ACR Meeting Abstracts

ACR Meeting Abstracts

  • Meetings
    • ACR Convergence 2024
    • ACR Convergence 2023
    • 2023 ACR/ARP PRSYM
    • ACR Convergence 2022
    • ACR Convergence 2021
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • View and print all favorites
    • Clear all your favorites
  • ACR Meetings

Abstract Number: 361

Multi-National Observational Patient Diary Study to Assess Disease Burden of Periodic Fever Syndromes (PFS), Including Colchicine-Resistant Familial Mediterranean Fever (crFMF), TNF-Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD)

Jasmin B. Kuemmerle-Deschner1, Pierre Quartier2, Shai Padeh3, Isabelle Koné-Paut4, Veronique Hentgen5, Katherine A. Marzan6, Fatma Dedeoglu7, Helen J. Lachmann8, Tilmann Kallinich9, Norbert Blank10, Seza Ozen11, Yelda Bilginer12, Jonathan S. Hausmann7,13, Arturo Diaz13, Ravi Degun14, Nina Marinsek14, Jill Gregson15, Kathleen G. Lomax16 and Avi Livneh17, 1Pediatrics, University Hospital Tübingen, Tübingen, Germany, 2Necker-Enfants Malades Hospital, Paris, France, 3Sheba Medical Center, Tel-Hashomer, Israel, 4Bicêtre Hospital, APHP, Univeristy Paris Sud, Paris, France, 5Versailles Hospital, CEREMAI, Le Chesnay, France, 6Division of Rheumatology, Children's Hospital Los Angeles, Los Angeles, CA, 7Boston Children's Hospital, Boston, MA, 8UCL Division of Medicine, UK National Amyloidosis Centre, London, United Kingdom, 9Charité, Humbolt University Medicine Berlin, Berlin, Germany, 10UniversitätsKlinikum Heidelberg, Heidelberg, Germany, 11Department of Pediatrics, Hacettepe University, Ankara, Turkey, 12Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, ANKARA, Turkey, 13Beth Israel Deaconess Medical Center, Boston, MA, 14Life Sciences, Navigant Consulting, London, United Kingdom, 15Novartis Pharma AG, Basel, Switzerland, 16Novartis Pharmaceuticals Corporation, East Hanover, NJ, 17Sheba Medical Center, Ramat-Gan, Israel

Meeting: 2017 ACR/ARHP Annual Meeting

Date of first publication: September 18, 2017

Keywords: Autoinflammatory Disease, Familial Mediterranean fever, patient-reported outcome measures and socioeconomic factors, Traps

  • Tweet
  • Email
  • Print
Session Information

Date: Sunday, November 5, 2017

Title: Patient Outcomes, Preferences, and Attitudes Poster I

Session Type: ACR Poster Session A

Session Time: 9:00AM-11:00AM

Background/Purpose:

Periodic fever syndromes (PFS) are a group of autoinflammatory disorders characterized by recurrent bouts of fever and severe localized inflammation which, if not treated, can result in severe complications such as amyloidosis. Flares can last for several days to weeks and are typically associated with high symptom burden. Due to the rarity of these conditions detailed analysis of the patient experience with PFS is lacking. HEROES (Hereditary Periodic Fevers Burden of Illness Observational Patient Diary Study) is the first international study to document the nature and extent of the humanistic and economic burden experienced by patients (pts) and their families during and between flares.

Methods:

Eligible pts had diagnosis of TRAPS (TNF-receptor associated periodic syndrome), MKD/HIDS (mevalonate kinase deficiency/hyperimmunoglubulinemia D syndrome) or crFMF (colchicine-resistant FMF), were expected to flare at least once every 6 months despite current treatment and be of sufficient severity to be eligible for (or currently receiving) biologic therapy. Investigators provided background information including treatment history and response to colchicine for crFMF pts. Disease burden was captured through participant completion of an electronic diary. Diaries were completed by adult pts (≥18 years old) or caregivers for younger pts; adolescent pts (13-17 years old)provided input into the daily questionnaire. Baseline questionnaire collected background information including demographics, disease history, treatment satisfaction and long-term impact of PFS. Daily and weekly on and off flare forms focused on patient function, emotional/social wellbeing and pain. Quality of life measures by SF-12v2, SF-10v2 and Sheehan Disability Scale version 3 (SDSv3) were quantified. Disease activity was assessed using patient/parent’s global assessment of disease activity (PPGA).

Results: The study enrolled 67 pts across 10 sites in France, Germany, Israel, the UK and the US, including 49 crFMF, 11 MKD/HIDS, and 7 TRAPS pts. Of these, 24 were children (2-12 years old), 11 were adolescents, and 32 were adults. All pts received drug therapy for their PFS. At least one flare was recorded in 58 (87%) pts. Fourteen (40%) children/adolescents reported that PFS impacted their education. Twenty-five (78%) adult pts reported that condition impacted their work achievements. Of the 35 caregivers participating in the study, 71% reported that their child’s PFS impacted their employment. All caregivers not working full-time reported that their child’s PFS was at least one, if not the main reason for reduced working hours. A large proportion (64% and 43%) of pts had at least one hospital or ER visit related to their PFS in the last year, respectively. The vast majority (86% and 88%) of pts and caregivers, respectively, report that PFS interfered with their social activities.

Conclusion:

Severe PFS have a very broad impact on the lives of pts and their families, including work productivity and educational attainment. Therapeutic interventions that reduce the flare burden and long term complications of severe PFS, as well as psychosocial support for pts and caregivers, are needed.


Disclosure: J. B. Kuemmerle-Deschner, Novartis Pharmaceutical Corporation, 2,Novartis Pharmaceutical Corporation, 5; P. Quartier, Novartis Pharmaceutical Corporation, 2,Novartis Pharmaceutical Corporation, 6; S. Padeh, None; I. Koné-Paut, Chugai, 2,Navigant, Novartis, SOBI, PFIZER, Abbvie, Novimmune, LFB, Roche, 5; V. Hentgen, Novartis Pharmaceutical Corporation, 2,Novartis Pharmaceutical Corporation, 5; K. A. Marzan, Novartis Pharmaceutical Corporation, Abbvie, 2; F. Dedeoglu, Novartis Pharmaceutical Corporation, 5; H. J. Lachmann, Novartis, GSK, SOBI, 5; T. Kallinich, None; N. Blank, None; S. Ozen, Novartis Pharmaceutical Corporation, R-Pharm, 5,Roche Pharmaceuticals, 8; Y. Bilginer, None; J. S. Hausmann, None; A. Diaz, None; R. Degun, Novartis Pharmaceutical Corporation, 5; N. Marinsek, Novartis Pharmaceutical Corporation, 5; J. Gregson, Novartis Pharmaceutical Corporation, 3; K. G. Lomax, Novartis Pharmaceutical Corporation, 3,Novartis Pharmaceutical Corporation, 1; A. Livneh, None.

To cite this abstract in AMA style:

Kuemmerle-Deschner JB, Quartier P, Padeh S, Koné-Paut I, Hentgen V, Marzan KA, Dedeoglu F, Lachmann HJ, Kallinich T, Blank N, Ozen S, Bilginer Y, Hausmann JS, Diaz A, Degun R, Marinsek N, Gregson J, Lomax KG, Livneh A. Multi-National Observational Patient Diary Study to Assess Disease Burden of Periodic Fever Syndromes (PFS), Including Colchicine-Resistant Familial Mediterranean Fever (crFMF), TNF-Receptor Associated Periodic Syndrome (TRAPS) and Mevalonate Kinase Deficiency (MKD) [abstract]. Arthritis Rheumatol. 2017; 69 (suppl 10). https://acrabstracts.org/abstract/multi-national-observational-patient-diary-study-to-assess-disease-burden-of-periodic-fever-syndromes-pfs-including-colchicine-resistant-familial-mediterranean-fever-crfmf-tnf-receptor-associate/. Accessed .
  • Tweet
  • Email
  • Print

« Back to 2017 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/multi-national-observational-patient-diary-study-to-assess-disease-burden-of-periodic-fever-syndromes-pfs-including-colchicine-resistant-familial-mediterranean-fever-crfmf-tnf-receptor-associate/

Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts during your browser session by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].

Wiley

  • Online Journal
  • Privacy Policy
  • Permissions Policies
  • Cookie Preferences

© Copyright 2025 American College of Rheumatology