EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases.

Patients' perceptions on quality of care and gaps in diagnosis/management of rare endocrine diseases (RED) were collected in a 21-item questionnaire, answered on-line in the patients' language. There were 598 (66% females) responses from 29 countries reflecting pituitary, adrenal, thyroid, parathyroid, gonadal, genetic and autoimmune diseases. While in 36% a diagnosis was made in <1 year, in 28% it took >5 years. In 64% it took 2-7 professionals for a correct diagnosis, after which in >50% a specialist/specific treatment was available within 1 month; 60% were satisfied with current treatment. Most (59-67%) would have liked access to psychological support, social worker, dietician or physiotherapist/rehabilitation specialists. Half were satisfied with information received, treatment and health care follow-up; 87% contacted patient/support groups; 78% agreed that "The personal limitations related to the disease, impact on my everyday quality of life".
Conclusion: Diagnostic delay in RED is still unsatisfactory in Europe, as well as specific needs impacting QoL.