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Die Ehlers-Danlos-Syndrome mit Schwerpunkt auf dem hypermobilen Typ

Literaturreview und Update
  • Karina U. SturmEmail author
  • Markus-Frederik Bohn
Originalien

Zusammenfassung

Die Ehlers-Danlos-Syndrome (EDS) sind eine Gruppe seltener, hereditärer, multisystemischer Bindegewebserkrankungen, die Gelenke, Sehnen, Muskeln, Organe, Haut und Gefäße betreffen können. Durch die Vielfalt der Symptome und die unterschiedliche Krankheitsausprägung selbst bei gleichem EDS-Typ ist die Diagnostik für viele Ärzte eine Herausforderung. Doch erstmals seit 20 Jahren wurden 2017 eine neue Klassifikation und striktere Kriterien veröffentlicht, die dazu beitragen sollen, dass Patienten schneller diagnostiziert und besser behandelt werden können. Laut der neuen Klassifikation differenziert man 13 Typen der Ehlers-Danlos-Syndrome, die sich durch ihre genetischen Ursachen und Verlaufsformen unterscheiden. Am häufigsten kommt das hypermobile EDS (hEDS) vor, welches gleichzeitig in Kombination mit anderen Komorbiditäten wie dem posturalen orthostatischen Tachykardiesyndrom (POTS), dem Mastzellaktivierungssyndrom (MCAS), der Osteoporose, der Neuropathie, der Myopathie, der Mitralklappeninsuffizienz und vielen anderen auftritt. Gerade aufgrund dieser Komorbiditäten ist die Behandlung der EDS schwierig und stellt die verschiedensten Fachärzte vor große Herausforderungen. Neue Managementguidelines widmen sich nicht nur der Behandlung, sondern fokussieren gleichermaßen auf die gegenseitige Beeinflussung durch komorbide Erkrankungen und geben einen Leitfaden für die derzeit nur symptomatische Therapie der EDS. Diese besteht aus konservativer physikalischer Therapie, einer Schmerztherapie, der Nutzung diverser Hilfsmittel, operativen Interventionen und der Behandlung aller komorbiden Faktoren, um die bestmögliche Lebensqualität zu erzielen. Die Krankheitsausprägung kann von leichter Hypermobilität bis zu schwerer körperlicher Behinderung reichen.

Schlüsselwörter

Erbliche Bindegewebserkrankung Beighton Score Hypermobilität POTS Mastzellaktivierungssyndrom 

The Ehlers-Danlos syndromes with an emphasis on the hypermobile Ehlers-Danlos syndrome

Literature review and update

Abstract

The Ehlers-Danlos syndromes (EDS) encompass a group of rare, hereditary, multisystemic connective tissue disorders that can affect joints, tendons, muscles, inner organs, skin, and blood vessels. Due to the variety of symptoms and different disease phenotypes, even within the same type of EDS, diagnosis is challenging. However, for the first time in 20 years, a new classification and stricter criteria that may help to diagnose EDS patients faster and treat them more efficiently were published in 2017. The new classification differentiates 13 types of EDS, which are distinguished by their genetic causes and symptoms. The most prevalent type is the hypermobile EDS (hEDS), which frequently occurs in combination with other comorbidities such as postural orthostatic tachycardia syndrome (POTS), mast cell activation syndrome (MCAS), osteoporosis, neuropathy, myopathy, mitral valve regurgitation, and many more. Precisely because of these comorbidities, treatment of EDS is challenging and provides major obstacles for a variety of specialists. New management guidelines are not only dedicated to provide a protocol for the treatment of EDS but also focus on the mutual influence of comorbid conditions and their management. Treatment consists of physical therapy, pain medication, various supportive aids, surgical interventions, and the treatment of all comorbid factors in order to achieve the best possible quality of life. The disease severity can range from mild hypermobility to significant physical disability.

Keywords

Heritable disorder of connective tissue Beighton Score Hypermobility  POTS Mast cell activation syndrome 

Notes

Danksagung

Herzlichen Dank für die freundlichen Zusendungen der Beighton-Score-Bilder (Abb. 2) von Denise Bartels, Ulrike Felgentreu und Petra Busch (mit Fotograf Paul Gellert).

Einhaltung ethischer Richtlinien

Interessenkonflikt

K. U. Sturm und M.-F. Bohn geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Copyright information

© Springer-Verlag GmbH Austria, ein Teil von Springer Nature 2019

Authors and Affiliations

  1. 1.NeumarktDeutschland
  2. 2.University of CaliforniaSan FranciscoUSA

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