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Session 10 – Rational approach(es) to diagnosis and care in cutaneous porphyrias (September 25th, 2024)
Thematic area: recent advances in the pathophysiology of porphyrias
04129 Quality of life in patients with porphyrias – first data from the German Porphyria Registry (PoReGer)
  1. Eva Diehl-Wiesenecker1,
  2. Perau Said1,
  3. Nils Wohmann2,
  4. Ilja Kubisch2,
  5. Mona Mainert1,
  6. Ulrich Stölzel2,
  7. Rajan Somasundaram1,
  8. Lea Gerischer3,4
  1. 1Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Emergency Medicine and Porphyria Clinic, Berlin, Germany
  2. 2Department of Internal Medicine II, Saxony Porphyria Center, Klinikum Chemnitz gGmbH, Chemnitz, Germany
  3. 3Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology, Berlin, Germany
  4. 4Charité – 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 quality of life (QoL).

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. Enrolment into the registry started in August 2023. To evaluate QoL the EQ-5D-5L questionnaire was used. The results were compared to the population based EQ-5D-5L visual analog scale (VAS) norm for Germany across all age groups, which is 77%.

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 self-rated health status using EQ-5D-5L VAS was 73 (IQR 58;90) in APs. In the subitem pain or discomfort, 71% of patients with APs reported experiencing any pain/discomfort and 28% reported moderate or severe pain/discomfort. 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. Median self-rated health status using EQ-5D-5L VAS was 60 (IQR 31;75) in CBCs. In the subitem pain or discomfort, 67% of patients with CBCs reported experiencing any pain/discomfort and 33% reported moderate pain/discomfort. In both APs and CBCs, the values for EQ-5D-5L VAS were lower in patients with pre-existing comorbidities and older age. [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 QoL in patients with different forms of porphyrias being lower than in the general German population. Not only the porphyria diagnosis, but also other comorbidities and age have an impact on the results of the score. Two thirds of patients reported experiencing any pain or discomfort in everyday life, which highlights a substantial chronic disease burden. With more patients being included in the registry, further longitudinal data on QoL 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.28

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