed to receive insights on the current unmet needs in the management of patients with FD in November 2022, and a second, offline meeting in February 2023. The goal of this ABM was to discuss current unmet needs in the management of Fabry patients in the Kingdom of Saudi Arabia. In the first ABM, experts opined on the best practices in the diagnosis, screening, and management of FD for healthcare professionals. These opinions on the management of FD relied on data from research and expert clinical judgments. In the second ABM, the same panel discussed different aspects of FD diagnosis, treatment, and management in the member countries of the Gulf Cooperation Council. The experts discussed the stigma associated with FD, patient awareness and knowledge, genetic screening, biomarkers, and home infusion therapy. They reviewed international guidelines and clinical criteria for enzyme replacement therapy (ERT). Furthermore, they also discussed the diagnosis of FD in men and women, the current guidelines followed for monitoring patients with FD, monitoring untreated patients with FD, Fabry Stabilization IndeX (FASTEX) as an assessment tool for the diagnosis of FD, FD management in KSA, challenges encountered while prescribing ERT in patients with FD, and the clinical criteria for starting ERT. The discussions led to the conclusion that currently, ERT is the only available therapy to manage FD and research should be focused on the early diagnosis and management of FD., Competing Interests: Dr Konstantinos Fourtounas reports honoraria from Sanofi, during the conduct of the study. The authors declare that they have no competing interests., (© 2024 Alfadhel et al.)

Background: There is still room for improvement of pain management after spinal surgery. The goal of this study was to evaluate adding the erector spinae block to the standard analgesia regimen. Our hypothesis was that the erector spinae plane block will decrease length of hospital stay, reduce opioid need and improve numeric rating scale pain scores., Methods: This was a single center retrospective cohort study. We included 418 patients undergoing laminectomy or discectomy from January 2019 until December 2021. The erector spinae plane block was introduced in 2016 by Forero and colleagues and added to our clinical practice in October 2020. Patients who did not receive an erector spinae plane block prior to its implementation in October 2020 were used as control group. The primary outcome measure was functional recovery, measured by length of hospital stay. Secondary outcome measures were perioperative opioid consumption, need for patient-controlled analgesia and numeric rating scale pain scores. Postoperative data collection time points were: at the PACU and after 3, 6, 12 and 24 h postoperatively., Results: There was a significant shorter length of hospital stay in patients undergoing single level laminectomy (with erector spinae plane block 29 h (IQR 27-51), without block 53 h (IQR 51-55), p < .001), multiple level laminectomy (with erector spinae plane block 49 h (IQR 31-54), without block 54 h (IQR 52-75), p < .001) and discectomy (with erector spinae plane block 27 h (IQR 25-30), without block 29 h (IQR 28-49), p = .04)., Conclusions: Erector spinae plane block reduces length of stay after laminectomy surgery., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease-specific therapies when available. Fabry disease, an X-linked lysosomal storage disorder caused by pathogenic variants in GLA, can lead to end-stage renal disease, cardiac arrhythmias, and stroke. Diagnostic delays are common due to the rarity of the disease and non-specificity of early symptoms. Newborn screening and screening of at-risk populations, (e.g., patients with hypertrophic cardiomyopathy or undiagnosed nephropathies) can identify individuals with Fabry disease. Subsequent cascade genotyping of family members may disclose a greater number of affected individuals, often at younger age than they would have been diagnosed otherwise., Methods: We conducted a literature search to identify all published data on family genetic testing for Fabry disease, and discussed these data, experts' own experiences with family genetic testing, and the barriers to this type of screening that are present in their respective countries., Results: There are potential barriers that make implementation of family genetic testing challenging in some countries. These include associated costs and low awareness of its importance, and cultural and societal issues. Regionally, there are barriers associated with population educational levels, national geography and infrastructures, and a lack of medical geneticists., Conclusion: In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)