A model for measuring the health burden of classic congenital adrenal hyperplasia in adults

Abstract

Aim: Patients with classic Congenital Adrenal Hyperplasia (CAH) have poor health outcomes. In the absence of a comprehensive observational study, this manuscript provides a model to estimate the lifetime disease burden of adults with classic CAH. Methods: The model, built in Excel, comprises sub-domains addressing the health consequences of CAH, and synthesises evidence from clinical and epidemiological studies on health outcomes. Results: The model estimates that adults with classic CAH will implement “sick day rules” (doubling or tripling glucocorticoid and/or use of parenteral therapy) 171 times over their lifetime, and attend hospital for adrenal crisis on 11 occasions. In a population of 1,000, over 200 will die of a condition complicated by adrenal crisis resulting, on average, in a loss of 7 years of life. CAH patients may also suffer from excess CVD events. Treatment with glucocorticoids almost doubles the risk of bone fractures in CAH patients compared to the general population, leading on average to an additional 0.8 fractures per CAH patient over their lifetime. Conclusions: The disease burden model highlights gaps in evidence, particularly regarding intensity of care and adrenal crisis, and the relationship between control of CAH and risks of CVD, osteoporosis, diabetes and infertility. The model can be used for research on the impact of new clinical pathways and therapeutic interventions in terms of clinical events and cost.