ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P1017 | DOI: 10.1530/endoabs.63.P1017

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Haïfa Layachi-Rahabi1, Maria Givony2, Béatrice Demaret3, Philippe Brun4, Marie-Reine Aubron5, Béate Bartès6, Lucie Bernard7, Amélie Victor8, Véronique Dujardin9, Catherine Lançon10, Bénédicte Perrotin11, Virginie Picard12, Naïm Bouazza13, Hendy Abdoul13, Sabine Malivoir14, Murielle Ribeiro15, Irène Netchine14, Delphine Drui16, Rachel Reynaud1, Véronique Tardy Guidollet17, Jérôme Bertherat18, Claudine Colin19 & Thierry Brue1


1Centre de référence Maladies Rares de l’hypophyse, Assistance Publique-Hôpitaux de Marseille, Marseille, France; 2Filière Santé Maladies Rares Endocriniennes FIRENDO, Assistance Publique-Hôpitaux de Paris, Paris, France; 3Association Grandir, Asnières-sur-Seine, France; 4Association Assymcal, association des Malades du Syndrome de McCune-Albright et de dysplasie fibreuse des os, La Roche sur Yon, France; 5Association de patients: Craniopharyngiome Solidarité, Saint-Hilaire-de-Riez, France; 6Association de patients: Vivre sans thyroïde, Toulouse, France; 7Association de patients: MAIA (Association pour aider toutes les personnes confrontées à l’infertilité), Paris, France; 8Association de patients: Association MRKH, syndrome de Rokitansky, Paris, France; 9Association de patients: Valentin APAC (Association de Porteurs d’Anomalies Chromosomiques), Poitiers, France; 10Association de patients: Association Acromégales, Pas Seulement…, Eole en Beauce, France; 11Association de patients: AFIF/SSR (Association Française des familles ayant un enfant atteint du syndrome de Silver-Russell, ou né petit pour l’âge gestationnel et leurs amis), Angers, France; 12Association Syndrome de Wolfram, Grand-Champ, France; 13Unité de Recherche Clinique Paris Centre, Assistance Publique – Hôpitaux de Paris, Paris, France; 14Centre de référence Maladies Endocriniennes de la Croissance et du Développement, Assistance Publique Hôpitaux de Paris, Paris, France; 15Equipe relais Handicaps Rares Pays de la Loire, Angers, France; 16Service Endocrinologie, Diabétologie, Maladies Métaboliques, L’institut du thorax, CHU de Nantes, Nantes, France; 17Unité Médicale Pathologies Endocriniennes Rénales Musculaires et Mucoviscidose, Hospices Civils de Lyon, Lyon, France; 18Filière Santé Maladies Rares Endocriniennes FIRENDO, Centre de Référence Maladies Rares de la Surrénale, Assistance Publique-Hôpitaux de Paris, Paris, France; 19Association de patients: Association Surrénales, Yvetot, France.


Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education, care and research on rare endocrine diseases. Patients associations are FIRENDO active members and listed as a main subject diagnostic announcement and its consequences on disease management.

Objectives: The aim of this study was to characterize for the first time the experience of patients and/or their parents around the announcement of diagnosis, and to define their needs in order to ensure optimal quality of care.

Methods: A quantitative self-administered survey on diagnosis announcement procedures in rare endocrine diseases was launched in April 2017 under the auspices of the FIRENDO thematic working group in collaboration with its partnering patient support groups. The questionnaire was designed by 2 adult and 2 pediatric endocrinologists, 2 psychologists and 1 biologist, all experts in rare endocrine diseases, and revised by patient support groups’ representatives; it was made available on the FIRENDO network website and spread mainly by email to members of the 16 patient support groups affiliated to the network, with electronic links on their respective websites.

Results: Questionnaires were filled by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were represented by 30 answers or more: Addison’s disease, classical forms of Congenital Adrenal Hyperplasia (CAH), Silver-Russel syndrome, Cushing’s syndrome, acromegaly and craniopharyngiomas. The analysis revealed that some modalities of announcement were considered as favorable by patients: the physician’s empathy, availability and use of clear terms, presence of family at the time of announcement. However, a lack of psychological care and information documents was reported as well as some inadequate procedures like postal mail announcements.

Conclusion: This work confirmed that better knowledge of the patient’s experience is useful for improving the diagnosis announcement of rare endocrine disorders. The main recommendations derived from the survey were the need for several announcement visits, and informing on patient support groups and reference centers; the ban of impersonal announcement and the usefulness of a written accompanying document.

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