1. [Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].
- Author
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Cetiner M, Bergmann C, Bettendorf M, Faust J, Gäckler A, Gillissen B, Hansen M, Kerber M, Klaus G, König J, Kühlewein L, Oh J, Richter-Unruh A, von Schnurbein J, Wabitsch M, Weihrauch-Blüher S, and Pape L
- Subjects
- Humans, Child, Adolescent, Receptor, Melanocortin, Type 4 genetics, Combined Modality Therapy, Intersectoral Collaboration, Interdisciplinary Communication, Obesity, Morbid complications, Bardet-Biedl Syndrome therapy, Bardet-Biedl Syndrome diagnosis, Hyperphagia therapy, Hyperphagia diagnosis, Hyperphagia etiology
- Abstract
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multisystem disease. The pathophysiological origin is a dysfunction of the primary cilium. Clinical symptoms are heterogeneous and variable: retinal dystrophy, obesity, polydactyly, kidney abnormalities, hypogenitalism and developmental delays are the most common features. By the approval of the melanocortin 4 receptor agonist setmelanotide, a drug therapy for BBS-associated hyperphagia and obesity can be offered for the first time. Hyperphagia and severe obesity represent a considerable burden and are associated with comorbidity and increased mortality risk. Due to the limited experience with setmelanotide in BBS, a viable comprehensive therapy concept is to be presented. Therapy decision and management should be conducted in expert centers. For best therapeutic effects with setmelanotide adequate information of the patient about the modalities of the therapy (daily subcutaneous injection) and possible adverse drug events are necessary. Furthermore, the involvement of psychologists, nutritionists and nursing services (support for the application) should be considered together with the patient. The assessment of therapy response should be carried out with suitable outcome measurements and centrally reported to an adequate register., Competing Interests: M.C., C.B., J.K., J.O., L.P., J.vS., L.P. haben während der letzten 3 Jahre ein Beraterhonorar von der Firma Rhythm Pharmaceuticals erhalten, M.C., L.P. haben während der letzten 3 Jahre Vortragshonorare von der Firma Rhythm Pharmaceuticals erhalten. M.C. erhielt während der letzten 3 Jahre Studienunterstützung von der Firma Rhythm Pharmaceuticals. M.B., J.F., A.G., B.G., M.H., M.K., G.K., L.K., A.RU, M.W., S.WB geben an, dass kein Interessenkonflikt besteht., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).)
- Published
- 2024
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