Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom

Abstract

ObjectiveTo estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK.MethodsA retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients’ pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated.ResultsThe study population comprised 19 patients of whom 58% were male. Mean age at the time of initial presentation was 15.5 years and the mean age at diagnosis was 18.0 years. 63%, 53% and 42% of patients had hepatomegaly, abnormal lipid storage and splenomegaly at a mean age of presentation of 17.8, 17.1 and 20.9 years, respectively. Over a period of 50 years there were a mean of 48.5 clinician visits and 3.4 hospital admissions per patient. The mean NHS cost of patient management at a LAL Deficiency tertiary referral treatment centre, spanning a period of over 50 years was £61,454 per patient.ConclusionThis study provides important insights into a number of aspects of the disease that are difficult to ascertain from published case reports. Additionally, it provides the best estimate available of NHS resource use and costs with which to inform policy and budgetary decisions pertaining to managing this ultra-orphan disease.

Cost-of-illness studies in rare diseases: a scoping review

“…The high number of studies in some European countries is due to the BURQOL-RD Study [ 80 ], which tackled the estimated burden of 10 RDs (cystic fibrosis, Duchenne muscular dystrophy, epidermolysis bullosa, fragile X syndrome, haemophilia, histiocytosis, JIA, mucopolysaccharidosis, Prader-Willi syndrome, and scleroderma) in Europe in 8 countries (Bulgaria, France, Germany, Hungary, Italy, Spain, Sweden, UK). Sample sizes ranged from as few as nine patients with multifocal motor neuropathy [ 42 ], 18 patients with Niemann-Pick disease type C [ 25 ] or 19 patients with lysosomal acid lipase deficiency [ 20 ], to larger samples, as 7855 patients with idiopathic pulmonary fibrosis [ 72 ], 7119 patients with sarcoidosis [ 52 ], or 6406 patients with pemphigus [ 23 ]. The studies with largest samples were conducted in the USA.…”

“…Most studies (N = 59; 94%) adopted a prevalence-based estimation, where the predominant design was a retrospective cross-sectional design (40 studies). Nine studies followed a cohort design where 4 reported costs for several periods [ 20 , 32 , 36 , 57 ] and 5 collected data along a period of time but only reporting the average cost per year [ 24 , 46 , 66 , 68 , 69 ]. In another 7 cohort studies patients with the disease where compared with a control cohort of subjects without the disease [ 13 , 23 , 29 , 52 , 56 , 61 , 72 ].…”

Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders

“…A couple of 2018 papers that had dealt with reviews of the issue [52,53] did not deal with analytical procedures; nor did those that had dealt with decisions to implement such detection methods [54,55] or those that had dealt with the follow up and management of detected cases [56,57]. Those that had studied biomarkers [57,58] and the consensus guidelines for neonatal screening, diagnosis, and treatment [59,60] as well as those that had studied costs [61] did not consider the possibility of using what has been exposed, which should improve what has been done so far, on a few diseases.…”