{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T06:02:25Z","timestamp":1782626545745,"version":"3.54.5"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T00:00:00Z","timestamp":1335139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disease characterized by the presence of recurrent epistaxis and small characteristic malformations of the peripheral blood vessels near the surface of the skin or mucosal linings. Arteriovenous malformations (AVM) of the lung, liver, and CNS are also known clinical findings. The purpose of this study was to examine quality of life (QoL) in patients with HHT in Norway. Sixty\u2010six affected patients (39 women and 27 men) were included. QoL on overall\u2010, health\u2010related (HR\u2010QoL), and disease\u2010specific levels were measured with Cantril's Ladder (CL), Short Form 36 (SF\u201036), and a Symptom\u2010specific QoL question in HHT patients (SFB\u2010HHT\u2010Q), respectively. Comparisons were made between patients and an age and gender adjusted normative sample from the Norwegian population (N\u2009=\u2009990). Overall, the results reflected that several HHT disease\u2010related variables were associated with reduced QoL on all three levels; overall QoL (CL), HR\u2010QoL (SF36) as well as disease\u2010specific QoL (SFB\u2010HHT\u2010Q), while demographic variables impacted HR\u2010QoL in HHT patients. Compared to the normative sample, all subscales of SF36, but bodily pain, were significantly poorer in the HHT patients. HHT disease variables had the strongest association with QoL compared to demographic variables. The results substantiate that disease severity is associated with poorer QoL in this patients. Pain contributed independently to all levels of QoL. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35309","type":"journal-article","created":{"date-parts":[[2012,4,23]],"date-time":"2012-04-23T21:27:06Z","timestamp":1335216426000},"page":"1269-1278","source":"Crossref","is-referenced-by-count":52,"title":["Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study"],"prefix":"10.1002","volume":"158A","author":[{"given":"Amy 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