TY - JOUR
T1 - Treatment of autoinflammatory diseases
T2 - results from the Eurofever Registry and a literature review
AU - Ter Haar, Nienke
AU - Lachmann, Helen
AU - Özen, Seza
AU - Woo, Pat
AU - Uziel, Yosef
AU - Modesto, Consuelo
AU - Koné-Paut, Isabelle
AU - Cantarini, Luca
AU - Insalaco, Antonella
AU - Neven, Bénédicte
AU - Hofer, Michael
AU - Rigante, Donato
AU - Al-Mayouf, Sulaiman
AU - Touitou, Isabelle
AU - Gallizzi, Romina
AU - Papadopoulou-Alataki, Efimia
AU - Martino, Silvana
AU - Kuemmerle-Deschner, Jasmin
AU - Obici, Laura
AU - Iagaru, Nicolae
AU - Simon, Anna
AU - Nielsen, Susan
AU - Martini, Alberto
AU - Ruperto, Nicolino
AU - Gattorno, Marco
AU - Frenkel, Joost
AU - Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever/Eurotraps Projects
PY - 2013/5
Y1 - 2013/5
N2 - OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase.RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative.CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
AB - OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase.RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative.CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
KW - Acne Vulgaris
KW - Arthritis, Infectious
KW - Cryopyrin-Associated Periodic Syndromes
KW - Europe
KW - Familial Mediterranean Fever
KW - Humans
KW - Mevalonate Kinase Deficiency
KW - Pyoderma Gangrenosum
KW - Registries
U2 - 10.1136/annrheumdis-2011-201268
DO - 10.1136/annrheumdis-2011-201268
M3 - Journal article
C2 - 22753383
SN - 0003-4967
VL - 72
SP - 678
EP - 685
JO - Annals of the Rheumatic Diseases
JF - Annals of the Rheumatic Diseases
IS - 5
ER -