title: Health-related quality of life in adult dermatitis patients stratified by filaggrin genotype.
abstract: BACKGROUND
  Information concerning health-related quality of life (HRQoL) and comorbidities of adult dermatitis patients stratified by loss-of-function mutations in the filaggrin gene (FLG) is limited.
  
  
  OBJECTIVE
  To investigate HRQoL, skin symptoms and comorbidities in adult FLG mutation carriers.
  
  
  METHODS
  This cross-sectional study included patients diagnosed with atopic dermatitis and/or hand eczema (n = 520). Patients completed questionnaires about dermatitis, skin symptoms, HRQoL, and comorbidities, including actinic keratosis, and atopic and mental disorders.
  
  
  RESULTS
  FLG mutations (R501X, 2282del4, and R2447X) were identified in 16.9% of patients, and were significantly associated not only with atopic dermatitis, but also independently with skin fissures on the fingers and heels, and self-reported actinic keratosis. Although FLG mutations were significantly associated with reduced HRQoL, as measured by use of the Dermatology Life Quality Index (DLQI), no association with self-reported anxiety or depression was identified. Notably, the highest median DLQI score, reflecting greater impairment, was reported by patients with both FLG mutations and atopic dermatitis. Overall, 19.7% of patients with both atopic dermatitis and FLG mutations reported a 'large or extremely large' impact on their lives; this represents twice the prevalence seen in patients with atopic dermatitis and wild-type FLG (9.6%).
  
  
  CONCLUSIONS
  Patients with both atopic dermatitis and common FLG mutations are more frequently affected by reduced HRQoL.
authors.affiliation: Department of Dermatology and Allergy, The National Allergy Research Centre, Copenhagen University Hospital Herlev-Gentofte, 2900, Hellerup, Denmark.
authors.forename: Nina G
authors.initials: NG
authors.lastname: Heede
authors.affiliation: Department of Dermatology and Allergy, The National Allergy Research Centre, Copenhagen University Hospital Herlev-Gentofte, 2900, Hellerup, Denmark.
authors.forename: Jacob P
authors.initials: JP
authors.lastname: Thyssen
authors.affiliation: Research Centre for Prevention and Health, the Capital Region of Denmark, 2600, Copenhagen, Denmark.
authors.forename: Betina H
authors.initials: BH
authors.lastname: Thuesen
authors.affiliation: Research Centre for Prevention and Health, the Capital Region of Denmark, 2600, Copenhagen, Denmark.|Department of Clinical Experimental Research, Rigshospitalet, Glostrup, Denmark.|Faculty of Health and Medical Sciences, Department of Clinical Medicine, University of Copenhagen, 2200, Copenhagen, Denmark.
authors.forename: Allan
authors.initials: A
authors.lastname: Linneberg
authors.affiliation: Department of Clinical Biochemistry, Copenhagen University Hospital Herlev-Gentofte, 2900, Hellerup, Denmark.
authors.forename: Pal B
authors.initials: PB
authors.lastname: Szecsi
authors.affiliation: Department of Clinical Biochemistry, Copenhagen University Hospital Herlev-Gentofte, 2900, Hellerup, Denmark.
authors.forename: Steen
authors.initials: S
authors.lastname: Stender
authors.affiliation: Department of Dermatology and Allergy, The National Allergy Research Centre, Copenhagen University Hospital Herlev-Gentofte, 2900, Hellerup, Denmark.
authors.forename: Jeanne D
authors.initials: JD
authors.lastname: Johansen
mesh_terms: D000328:Adult; D003430:Cross-Sectional Studies; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000523:psychology; D017453:Dermatitis, Irritant / Q000235:genetics* / Q000523:psychology; D009783:Dermatitis, Occupational / Q000235:genetics* / Q000523:psychology; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation; D016273:Occupational Exposure / Q000706:statistics & numerical data*; D010328:Patch Tests; D011788:Quality of Life
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins
keywords: actinic keratosis; atopic dermatitis; epidemiology; filaggrin mutations; hand eczema; health-related quality of life