Development of the autoinflammatory disease damage index (ADDI)

Abstract

OBJECTIVES:\ud Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency.\ud METHODS:\ud We developed the ADDI by consensus building. The top 40 enrollers of patients in the Eurofever Registry and 9 experts from the Americas participated in multiple rounds of online surveys to select items and definitions. Further, 22 (parents of) patients rated damage items and suggested new items. A consensus meeting was held to refine the items and definitions, which were then formally weighted in a scoring system derived using decision-making software, known as 1000minds.\ud RESULTS:\ud More than 80% of the experts and patients completed the online surveys. The preliminary ADDI contains 18 items, categorised in the following eight organ systems: reproductive, renal/amyloidosis, developmental, serosal, neurological, ears, ocular and musculoskeletal damage. The categories renal/amyloidosis and neurological damage were assigned the highest number of points, serosal damage the lowest number of points. The involvement of (parents of) patients resulted in the inclusion of, for example, chronic musculoskeletal pain.\ud CONCLUSIONS:\ud An instrument to measure damage caused by autoinflammatory diseases is developed based on consensus building. Patients fulfilled a significant role in this process

Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management

“…There is also one recent tool for AID including FMF to quantify damage in patients and to compare disease outcomes in clinical studies; autoinflammatory disease damage index (ADDI) (139). …”

New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

“…Their overlapping clinical features include fever, myalgia, arthralgia, fatigue, skin rash and common laboratory features include elevated serum inflammatory markers such as C reactive protein and serum amyloid A protein. Their presentation is markedly heterogeneous, ranging from isolated recurrent fever to severe disorders complicated by sensorineural hearing loss or neurological manifestations or secondary amyloidosis 7. In the last few years, it became evident that identification of the causative genetic abnormality at the earliest possible stage is crucial for proper HRF management, including rapid application of effective treatments and appropriate genetic counselling.…”

Response to: ‘Autoinflammatory disease damage index (ADDI): a possible newborn also in hidradenitis suppurativa daily practice’ by Damiani et al

“…We thank Dr Damiani et al 1 for their interesting letter about the utility of the autoinflammatory disease damage index (ADDI) in patients with hidradenitis suppurativa (HS), as a response to our recently published article ‘The development of the autoinflammatory disease damage index’ 2. It is important to investigate whether the ADDI is also useful for other autoinflammatory diseases.…”

“…However, we need to consider that the ADDI is developed and will be validated for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency only. The selection of items was based on an intensive literature search and consensus procedure, to make sure all (and only) relevant items for these four diseases were covered 2. HS-specific damage, such as disfiguring scars, will not be measured by the ADDI, although this damage might have an important influence on the patients' daily life 3.…”