A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference

Abstract

Background The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in the management of these lifelong diseases. Moreover, standardised disease activity scores are required for the assessment of new therapies in constant development. The aim of this study was to develop preliminary activity scores for familial Mediterranean fever, mevalonate kinase deficiency, tumour necrosis factor receptor-1-associated periodic syndrome and cryopyrin-associated periodic syndromes (CAPS). Methods The study was conducted using two well-recognised consensus formation methods: the Delphi technique and the nominal group technique. The results from a two-step survey and data from parent/patient interviews were used as preliminary data to develop the agenda for a consensus conference to build a provisional scoring system. Results 24 of 65 experts in SAID from 20 countries answered the web questionnaire and 16 attended the consensus conference. There was consensus agreement to develop separate activity scores for each disease but with a common format based on patient diaries. Fever and disease-specific clinical variables were scored according to their severity. A final score was generated by summing the score of all the variables divided by the number of days over which the diary was completed. Scores varied from 0 to 16 (0–13 in CAPS). These scores were developed for the purpose of clinical studies but could be used in clinical practice. Conclusion Using widely recognised consensus formation techniques, preliminary scores were obtained to measure disease activity in four main SAID. Further prospective validation study of this instrument will follow.

The myths we believed in familial Mediterranean fever: what have we learned in the past years?

“…AIDAI is a tool for assessing disease activity in AIDs namely FMF, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, and cryopyrinassociated periodic syndromes [61]. There are 13 items in AIDAI as follows: fever, overall symptoms, abdominal pain, nausea/vomiting, diarrhea, headaches, chest pain, painful nodes, arthralgia or myalgia, swelling of the joints, eye manifestations, skin rash, and pain relief.…”

Muckle-Wells Syndrome Effectively Treated with Canakinumab: Is the Recommended Dosing Schedule Mandatory?

“…In order to objectively measure disease activity in CAPS (and other autoinflammatory diseases) a disease activity score has recently been proposed by a consensus conference [14]. Hereby, the final score is calculated by a sum of daily reported scores for CAPS-related variables (e.g.…”

Abdominal pain and fever in a patient with familial periodic fever: an extremely rare mutation of the TNF receptor superfamily member 1A gene

“…5 FPF was first described in Irish family in 1982 and since then more than twenty families affected by FPF have been described in Australia, South America, United States and Europe. [1][2][3][4][5] In FPF, clinical manifestation may vary significantly as well as the symptom-free intervals duration. The median age at onset is 10 years old.…”

“…3 Clinical scores based on the clinical manifestations have been established in order to identify the PFS without performing genetic tests. 4 However, because of the wide spectrum of symptoms, this goal remains arduous and both sequential and simultaneous genetic analyses are nowadays considered the gold standard in the PFSs diagnosis. 3,4 In this article, we report a case of TNF-receptor-associated periodic syndrome sustained by the TNFRSF1A gene mutation.…”