Improving the Timeliness of Discharge Summary Communication: A Quality Improvement Project.

Introduction A recognised problem in the Royal Devon & Exeter Hospital and across the NHS is that discharge summaries are often sent to general practitioners (GP) long after the patient is discharged, or not at all. This is a safety issue when for example the summary includes time-sensitive requests for the GP or information relevant to ongoing care. Methods A quality improvement project was devised to tackle this important problem. First, the Royal Devon & Exeter Hospital's electronic patient record system was used to construct a report allowing measurement of the scale of this problem and stratification by factors such as discharging department or ward. This report identified that 22.6% (12,965/57,367) of discharge summaries are sent outside the Trust's target (two working days from discharge). A three-pronged approach was devised targeting discharges of deceased patients using educational material, discharges from a medical ward using an automated list, and finally optimising the technical steps required to send a discharge summary to attempt to reduce the delay. Results Plan, do, study and act (PDSA) cycles were implemented, one targeting discharges for deceased patients and another targeting discharges from a medical ward. Though not sustained, the former resulted in a six-week increase in the percentage of discharge summaries sent within the target from 50% to 80%. The latter did not lead to improvement due to a number of factors including workload in the midst of a global pandemic and other factors explored in a root cause analysis. The most ambitious intervention aimed to automate an administrative step, which proved challenging due to software and human factors. As such this intervention was not completed during the study period. Conclusion The sending of discharge summaries is often delayed and this has potential consequences for patient care. This study has used the hospital's electronic patient record system to create a report which provides detailed information on areas with the most potential for improvement. Though the targeted interventions were respectively nonsustained, unsuccessful and not implemented, this data can suggest reasons behind poor performance and therefore targets for future interventions, illustrating great sustainability.

The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.

BACKGROUND & AIMS: Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which mimics non-alcoholic fatty liver disease (NAFLD). It has been suggested that CESD may affect 1 in 40,000 and is under-diagnosed in NAFLD clinics. Therefore, we aimed to estimate the prevalence of LAL-D using analysis of genetic variation in LIPA. METHODS: MEDLINE and EMBASE were systematically searched for previously reported disease variants and prevalence estimates. Previous prevalence estimates were meta-analysed. Disease variants in LIPA were annotated with allele frequencies from gnomAD and combined with unreported major functional variants found in humans. Pooled ethnicity-specific prevalences for LAL-D and CESD were calculated using the Hardy-Weinberg equation. RESULTS: Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA. A total of 98 previously reported disease variants in LIPA were identified, of which 32/98 were present in gnomAD, giving a prevalence of 1 per 307,482 (95% CI 257,672-366,865). Wolman disease was associated with more loss-of-function variants than CESD. When this was combined with 22 previously unreported major functional variants in LIPA identified in humans, the pooled prevalence of LAL-D was 1 per 177,452 (95% CI 149,467-210,683) with a carrier frequency of 1 per 421. The prevalence is lowest in those of East Asian, South Asian, and Finnish ancestry. CONCLUSION: Using 120 disease variants in LIPA, these data can reassure clinicians that LAL-D is an ultra-rare disorder. Given the therapeutic capability of sebelipase alpha, investigation for LAL-D might be included in second-line metabolic screening in NAFLD. LAY SUMMARY: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare genetic condition that can cause severe liver disease, but it is difficult to diagnose and sometimes can look like simple fatty liver. It was not clear how common LAL-D was and whether many cases were being missed. To study this, we searched for all genetic mutations that could cause LAL-D, calculated how common those mutations were, and added them up. This let us estimate that LAL-D affects roughly 1 in 175,000 people. We conclude that LAL-D is a very rare condition, but it is treatable so may be included in a 'second-line' of tests for causes of fatty liver.

The global prevalence of Wilson disease from next-generation sequencing data.

PURPOSE: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism, caused by pathogenic variants in ATP7B. We aimed to (1) perform a meta-analysis of previous WD prevalence estimates, (2) estimate the prevalence of WD from population sequencing data, and (3) generate an ATP7B gene variant database. METHODS: MEDLINE and EMBASE were systematically searched. Previous prevalence estimates were subjected to meta-analysis. All previously reported pathogenic ATP7B variants were compiled and annotated with gnomAD allele frequencies. Pooled global and ethnicity-specific genetic prevalences for WD were generated using the Hardy-Weinberg equation. RESULTS: Meta-analysis of genetic studies of WD prevalence gave an estimate 12.7 per 100,000 (95% confidence interval [CI]: 6.3-23.0). We developed a referenced, searchable ATP7B database comprising 11,520 variants including 782 previously reported disease variants, which can be found at http://www.wilsondisease.tk/ ; 216/782 of these were present in gnomAD, remained after filtering by allele frequency, and met American College of Medical Genetics and Genomics criteria. Based on these, the genetic prevalence of WD was 13.9 per 100,000 (95% CI: 12.9-14.9), or 1 per 7194. Combining this with 60 predicted pathogenic variants gave a birth prevalence of 15.4 per 100,000 (95% CI: 14.4-16.5). CONCLUSION: The genetic prevalence of Wilson disease may be greater than previous estimates.