Endocrine Abstracts

Objectives: Congenital adrenal hyperplasia (CAH) is a rare condition caused by enzyme deficiency in cortisol biosynthesis. The aim of this study was to evaluate the burden of illness associated with child/adolescent and adult CAH.

Methods: A structured, comprehensive literature review was conducted to identify articles describing the burden and treatment landscape of CAH. Literature databases (MEDLINE, Embase, the Cochrane Library and EconLit), websites and conference proceedings were searched. Searches were performed in 2016 and updated in June 2020; eligible articles presented evidence for child/adolescent (aged ≤18 years where reported) or adult CAH, for ≧1 topic of interest (natural history; risk factors; epidemiology; clinical characteristics; humanistic, caregiver and economic burden; treatment options; or clinical guidelines). The evidence presented here focusses on the humanistic, caregiver and economic burden of child/adolescent and adult CAH.

Results: A total of 3,711 citations were identified and 338 were included. A total of 89 (adults) and 86 (adolescents) references were identified that reported humanistic, caregiver or economic burden data respectively. Compared to the general population, patients with CAH (irrespective of age) were found to be significantly shorter and experienced poor bone health, increased occurrences of cardiometabolic events (including obesity, hypertension and insulin resistance), were at risk of developing adrenal crises (which contributed to excess mortality), and in adolescent/adult CAH, had impaired male and female fertility (with adolescents commonly experiencing precocious puberty). Both adolescent and adult patients with CAH were also at risk of developing psychosocial health issues compared to the general population, with adult patients experiencing emotional trauma related to their condition and subsequently finding it difficult to speak about their illness. The reported generic HRQL (no CAH specific instruments were identified) in CAH was varied, with increased impairment observed in more severe forms of CAH and in general, HRQL frequently more impaired in women compared with men. Although the literature was sparse, it did indicate that CAH is associated with a substantial caregiver burden; parents of children/adolescents with CAH reported high levels of anxiety, depression and worry for their loved one. Furthermore, CAH was also associated with a notable economic burden, with significantly higher annual healthcare costs compared to matched controls (P=0.007 for patients aged 18–40 years; P<0.001 for patients aged ≧40 years).

Conclusions: Our review highlights that CAH is a complex and debilitating disease which is associated with significant humanistic, caregiver and economic burden in both child/adolescent and adult CAH patients.