Das Gorham-Stout-Syndrom – eine diagnostische und therapeutische Herausforderung

Zusammenfassung

Das Gorham-Stout-Syndrom (GSS) beschreibt ein pathophysiologisch idiopathisches Krankheitsbild, welches mit Osteolysen und Proliferationen von Blut- und Lymphgefäßen assoziiert wird. In der Literatur sind nur rund 300 Fälle dieses seltenen mono- oder polyostostischen Krankheitsbildes beschrieben. In diesem Beitrag präsentieren wir zwei Patienten, die am GSS erkrankt sind. Ihre jeweilige Krankheitsgeschichte mit einer deutlich verzögerten Diagnosestellung, limitierten Behandlungsoptionen sowie unerwünschten Nebenwirkungen im Rahmen der medikamentösen Therapie verdeutlicht die Komplexität von Diagnostik und Behandlung des GSS.

Abstract

Gorham-Stout syndrome (GSS) describes a pathophysiological idiopathic entity associated with osteolytic lesions and proliferation of blood- and lymph vessels. There are only around 300 reported cases of this rare, mono- or polyostostic condition in literature. This article presents the cases of two patients with GSS. Their respective medical histories with a delayed diagnosis of the disease, limited treatment options as well as treatment side-effects emphasise the complexity of diagnosis and treatment in GSS.

Schlüsselwörter

Gorham-Stout-Syndrom - medikamentöse Therapie - Bisphosphonate - Chylothorax - Nebenwirkungen

Key words

Gorham-Stout Syndrom - vanishing bone disease - medical treatment - bisphosphonates - chylothorax - treatment side-effects

Publication History

Received: 09 March 2020

Accepted: 12 March 2020

Article published online:
02 June 2020

• Literatur

• 1 Schneider KN, Gosheger G, Andreou D. Gorham-Stout syndrome. Dtsch Arztebl Int 2019 Jul 22; 116 (29–30): 507
• 2 Schneider KN, Masthoff M, Gosheger G. et al. Gorham-Stout disease: Good results of bisphosphonate treatment in 6 of 7 patients. Acta Orthop. Taylor & Francis; 2020 Jan 13; 137 (02) : 1-6
• 3 Patel DV. Gorham’s Disease or Massive Osteolysis. Clin Med Res. Marshfield Clinic; 2005 May 1 3 (02) : 65-74
• 4 Dellinger MT, Garg N, Olsen BR. Viewpoints on vessels and vanishing bones in Gorham-Stout disease. Bone. The Authors; 2014 Jun 1; 63 (C): 47-52
• 5 Rossi M, Buonuomo PS, Battafarano G. et al. Dissecting the mechanisms of bone loss in Gorham-Stout disease. Bone 2020 Jan; 130: 115068
• 6 Iacobas I, Adams DM, Pimpalwar S. et al. Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies-expert opinion consensus. Pediatr Blood Cancer 2020 Jan; 67 (01) : e28036
• 7 de Keyser CE, Saltzherr MS, Bos EM. et al. A large skull defect due to Gorham-Stout disease: case report and literature review on pathogenesis, diagnosis, and treatment. Front Endocrinol (Lausanne) 2020; 11: 37
• 8 Eghbali-Fatourechi G. Bisphosphonate therapy in pediatric patients. J Diabetes Metab Disord 2014; 13 (01) : 109