Central diabetes insipidus from a patients′ perspective - from management to psychological co-morbidities and re-naming of the condition

Background: Central diabetes insipidus (cDI), a rare neuroendocrine condition affecting 1 in 25.000, is characterized by deficiency of arginine vasopressin. Data about treatment-related side effects, psychological co-morbidities, and incidence of wrong management due to confusion with diabetes mellitus are scarce and limited to small studies or case series. Furthermore, increasing interest has arisen on a potential need for re-naming the condition.

Methods: A web-based anonymous survey was developed by an international team of endocrinologists and patient representatives covering issues from management of the condition and quality-of-life to lack of awareness amongst medical professionals. Patients were provided with the link to the online survey either via their physician during routine check-ups or the homepages of the UK Pituitary Foundation, Pituitary World News, Facebook group Got Diabetes Insipidus?, and Pituitary Society.

Results: Worldwide, 1034 patients with cDI, 47%(n=488) with isolated posterior and 53%(n=546) with combined anterior/posterior pituitary dysfunction, participated. Median[IQR] age was 42[32, 53], 77%(n=794) were female. Duration of cDI was 9.0[3.0, 19.0] years and its aetiologies were idiopathic 30%(n=315), pituitary tumors/cysts (pre-surgical 21%(n=217), post-surgical 25%(n=254)), inflammatory/autoimmune 6%(n=61), infiltrative diseases 6%(n=59), genetic/familial 4%(n=44), head trauma 3%(n=34), and other causes 5%(n=50). Ninety-six percent (n=994) were on desmopressin therapy - oral tablets 56%(n=575), nasal spray 23%(n=233), and sub-lingual tablets 12%(n=126). Among these patients, 26%(n=273) experienced hyponatremia (self-reported) at least once whilst on desmopressin. Patients who routinely omitted desmopressin (up to several times a week) to allow aquaresis had significantly lower risk of hyponatremia compared to those who did not follow this approach (OR 0.4, 95%CI 0.3-0.7, P<0.01). Sixty-four percent(n=660) reported low quality of life indicated with 6[IQR 4-7] out of 10 points. Thirty-six percent(n=369, equally prevalent in isolated posterior and combined pituitary dysfunction) experienced psychological problems after the diagnosis, of whom 70%(n=258) reported higher anxiety levels, 71%(n=263) sleep disturbances, and 65%(n=239) depressed mood. Eighty percent(n=823) encountered a situation where medical professionals, friends or family members confused the diagnosis with “diabetes mellitus”, of these 88%(n=637) indicated that this confusion affected the management of their cDI. In total, 85%(n=884) would prefer a re-naming of the condition; amongst those, the most common suggestion was “vasopressin deficiency”.

Conclusion: This is the so far largest survey conducted in patients with cDI using a web-based method and patient involvement in the survey development. We show a high percentage of treatment-related hyponatremia, a high prevalence of psychological co-morbidities and a clear need for re-naming of the condition from patients′ perspective.