You are here

Article Text

Article menu

Download PDFPDF

Poster 51
04126 Fatigue in patients with porphyrias – first data from the German Porphyria Registry (PoReGer)
  1. Lea Gerischer1,2,
  2. Perau Said3,
  3. Nils Wohmann4,
  4. Ilja Kubisch4,
  5. Mona Mainert3,
  6. Ulrich Stölzel4,
  7. Rajan Somasundaram3,
  8. Andreas Meisel1,5,
  9. Eva Diehl-Wiesenecker3
  1. 1Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology, Berlin, Germany
  2. 2Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Neuroscience Clinical Research Center, Berlin, Germany
  3. 3Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Emergency Medicine and Porphyria Clinic, Berlin, Germany
  4. 4Department of Internal Medicine II, Saxony Porphyria Center, Klinikum Chemnitz
  5. 5Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Neuroscience Clinical Research Center, Berlin, Germany

Abstract

Background Porphyrias, as most rare diseases, are characterized by complexity and scarcity of knowledge, particularly symptom burden and quality of life. The German Porphyria Registry (PoReGer) was set up to close this gap nationally. Here we present the results of our first evaluation on patient reported outcome measures on Fatigue.

Methods PoReGer was founded in 2023 by four German centers with longstanding porphyria expertise. In a specified data matrix for three subgroups [acute (AP), chronic blistering cutaneous (CBC), acute non-blistering cutaneous (ANC)] data on demographics, symptoms, clinical course and history, follow-up assessments, therapies, and life circumstances are collected longitudinally, at least once a year. Ethics approval and patient´s informed consent were obtained. Enrollment into the registry started in August 2023. To evaluate fatigue the Fatigue-assessment-scale (FAS) questionnaire was used, categorizing patients in 3 different groups (no fatigue, substantial fatigue and extreme fatigue) depending on their answers to 10 Likert-scaled questions.

Results Until May 2024, 23 patients were included, 14 with APs (13 acute intermittent porphyrias, 1 variegate porphyria), 9 with CBCs (all Porphyria cutanea tarda) and 1 with an ANC. In APs median age at inclusion in registry was 40 years; while median age at diagnosis was 27 years. 13 (93%) were female and 6 (43%) reported comorbidities. Median (IQR) total score of the FAS questionnaire was 23 (20;36) in the AP group, with 5 (36%) patients in the category no fatigue, 4 patients (29%) with substantial fatigue and 4 patients (29%) with extreme fatigue. In CBCs median age at inclusion in registry was 64 years; while median age at diagnosis was 59 years. 7 (78%) were female and 7 (78%) reported comorbidities. In the CBC group 4 (44%) patients were categorized with no fatigue and 4 (44%) patients with substantial fatigue. [More patients from all groups and also an analysis of the ‘AP treated with Givosiran’ subgroup are expected until September 2024]

Conclusions This analysis showed fatigue being a relevant comorbidity in patients with different forms of porphyrias. Patients with APs seem to be affected more than patients with CBCs with a third of patients with AP reporting extreme fatigue. With more patients being included in the registry further longitudinal data on fatigue and influencing factors will be gained.

http://creativecommons.org/licenses/by-nc/4.0/

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

https://doi.org/10.1136/bmjgast-2024-ICPP.76

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.