Endocrine Abstracts

Introduction: An aim of the ERNs is empowering patients, by education & learning about their experiences after diagnosis of a rare endocrine disease (RED), to identify gaps and improve outcome. Thus, EndoERN Work Package 4 designed a survey, to learn about patients perceptions on quality of care and existing gaps in diagnosis/management.

Aim: Evaluate results of a 21 question survey answered on-line on a Likert scale by individual patients with RED or support groups.

Patients and method: questions were answered in their own language, related to delay and number of professionals contacted before correct diagnosis, time to find a specialist and specific treatment, satisfaction with current treatment, information received and health care follow-up, possibility of access to specific specialist support, and if not, whether they would have liked to have this access, availability of written information on their condition, contact with patient/support groups, and impact of their condition on everyday quality of life.

Results: There were 598 responses from 25 countries (58% individual patients, 34% patient groups and 8% both); 66% were females. Data from pituitary, adrenal, thyroid, parathyroid, gonadal, genetic and autoimmune endocrine diseases were collected. While in 36% a diagnosis was made in <1 year, in 28% it took more than 5 years. In 64% it took 2 to 7 professionals to reach correct diagnosis, after which in more than half a specialist/specific treatment was available within 1 month; 60% manifested being satisfied with current treatment. As far as access to other health professionals, the majority (59 to 67%) manifested not to have had access to specific psychological support, psychologist/social worker, dietician or physiotherapist/rehabilitation specialist, but would have liked to (42 to 49%), As far as information on their condition, treatment possibilities, and degree of satisfaction with health care follow-up, around half were either satisfied or very satisfied; 53% had received written information on their condition and 87% had contacted patient/support groups; 78% declared to completely or moderately agree with the sentence ‘The personal limitations related to the disease, impact on my everyday quality of life’. Conclusions: Diagnostic delay is a problem in RED, although once diagnosed, access to specific specialists and treatment was mostly <1 month. Most are satisfied with treatment despite significant impact of their condition on their lives and difficulties to access all desired health professionals. Whether these results are extensible to all European patients with RED is unknown.