Poor interrater reliability of hidradenitis suppurativa phenotypes

Straalen, Kelsey R. van; Verhagen, Tim; Hórvath, Barbara; Ardon, Christine B.; Vossen, Allard R. J. V.; Driessen, R.J.B.; Boer, Jurr; Rondags, Angelique; Prens, Errol P.; Zee, Hessel H. van der

doi:10.1016/j.jaad.2018.02.048

Cited by 20 publications

(25 citation statements)

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“…Of the four distinct phenotype classification schemes in HS, commentary regarding IRR has only be made regarding Canoui‐Poitrine et al . Our results confirm previously published results showing poor IRR for the Canoui‐Poitrine et al .…”

Section: Discussionsupporting

confidence: 89%

“…Our results confirm previously published results showing poor IRR for the Canoui‐Poitrine et al . phenotype classification system for individual phenotyping . Van Straalen et al .…”

Section: Discussionmentioning

confidence: 99%

“…phenotype classification system for individual phenotyping . Van Straalen et al . note that the Canoui‐Poutrine et al .…”

Section: Discussionmentioning

confidence: 99%

“…comedones, nodules, presence of scarring or tunnels), one classification is based purely upon a latent class analysis . All classification schema take into account age, sex and comorbidities of patients, although it is well documented that there is significant overlap between types and no single descriptor is definitive for classification . Valuable genotype–phenotype correlation only exists in the presence of reliable phenotypic descriptors, and the poor inter‐rater reliability (IRR) of some classification systems brings into question the utility of phenotypes in HS …”

Section: Current Phenotype Classifications In Hidradenitis Suppurativmentioning

confidence: 99%

“…10 All classification schema take into account age, sex and comorbidities of patients, although it is well documented that there is significant overlap between types and no single descriptor is definitive for classification. 14,15 Valuable genotype-phenotype correlation only exists in the presence of reliable phenotypic descriptors, and the poor inter-rater reliability (IRR) of some classification systems brings into question the utility of phenotypes in HS. 15 Assessment of the relationship between identified sequence variants in HS and phenotypic characteristics may identify certain mutation types or clinical characteristics that can predict progression of disease or guide early therapeutic intervention.…”

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confidence: 99%

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Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

et al. 2019

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Summary Background Genotype–phenotype correlation measures the correlation between the presence of a physical trait with a group of similar mutations but is dependent on reliable phenotyping. It can provide information on disease pathogenesis, future disease progression, severity or activity. Such indicators would be valuable in hidradenitis suppurativa (HS). Objectives To assess inter‐rater reliability (IRR) of HS clinical phenotypes and perform exploratory genotype–phenotype correlation in cases of HS with identified sequence variants. Methods Linkage disequilibrium between variants was assessed. Genotype–phenotype correlations were explored using Spearman correlation coefficients. IRR was calculated using Cohen's κ. Correlation between phenotype classifications was assessed using the χ2 statistic. Results Forty‐three sequence variants with clinical information were identified. Clinical phenotypes were classified as LC2 (n = 29; 67%), scarring folliculitis (n = 18; 42%), atypical (n = 38; 88%) and nodular (n = 26; 60%). LC1 phenotype was associated with regular (χ2 = 41·289, P < 0·001) and typical (χ2 = 29·013, P < 0·001) phenotypes. Cohen's κ was highest for van der Zee and Jemec (0·815), followed by Martorell‐Calatayud et al. (0·813), Naasan and Affleck (0·774) and Canoui‐Poitrine et al. (0·435) classifications. High linkage disequilibrium was seen between variants of Han Chinese pedigrees. No significant genotype–phenotype correlations were identified. Conclusions These findings may be influenced by selection, publication bias and the assumption that HS is a monogenic disorder. The poor IRR of existing phenotype measures suggests limited utility of existing measures. Further investigations into the correlation of clinical phenotypes with inflammatory biomarkers may aid in prognostic efforts for this disease. What's already known about this topic? Genotype–phenotype correlation can provide information regarding disease pathogenesis and predictions for future disease progression, severity or activity. The identification of such indicators in hidradenitis suppurativa (HS) would be valuable for patients and clinicians alike, given the lack of biomarkers or clinical predictors of disease. What does this study add? Sixty‐five sequence variants across 20 separate genes were identified. There was no significant correlation between phenotype classification in four separate classification schema and gene, mutation type or impact on Notch signalling. Utility of current phenotype measurements are limited. The lack of genotype–phenotype correlation in HS is suggestive that the underlying assumption of inherited HS as a monogenic disorder may need revision.

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Section: Discussionsupporting

confidence: 89%

“…Our results confirm previously published results showing poor IRR for the Canoui‐Poitrine et al . phenotype classification system for individual phenotyping . Van Straalen et al .…”

Section: Discussionmentioning

confidence: 99%

“…phenotype classification system for individual phenotyping . Van Straalen et al . note that the Canoui‐Poutrine et al .…”

Section: Discussionmentioning

confidence: 99%

Section: Current Phenotype Classifications In Hidradenitis Suppurativmentioning

confidence: 99%

mentioning

confidence: 99%

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Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

et al. 2019

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Assessing severity, treatment response, and phenotype in HS

Buechler

Daveluy

2022

Dermatological Reviews

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Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease characterized by recurrent abscesses, nodules, tunnels, and scarring in intertriginous areas. However, disease presentation and phenotype can vary widely, leading to unique challenges in determining disease burden and response to therapy. Over three dozen severity measures have been used at various times to provide static staging and track response to clinical interventions, and there are at least five proposed classification systems for clinical phenotypes, derived by either statistical methods or expert opinion. As yet, no single staging, outcome-measurement, or phenotyping schema has proven to be far superior to the others in clinical practice, and very few studies have attempted to map proposed phenotypes to either outcome or clinical response to therapy. In this review, we discuss proposed phenotype schemas as well as provider-scored, patient-scored, and composite scoring systems that have been proposed for grading HS severity. We include relevant benefits and drawbacks to their routine use, with a focus on the most popular and recently developed systems, in the hope of providing a framework upon which future studies can be built to ensure the best possible care for those suffering from this debilitating disease.

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Cluster analysis identifies six clinical subtypes of hidradenitis suppurativa characterised by distinct comorbidities, inflammatory and metabolic profiles, patient‐reported outcomes and treatment patterns

Jørgensen

Arildsen

Yao

et al. 2022

JEADV Clinical Practice

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Background Sub‐classification of hidradenitis suppurativa (HS) may allow for a better understanding of disease aetiology and disease burden, and eventually permit a more personalised treatment for patients. Objective To identify patient subtypes of HS based on comorbidity patterns and clinical characteristics, and to examine their inflammatory and metabolic blood profiles and associated levels of experienced distress, pain, quality of life, employment status and prescribed treatments. Methods Cluster analysis of clinical data from consecutive, newly referred adult HS patients attending a dermatological hospital department. Results A total of 534 patients (338 women and 196 men) with a mean age of 40.5 years (SD = 13.7) were included; 35.4% had Hurley stage I, 50.4% had Hurley stage II, and 14.8% had Hurley stage III. In total, six disease subtypes were identified: ‘female subtype’ (n = 182, 34.1%), ‘familial subtype’ (n = 144, 27.0%), ‘diabetes subtype’ (n = 107, 20.0%), ‘psychiatric disease subtype’ (n = 49, 9.2%), ‘Crohn's disease subtype’ (n = 29, 5.4%) and ‘asthma subtype’ (n = 23, 4.3%). Patients with ‘Crohn's disease subtype’ and ‘diabetes subtype’ had highest levels of systemic inflammation (C‐reactive protein, erythrocyte sedimentation rate, leucocytes and neutrophils), blood glucose and lipids (triglycerides), p < 0.001. The highest boil‐associated pain score, p < 0.001, overall disease‐related distress, p = 0.008 and lowest quality of life, p = 0.015, was reported by patients with ‘familial subtype’, whereas highest rates of unemployment were observed among patients with ‘diabetes subtype’ and ‘psychiatric disease subtype’, p < 0.001. Treatment patterns differed significantly between the subtypes, with biologics being most often prescribed to patients with ‘Crohn's disease subtype’ (21.1%), p < 0.001. Conclusion This study identified six subtypes of HS based on comorbidity patterns, clinical characteristics, blood profiles, patient‐reported outcomes and treatment patters, supporting the concept of heterogeneity within HS.

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Poor interrater reliability of hidradenitis suppurativa phenotypes

Cited by 20 publications

References 5 publications

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

Inter‐rater reliability of phenotypes and exploratory genotype–phenotype analysis in inherited hidradenitis suppurativa

Assessing severity, treatment response, and phenotype in HS

Cluster analysis identifies six clinical subtypes of hidradenitis suppurativa characterised by distinct comorbidities, inflammatory and metabolic profiles, patient‐reported outcomes and treatment patterns

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