OBJECTIVE : To 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. METHODS : A 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. RESULTS : The 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.
CONCLUSION : This 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.