Estimation of undiagnosed lysosomal acid lipase deficiency in a paediatric population: a UK database study

Date of Approval
Application Number
Technical Summary

We aim to estimate the prevalence of undiagnosed Lysosomal acid lipase deficiency in a UK population based on the Clinical Practice Research Datalink and to tabulate the most commonly associated diagnoses and therapies. To achieve this we will use primary-care data from CPRD GOLD and secondary-care data from the linked Hospital Episode Statistics (HES). Patients (aged 2-18) will be identified based on either low density lipids > =130 mg/dL or High Density Lipids <40 mg/dL for males or <50mg/dL for females) and a test result for alanine transaminase > 1.5 x upper normal range occurring within +/-3 months of each other. Period prevalence will be calculated for 2014, using live patients registered within an up-to-standard (UTS) practice on the mid-year point (30th June 2014) as the denominator. Diagnoses and symptoms will be aggregated by Read code for CPRD GOLD data and ICD-10 codes for the HES dataset and presented in tabular format. Therapy codes will be aggregated by individual drug type and British National Formulary chapter and presented in tabular format. A sensitivity analysis based on patients eligible for the linkage scheme will also be performed. Findings will be summarised with wide granularity and all cells with n<5 suppressed in accordance with CPRD guidelines to prevent the risk of deductive/unintentional disclosure.

Health Outcomes to be Measured

The specific aim of the study is to identify a paediatric (2-18 years) population with both elevated low density lipids (LDL) and elevated alanine aminotransferase (ALT) in order to estimate a potentially undiagnosed population with LAL deficiency. We then wish to consider:. the prevalence of patients with these characteristics recorded diagnoses for this population therapies prescribed to this population


Christopher Morgan - Chief Investigator - Pharmatelligence Limited t/a Human Data Sciences
Alexander Cole - Collaborator - Alexion Pharmaceuticals
Sara Jenkins-Jones - Collaborator - Pharmatelligence Limited t/a Human Data Sciences
Shona Fang - Collaborator - Alexion Pharmaceuticals


HES Admitted Patient Care