In silico validation of the Autoinflammatory Disease Damage Index

Haar, Nienke Ter; Delft, Amber Laetitia Justine Van; Annink, Kim V.; Stel, Henk F. van; Al‐Mayouf, Sulaiman M.; Amaryan, Gayane; Antón, Jordi; Barron, Karyl S.; Benseler, Susanne M.; Brogan, Paul A.; Cantarini, Luca; Cattalini, Marco; Cochino, Alexis Virgil; Benedetti, Fabrizio; Dedeoğlu, Fatma; Jesús, Adriana Almeida de; Demirkaya, Erkan; Doležalová, Pavla; Durrant, Karen L; Fabio, Giovanna; Gallizzi, Romina; Goldbach‐Mansky, Raphaela; Hachulla, É.; Hentgen, Véronique; Herlin, Troels; Hofer, Michaël; Hoffman, Hal M.; Insalaco, Antonella; Jansson, Annette; Kallinich, Tilmann; Koné‐Paut, Isabelle; Kozlova, A.; Kuemmerle‐Deschner, Jasmin; Lachmann, HJ; Laxer, Ronald M.; Martini, Alberto; Nielsen, Susan; Nikishina, Irina; Ombrello, Amanda K.; Özen, Seza; Papadopoulou‐Alataki, Efimia; Quartier, Pierre; Rigante, Donato; Russo, Ricardo; Simon, Anna; Trachana, Maria; Uziel, Yosef; Ravelli, Angelo; Schulert, Grant S.; Gattorno, Marco; Frenkel, Joost

doi:10.1136/annrheumdis-2018-213725

Cited by 28 publications

(13 citation statements)

References 22 publications

(23 reference statements)

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“…During dermatological assessment, besides demographics, drug-history and comorbidities, were collected HS clinical phenotypes[24], static score as Hurley[25], dynamic score as international HS 4 (iHS4)[26], the Autoinflammatory Disease Damage Index (ADDI)[27,28] and Dermatology Life Quality Index (DLQI)[29].…”

Section: Methodsmentioning

confidence: 99%

Nonalcoholic fatty liver disease prevalence in an Italian cohort of patients with hidradenitis suppurativa: A multi-center retrospective analysis

Damiani

Leone

Fajgenbaum

et al. 2019

WJH

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BACKGROUND Nonalcoholic fatty liver disease (NAFLD) includes two distinct conditions, with different histologic features and prognosis: non-alcoholic fatty liver (NAFL) and non-alcoholic steatohepatitis (NASH). Furthermore, NASH is the more aggressive necro-inflammatory form, which may accumulate fibrosis and result in End stage liver disease (ESLD). NAFLD is also linked to systemic inflammatory conditions such as psoriasis. NAFLD is currently the most common cause of ESLD in Western countries, becoming a serious public health concern. Hidradenitis suppurativa (HS) is a systemic inflammatory/autoinflammatory disease of the terminal follicular epithelium of the apocrine gland with a prevalence of 0.05% to 4.10%. Due to its systemic inflammatory behavior several comorbidities were recently associated, however liver ones were scarcely assessed. AIM To evaluate the prevalence and characteristics of NASH/NAFL in HS patients. METHODS This retrospective study is a sub-analysis of a larger study carried out in 4 Italian dermatological centers. In this cohort, there were 83 patients: 51 patients with HS only, 20 patients with HS/NAFL and 12 with HS/NASH. RESULTS Inflammatory comorbidities were present in 3.9% of HS only patients, 25% of HS/NAFL patients and 58.3% of HS/NASH patients ( P < 0.001). Similarly, mean Autoinflammatory Disease Damage Index (ADDI) was significantly higher among patients with HS/NASH (5.3 ± 2.2, P < 0.001) compared to patients with HS/NAFL or HS only (2.8 ± 1.6 and 2.6 ± 1.4 respectively). Furthermore, ADDI correlates with IHS4 in HS, HS/NAFL and HS/NASH. Diabetic patients have higher Hurley score than not diabetic ones. Ultrasound examination was significantly different in the three groups. CONCLUSION HS patients displayed a high prevalence of NASH/NAFLD and ultrasound examination should be particularly addressed to patients that display high ADDI scores.

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Section: Methodsmentioning

confidence: 99%

Nonalcoholic fatty liver disease prevalence in an Italian cohort of patients with hidradenitis suppurativa: A multi-center retrospective analysis

Damiani

Leone

Fajgenbaum

et al. 2019

WJH

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“…The Autoinflammatory Disease Damage Index (ADDI) is a reliable instrument to assess disease-related organ damage in FMF, CAPS, TRAPS and HIDS/MKD (114). ADDI consists of 18 items grouped in eight categories of reproductive, renal/amyloidosis, developmental, serosal, neurological, auditory, ocular, and musculoskeletal damage (114,115). Damage is defined as persistent or irreversible change in structure or function present for at least 6 months (114,115).…”

Section: Monitoring Of Aid Activity and Damagementioning

confidence: 99%

“…ADDI consists of 18 items grouped in eight categories of reproductive, renal/amyloidosis, developmental, serosal, neurological, auditory, ocular, and musculoskeletal damage (114,115). Damage is defined as persistent or irreversible change in structure or function present for at least 6 months (114,115). The ADDI can be used to monitor structural damage in individual patients, and allows outcome analysis and comparison of damage accrual in clinical trials (114).…”

Section: Monitoring Of Aid Activity and Damagementioning

confidence: 99%

Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood

2021

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Monogenic Interleukin 1 (IL-1) mediated autoinflammatory diseases (AID) are rare, often severe illnesses of the innate immune system associated with constitutively increased secretion of pro-inflammatory cytokines. Clinical characteristics include recurrent fevers, inflammation of joints, skin, and serous membranes. CNS and eye inflammation can be seen. Characteristically, clinical symptoms are coupled with elevated inflammatory markers, such as C-reactive protein (CRP) and serum amyloid A (SAA). Typically, AID affect infants and children, but late-onset and atypical phenotypes are described. An in-depth understanding of autoinflammatory pathways and progress in molecular genetics has expanded the spectrum of AID. Increasing numbers of genetic variants with undetermined pathogenicity, somatic mosaicisms and phenotype variability make the diagnosis of AID challenging. AID should be diagnosed as early as possible to prevent organ damage. The diagnostic approach includes patient/family history, ethnicity, physical examination, specific functional testing and inflammatory markers (SAA, CRP) during, and in between flares. Genetic testing should be performed, when an AID is suspected. The selection of genetic tests is guided by clinical findings. Targeted and rapid treatment is crucial to reduce morbidity, mortality and psychosocial burden after an AID diagnosis. Management includes effective treat-to-target therapy and standardized, partnered monitoring of disease activity (e.g., AIDAI), organ damage (e.g., ADDI), patient/physician global assessment and health related quality of life. Optimal AID care in childhood mandates an interdisciplinary team approach. This review will summarize the current evidence of diagnosing and managing children with common monogenic IL-1 mediated AID.

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“…All IL-1 inhibitors are effective for controlling attacks and inflammatory activity in patients with refractory FMF and even in those complicated with AA amyloidosis, reducing or stabilizing the amount of proteinuria and preserving renal function in short-term follow-up studies. Structured scores rating FMF activity or severity by the use of attack parameters (site, duration and frequency) have been used to classify and settle disease diversity, while response to treatment has been evaluated by patients’/parents’/physicians’ global assessment of disease severity, laboratory parameters performed every 6 months, and different scores related to symptoms and organ damages 97–102…”

Section: Ancient and Modern Treatmentsmentioning

confidence: 99%

Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans

Manna

Rigante²

2019

Mediterr J Hematol Infect Dis

Self Cite

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Recurrent self-limited attacks of fever and short-lived inflammation in the serosal membranes, joints and skin are the leading features of familial Mediterranean fever (FMF), the most common autoinflammatory disorder in the world, transmitted as autosomal recessive trait caused by MEFV gene mutations. Their consequence is an abnormal function of pyrin, a natural repressor of inflammation, apoptosis and release of cytokines. FMF-related mutant pyrins are hypophosphorylated following RhoA GTPases’ impaired activity and show a propensity to relapsing uncontrolled systemic inflammation with inappropriate response to inflammatory stimuli and leukocyte spread to serosal membranes, joints or skin. Typical FMF phenotype 1 consists of brief episodes of inflammation and serositis, synovitis, and/or erysipelas-like eruption, whereas phenotype 2 is defined by reactive amyloid-associated (AA) amyloidosis, which is the most ominous complication of FMF, in otherwise asymptomatic individuals. Furthermore, FMF phenotype 3 is referred to the presence of two MEFV mutations with neither clinical signs of FMF, nor AA amyloidosis. The influence of epigenetic and/or environmental factors can contribute to the variable penetrance and phenotypic heterogeneity of FMF. Colchicine, a tricyclic alkaloid with anti-microtubule and anti-inflammatory properties, is the bedrock of FMF management: daily administration of colchicine prevents the recurrence of FMF attacks and the development of secondary AA amyloidosis. Many recent studies have also shown that anti-interleukin-1 treatment is actually the best therapeutic option for FMF patients nonresponsive or intolerant to colchicine. This review aims to catch readers’ attention on the clinical diversity of phenotypes, differential diagnosis, and management of patients with FMF.

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In silico validation of the Autoinflammatory Disease Damage Index

Abstract: The ADDI is a reliable and valid instrument to quantify damage in individual patients and can be used to compare disease outcomes in clinical studies.

Cited by 28 publications

References 22 publications

Nonalcoholic fatty liver disease prevalence in an Italian cohort of patients with hidradenitis suppurativa: A multi-center retrospective analysis

Nonalcoholic fatty liver disease prevalence in an Italian cohort of patients with hidradenitis suppurativa: A multi-center retrospective analysis

Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood

Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans

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