The experience of diagnosis announcement in rare endocrine diseases: A survey of the French FIRENDO network.

CONTEXT: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step in the management of severe conditions such as rare endocrine diseases. Little is known of how diagnosis is communicated to patients and families. The FIRENDO network was created by the third French Plan for Rare Diseases, to promote autonomy, care and research on rare endocrine diseases. OBJECTIVES: The aim of this study was to characterize, for the first time, the experience and needs of patients and/or their parents around the announcement of diagnosis 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 by the ad hoc FIRENDO thematic working group in collaboration with its 11 partnering patient associations and support groups. The questionnaire was designed and revised by patient support group representatives, adult and pediatric endocrinologists, psychologists and biologists, all expert in rare endocrine diseases. It was made available on the FIRENDO network website and distributed mainly by email with electronic links on their respective websites to members of all affiliated patient support groups. RESULTS: Questionnaires were filled out by 391 patients and 223 parents (median age of patients: 39 years). The following conditions were associated with at least 30 answers: Addison's disease, classical forms of congenital adrenal hyperplasia (CAH), Russell-Silver syndrome, Cushing's syndrome, acromegaly and craniopharyngioma. Overall, some announcement modalities were judged favorably by patients: physician's empathy, availability and use of clear terms, and 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 such as postal mail announcements. CONCLUSION: This work suggests 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, information on patient support groups and reference centers, imperatively avoiding impersonal announcement, and the usefulness of a written accompanying document.

Use of lenvatinib in the treatment of radioiodine-refractory differentiated thyroid cancer: a multidisciplinary perspective for daily practice.

Background: Most thyroid cancers of follicular origin have a favorable outcome. Only a small percentage of patients will develop metastatic disease, some of which will become radioiodine refractory (RAI-R). Important challenges to ensure the best therapeutic outcomes include proper, timely, and appropriate diagnosis; decisions on local, systemic treatments; management of side effects of therapies; and a good relationship between the specialist, patients, and caregivers. Methods: With the aim of providing suggestions that can be useful in everyday practice, a multidisciplinary group of experts organized the following document, based on their shared clinical experience with patients with RAI-R differentiated thyroid cancer (DTC) undergoing treatment with lenvatinib. The main areas covered are patient selection, initiation of therapy, follow-up, and management of adverse events. Conclusions: It is essential to provide guidance for the management of RAI-R DTC patients with systemic therapies, and especially lenvatinib, since compliance and adherence to treatment are fundamental to achieve the best outcomes. While the therapeutic landscape in RAI-R DTC is evolving, with new targeted therapies, immunotherapy, etc., lenvatinib is expected to remain a first-line treatment and mainstay of therapy for several years in the vast majority of patients and settings. The guidance herein covers baseline work-up and initiation of systemic therapy, relevance of symptoms, multidisciplinary assessment, and patient education. Practical information based on expert experience is also given for the starting dose of lenvatinib, follow-up and monitoring, as well as the management of adverse events and discontinuation and reinitiating of therapy. The importance of patient engagement is also stressed.

Tackling Thyroid Cancer in Europe-The Challenges and Opportunities.

Thyroid cancer (TC) is the most common malignancy of the endocrine system that affects the thyroid gland. It is usually treatable and, in most cases, curable. The central issues are how to improve knowledge on TC, to accurately identify cases at an early stage that can benefit from effective intervention, optimise therapy, and reduce the risk of overdiagnosis and unnecessary treatment. Questions remain about management, about treating all patients in referral centres, and about which treatment should be proposed to any individual patient and how this can be optimised. The European Alliance for Personalised Medicine (EAPM) hosted an expert panel discussion to elucidate some of the challenges, and to identify possible steps towards effective responses at the EU and member state level, particularly in the context of the opportunities in the European Union's evolving initiatives-notably its Beating Cancer Plan, its Cancer Mission, and its research funding programmes. Recommendations emerging from the panel focus on improved infrastructure and funding, and on promoting multi-stakeholder collaboration between national and European initiatives to complement, support, and mutually reinforce efforts to improve patient care.

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion. Summary: The recommendations include the various neonatal screening approaches for CH as well as the etiology (also genetics), diagnostics, treatment, and prognosis of both primary and central CH. When CH is diagnosed, the expert panel recommends the immediate start of correctly dosed levothyroxine treatment and frequent follow-up including laboratory testing to keep thyroid hormone levels in their target ranges, timely assessment of the need to continue treatment, attention for neurodevelopment and neurosensory functions, and, if necessary, consulting other health professionals, and education of the child and family about CH. Harmonization of diagnostics, treatment, and follow-up will optimize patient outcomes. Lastly, all individuals with CH are entitled to a well-planned transition of care from pediatrics to adult medicine. Conclusions: This consensus guidelines update should be used to further optimize detection, diagnosis, treatment, and follow-up of children with all forms of CH in the light of the most recent evidence. It should be helpful in convincing health authorities of the benefits of neonatal screening for CH. Further epidemiological and experimental studies are needed to understand the increased incidence of this condition.

Management of thyroid cancer: results from a German and French patient survey.

OBJECTIVE: Various national and international guidelines for the management of thyroid cancer exist. The aim of this survey was to evaluate whether patients experience differences regarding the management of thyroid cancer in Germany and in France. METHODS: An online survey addressing diagnosis, treatment, aftercare, and information needs of thyroid cancer survivors was set up by the German and the French nationwide thyroid cancer self-help organizations. The survey consisted of up to 70 questions depending on the given answers. Descriptive statistics and univariate comparisons, if appropriate, for comparing thyroid cancer survivors in Germany and France were performed. RESULTS: In total, 1254 thyroid cancer survivors took part in the survey, of whom 1005 were included in the analysis, 618 from Germany and 387 from France. Remarkable differences between the two countries were observed regarding waiting times, diagnostics, surgical complications, radioiodine treatment, and aftercare of the patients. A high disease burden and lack of information regarding the condition and its treatment were reported in both countries. CONCLUSION: This large survey showed that despite various guidelines for the management of thyroid cancer, thyroid cancer survivors' experiences are noticeably different between two big European countries. Lack of information and unmet needs are still tasks to be addressed in order to optimize thyroid cancer care.

Results of the Thyroid Cancer Alliance international patient/survivor survey: Psychosocial/informational support needs, treatment side effects and international differences in care.

OBJECTIVE: To comprehensively assess the experience of a large, diverse cohort and identify potential care improvements, the Thyroid Cancer Alliance, an international patient/survivor group coalition, surveyed thyroid cancer patients/survivors worldwide. DESIGN: English, German, French or Spanish versions of a self-developed 43-item questionnaire were completed, predominantly online, by 2398 respondents from the US (37.9%), Germany (21.3%), the UK (11.5%), Canada (11.4%), France (9%), and 35 other countries. Females and differentiated thyroid carcinoma patients each comprised ~87% of respondents. Diagnosis occurred at age 30-59 years in 71.8%, within <1 (1-5) year(s) before survey completion in 16.4% (55%). RESULTS: At diagnosis, no psychological (or other professional) support was offered to 92.6% (76.9%) of respondents, no patient organization referral was made to 84.1%, and no clear written disease/treatment information was given to 63%. The five leading care improvement suggestions involved increased informational/psychosocial support. Among respondents undergoing neck surgery pre-survey completion (n = 2380), 72.5% reported at least transient complications, including hypocalcemia (38.8%), voice problems (36.2%), numbness (28.7%), or restricted neck/shoulder movement (27.6%). CONCLUSIONS: This large, multinational, patient/survivor-initiated cross-sectional survey suggests that thyroid cancer patients/survivors have substantial unmet informational/psychosocial support needs and suffer frequent treatment morbidity; disease management and some patient/survivor experience differ appreciably among countries.