Acquired hypothalamic dysfunction in childhood: 'what do patients need?' - an Endo-ERN survey

Abstract

Objective: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, the signs and symptoms of hypothalamic dysfunction may be difficult to recognize, leading to delayed diagnosis of the suprasellar brain tumor or to difficulties in finding the health-care expertise for hypothalamic dysfunction after tumor treatment. To improve the care and outcome of patients with acquired hypothalamic dysfunction, professionals are required to understand the patient's needs.

Design: A worldwide online survey was distributed from April 2022 to October 2022 to patients with childhood-onset hypothalamic dysfunction (as reported by the patient) following a brain tumor.

Methods: Patients were notified about the survey through patient advocacy groups, the SIOPe craniopharyngioma working group and the Endo-ERN platform.

Results: In total, 353 patients with hypothalamic dysfunction following craniopharyngioma (82.2%), low-grade glioma (3.1%) or a pituitary tumor (8.2%) or caregivers responded to the survey. Sixty-two percent had panhypopituitarism. Obesity (50.7%) and fatigue (48.2%) were considered the most important health problems. Unmet needs were reported for help with diet, exercise and psychosocial issues. Patients' suggestions for future research include new treatments for hypothalamic obesity and alternative ways for hormone administration.

Conclusions: According to the patient's perspective, care for acquired hypothalamic dysfunction can be improved if delivered by experts with a holistic view of the patient in a multidisciplinary setting with a focus on quality of life. Future care and research on hypothalamic dysfunction must integrate the patients' unmet needs.

Significance statement: Patients with hypothalamic dysfunction may experience a variety of symptoms, which are not always adequately recognized or addressed. In previous papers, the perspective of caregivers of children with craniopharyngioma has been reported (Klages et al. 2022, Craven et al. 2022). Now we address the patients' perspective on acquired hypothalamic dysfunction using an Endo-ERN global survey. According to the patients' perspective, care can be improved, with needs for improvement in the domains of obesity, fatigue and lifestyle. Research may focus on ways to improve hypothalamic obesity and alternative ways for hormone administration. Ideally, care should be delivered by doctors who have a holistic view of the patient in a multidisciplinary expert team. The results of this study can be used to formulate best practices for clinical care and to design future research proposals.

Keywords: childhood; early onset; hypothalamic dysfunction; patient perspective; suprasellar brain tumors.

Figure 1

Current country of residence of the study-population. (A) World-wide. (B) In Europe.

Figure 2

Reported time between symptoms of the suprasellar brain tumor and final diagnosis. Time between the first symptoms to the moment of final diagnosis of the suprasellar brain tumor as reported by patients or their parents/caregivers. The x-axis shows the percentage of patients and the y-axis shows the time between the first symptom(s) and the final diagnosis of brain tumor, as reported by the patient.

Figure 3

Most important current health problems and current unmet need as reported by the patients. (A) Current health problems. (B) Unmet needs of patients with hypothalamic dysfunction. (A) patients were asked to report their three most important health problems; therefore, the total percentage exceeds 100%.

Figure 4

Rating of the guidance that patients receive from various disciplines (A, B, C). Patients were asked how they perceived the guidance or help of various specialists as currently received. (A) Endocrinologist. (B) Dietitian. (C) Psychologist.

Figure 5

Patient ideas upon the domains for future research. Patients were asked upon their suggestions for future research. Only the topics with more than ten responses are included in the figure. Most patients report that future research should focus on the hypothalamic obesity (26.6%) and alternative/improved ways of hormone substitution therapy (24.9%).