Diagnosis, treatment and management of central diabetes insipidus

Researchers examined care pathways for patients with CDI, identifying the factors that influence the diagnosis, treatment and management of patients with CDI, as well as areas to consider that may improve the quality of care that patients receive, and patient outcomes.

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What is the issue?

Central diabetes insipidus (CDI) is a rare condition, affecting 1 in 25,000 people, which impacts patients’ quality of life and usually requires long-term care. It occurs if the body is unable to produce appropriate amounts of arginine vasopressin (AVP, also known as antidiuretic hormone), which can result in extreme thirst and excessive urination. Other symptoms include fatigue, dizziness, low blood pressure and increased heart rate related to dehydration, and excessive sodium in the blood — a direct consequence of CDI.

CDI can occur for several reasons, including traumatic injury to the brain, such as from a brain tumour or surgery, or as a genetic condition.

The evidence on how to care for both adult and paediatric patients with this condition is highly fragmented and there is a need for better understanding of challenges to patient care and how they can be addressed.

How did we help?

RAND Europe was commissioned by Ferring Pharmaceuticals to conduct an independent project looking at care pathways for patients with CDI, the challenges to patient care and improvement opportunities.

Our research focused on identifying the factors that influence the diagnosis, treatment and management of patients with CDI, including how COVID-19 might have impacted delivery of care, and areas to consider in efforts to improve the quality of care that patients receive, and patient outcomes.

RAND Europe conducted a narrative literature review, interviews and workshops with clinical experts and interviews with patient representatives to inform the research findings.

What did we find?

Our findings, published by the Orphanet Journal of Rare Diseases, show there are various challenges to diagnosing CDI and opportunities to improve patient care.

At diagnosis, it can be difficult to differentiate between CDI and other conditions presenting with similar symptoms and it can be challenging to determine the underlying cause of CDI.
Costs associated with diagnosis can vary a great deal depending on the speed of diagnosis and the complexity of the underlying cause, and if additional support is needed, for example, intensive care support in instances of traumatic brain injury, or genetic testing to confirm cause.
CDI is most often treated by replacing AVP with a synthetic vasopressin analogue called desmopressin, in both adult and paediatric populations. The treatment of patients requires careful tailoring of medication doses and formulations to each patient’s needs through a highly personalised approach involving specialist care.
Given that CDI is usually a chronic condition, lifelong management and ongoing monitoring are necessary to ensure that patients respond well to their treatment over time and to ensure that any changes to treatment are carefully managed.
There is also a need to raise awareness about this rare disease among primary care physicians so that they can recognise symptoms and make timely referrals to specialist care.
More information, education and awareness raising is needed for patients, carers and families on how to better manage the condition, for example in light of comorbidities and changes in the circumstances of a patient. Joint working between healthcare providers and patient associations may be helpful.
Improved guidance is needed to support patients, carers, primary care physicians and general paediatricians to identify clinical features earlier, and to consider CDI as a possible diagnosis when a patient presents with suggestive symptoms.