Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a single center level to establish clinical significance. To address this issue we have used the I-CAH registry to investigate the frequency of sick day episodes and adrenal crisis.
Methodology: The I-CAH registry is a part of the I-DSD registry, which has national ethics approval as a pseudoanonymized registry in the UK for which patients provide consent for curation of routine clinical data. We have built a prospective longitudinal module in the registry and collected data on number and duration of sick day episodes, history of adrenal crisis and change in medications since last visit.
Results: Amongst the 2012 cases, in the I-DSD/CAH Registry, there were 504 records of CAH (n=490 21-OHD and n=14 11-β hydroxylase deficiency) and data were accessible in 389 (n=377 21-OHD, n=12 11-β hydroxylase deficiency). Data were entered from 13 countries. There were 163 adult patients (>18 years) and 226 children (<18 years). There were 52 patients with longitudinal data and the recorded number of sick day episodes was 36. Duration of Sick day episodes ranged between 110 days and mean duration of an episode was 2.5 days. There were no reported adrenal crises. Dose of medication was changed based on the sick day episodes.
Conclusion: The I-CAH registry provides a tool to look at adverse events in patients with CAH. Preliminary data suggest that patients experience frequent episodes where they evoke the sick day rules.