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. Hausmann^7,13, 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

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 .

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