title: Kidney function as an underestimated factor for reduced health related quality of life in patients with Fabry disease.
abstract: BACKGROUND
  Impairments of health related quality of life (HRQoL) are frequently observed in Fabry disease (FD) and are known to be related to neuropathic pain and cardiovascular events. This study aimed to explore the role of chronic kidney disease (CKD) in a large cohort of patients with FD.
  
  
  METHODS
  In 96 patients (53% female; age 40±12 yrs) with genetically proven FD, HRQoL was assessed by the Medical Outcomes Study (SF-36) questionnaire. All patients were naïve to enzyme replacement therapy. Three categories for kidney dysfunction were chosen, eGFR≥/<60 ml/min/1.73 m2 or need of renal replacement therapy (RRT). Minor (e.g. arrhythmia, angina pectoris, etc.) and major (e.g. myocardial infarction, coronary artery bypass, stroke or implantable cardioverter-defibrillator) vascular events as well as pain and pain therapy were considered in linear regression analyses with the dimensions of HRQoL.
  
  
  RESULTS
  Ten patients (10%) had impaired kidney function and a further nine were on RRT (9.4%). Kidney function and pain emerged as the main factors associated with lower scores on the SF 36, in particular on physical components (PCS beta-coefficients for CKD -6.2, for RRT -11.8, for pain -9.1, p<0.05, respectively), while controlling for gender, vascular event and pain-therapy. Relationships were found for mental aspects of HRQoL. Age and history of vascular events were not related to HRQoL.
  
  
  CONCLUSIONS
  Cardiovascular events and pain are important factors related to HRQoL, social functioning and depression. Our study highlights impaired chronic kidney disease, in particular after initiation of RRT, as a strong determinant of reduced HRQoL in FD.
authors.forename: Martin
authors.initials: M
authors.lastname: Wagner
authors.affiliation: Comprehensive Heart Failure Center, University of Würzburg, Oberdürrbacherstr, 6, Würzburg 97080, Germany. johannes.kraemer@stud-mail.uni-wuerzburg.de.
authors.forename: Johannes
authors.initials: J
authors.lastname: Krämer
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Blohm
authors.forename: Dorothee
authors.initials: D
authors.lastname: Vergho
authors.forename: Frank
authors.initials: F
authors.lastname: Weidemann
authors.forename: Frank
authors.initials: F
authors.lastname: Breunig
authors.forename: Christoph
authors.initials: C
authors.lastname: Wanner
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000150:complications; D003863:Depression / Q000209:etiology; D018450:Disease Progression; D000795:Fabry Disease / Q000150:complications* / Q000523:psychology; D005260:Female; D005919:Glomerular Filtration Rate; D006801:Humans; D008297:Male; D008875:Middle Aged; D009437:Neuralgia / Q000150:complications; D011788:Quality of Life; D051436:Renal Insufficiency, Chronic / Q000150:complications* / Q000628:therapy; D017582:Renal Replacement Therapy; D012307:Risk Factors; D011795:Surveys and Questionnaires; D055815:Young Adult