gms | German Medical Science

G-I-N Conference 2012

Guidelines International Network

22.08 - 25.08.2012, Berlin

Experience of patients with a rare disease may be generic for recommendations and guidelines for managing larger patient groups

Meeting Abstract

  • F. Brunsmann - Charité Universitätsmedizin Berlin, Berlin, Germany; Allianz Chronischer Seltener Erkrankungen (ACHSE) E.V., Germany
  • P. Hof - Selbsthilfegruppe Für PXE-Erkrankte Deutschlands 1999 E.V., Germany
  • P. Charbel Issa - Universitäts-Augenklinik, Bonn, Bonn, Germany
  • I. Kopp - AWMF-Institut Für Medizinisches Wissensmanagement, Marburg, Germany
  • K. Rüther - Sankt Gertrauden-Krankenhaus, Berlin, Germany

Guidelines International Network. G-I-N Conference 2012. Berlin, 22.-25.08.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. DocP136

doi: 10.3205/12gin248, urn:nbn:de:0183-12gin2481

Published: July 10, 2012

© 2012 Brunsmann et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.



Background: The role of collective patient experiences in health care needs to be defined. Pseudoxanthoma elasticum (PXE) patient organization in Germany actively supports quality improvement initiatives. There exists no special guideline for the rare disease PXE.

Context: Collective experiences of PXE patients were selectively applied to the update process of a general quality management tool (QM-tool) for ambulatory care.

Description of best practice: Memorised patient experiences were screened by a patient representative with over 10 years of experience in PXE patient support, together with a scientist with experience in the field of patient participation. A first version of the QM-tool was used to guide the screening process. Patient experiences were selected according to following criteria: (i) need for improvements, (ii) relevance for health and (iii) expected impact for other diseases. The following experience fulfilled all criteria: the patient's request for a control examination due to reported symptoms was not identified as urgent by the staff. In PXE, this may lead to avoidable loss of vision. An update of the QM-tool was developed, submitted and accepted by its editors.

Lessons for guideline developers, adaptors, implementers, and/or users: Collective patient experiences in a rare disease have proven to be useful for the update process of a generic QM-tool. Similarly, they could inform the development of guidelines.