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DOI: 10.1055/a-2251-5382
Diagnostic and Treatment Recommendation

Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom

Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome
Metin Cetiner
1   Department of Pediatrics II, University Hospital Essen, Essen, Germany
,
Carsten Bergmann
2   Human genetic diagnostics, Medical Genetics Mainz, Mainz, Germany
,
Markus Bettendorf
3   Pediatric Endocrinology and Diabetes, Heidelberg University Hospital Department of General Pediatrics Pediatric Neurology Metabolic Diseases Gastroenterology and Nephrology, Heidelberg, Germany
,
Johanna Faust
4   Psychiatry and psychotherapy, Max-Planck-Institute for Psychiatry, München, Germany
,
Anja Gäckler
5   Department of Nephrology, University Hospital Essen, Essen, Germany
,
Bernarda Gillissen
6   Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany
,
Matthias Hansen
7   KFH Kidney Center for Children and Adolescents, Clementine Children’s Hospital - Dr Christ’sche Foundation, Frankfurt am Main, Germany
,
Maximilian Kerber
6   Bardet Biedl syndrome Working Group, PRO RETINA Deutschland e V, Bonn, Germany
,
Günter Klaus
8   KFH Kidney Center for Children and Adolescents, University Hospitals Giessen and Marburg Campus Giessen, Marburg, Germany
,
Jens König
9   Department of General Pediatrics, University Hospital Münster, Münster, Germany
,
Laura Kühlewein 
10   Department of Ophthalmology, University Hospital Tübingen Clinic of Ophthalmology, Tübingen, Germany
,
Jun Oh
11   Pediatric Nephrology, University Medical Center Hamburg-Eppendorf Department of Pediatrics, Hamburg, Germany
,
Annette Richter-Unruh
12   Department of Pediatric Endocrinology and Diabetology, University Hospital of the Ruhr University Bochum, Bochum, Germany
,
Julia von Schnurbein
13   Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany
,
Martin Wabitsch
13   Department of Pediatrics and Adolescent Medicine, Ulm University Hospital, Ulm, Germany
,
Susann Weihrauch-Blüher
14   Department of Pediatrics I, University Hospital Halle, Halle, Germany
,
Lars Pape
1   Department of Pediatrics II, University Hospital Essen, Essen, Germany
› Author Affiliations Funding Information Rhythm Pharmaceuticals — Funding of two conference meetings
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Zusammenfassung

Das Bardet-Biedl-Syndrom (BBS) ist eine seltene, autosomal-rezessiv vererbte Multisystemerkrankung. Pathophysiologisch liegt eine Funktionsstörung des Primärziliums vor. Die Klinik ist heterogen und variabel und zeigt sich insbesondere in einer Retinadystrophie, Adipositas, Polydaktylie, Nierenauffälligkeiten, Hypogonadismus und Entwicklungsverzögerungen. Mit der Zulassung des Melanocortin 4-Rezeptor-Agonisten Setmelanotid kann erstmals eine medikamentöse Therapie der BBS-assoziierten Hyperphagie und der Adipositas angeboten werden. Hyperphagie und das starke Übergewicht bereits im Kindesalter stellen eine erhebliche Krankheitslast dar und gehen zudem mit einem Komorbiditäts- und erhöhtem Mortalitätsrisiko einher. Aufgrund der limitierten Erfahrungen mit Setmelanotid bei BBS soll hiermit ein tragfähiges umfassendes Therapiekonzept vorgelegt werden. Die Therapie sollte nach genetisch gesicherter Diagnose und individueller Indikationsstellung in Zentren mit spezieller Expertise erfolgen. Voraussetzungen für den bestmöglichen Therapieeffekt mit Setmelanotid ist die adäquate Aufklärung des Patienten über die Modalitäten der Therapie (tägliche subkutane Injektion) und mögliche unerwünschte Arzneimittelwirkungen. Des Weiteren ist gemeinsam mit dem Patienten die Einbeziehung von Psychologen, Ernährungsberatern und Pflegediensten (Support bei der Applikation) zu erwägen. Die Beurteilung des Therapieerfolgs sollte mit geeigneten Outcome-Measurements erfolgen und zur Evidenzförderung zentralisiert mittels etablierter Register-Infrastrukturen erfasst werden.

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.

Schlüsselwörter

Bardet-Biedl-Syndrom - Hyperphagie - Adipositas - Setmelanotid - Therapiekonzept

Keywords

Bardet-Biedl syndrome - hyperphagia - obesity - Setmelanotide - therapy conceptArtikel online veröffentlicht 2024


Publication History

Article published online:
08 March 2024

© 2024. 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/).

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