How to Cite this Article: Geirdal AØ, Dheyauldeen S, Bachmann-Harildstad G, Heimdal K. 2012. Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study. Am J Med Genet Part A. 158A:1269–1278.
Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study†
Article first published online: 23 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 6, pages 1269–1278, June 2012
How to Cite
Geirdal, A. Ø., Dheyauldeen, S., Bachmann-Harildstad, G. and Heimdal, K. (2012), Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study. Am. J. Med. Genet., 158A: 1269–1278. doi: 10.1002/ajmg.a.35309
- Issue published online: 17 MAY 2012
- Article first published online: 23 APR 2012
- Manuscript Accepted: 25 JAN 2012
- Manuscript Received: 12 SEP 2011
- hereditary hemorrhagic telangiectasia;
- quality of life;
- population based;
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-six affected patients (39 women and 27 men) were included. QoL on overall-, health-related (HR-QoL), and disease-specific levels were measured with Cantril's Ladder (CL), Short Form 36 (SF-36), and a Symptom-specific QoL question in HHT patients (SFB-HHT-Q), respectively. Comparisons were made between patients and an age and gender adjusted normative sample from the Norwegian population (N = 990). Overall, the results reflected that several HHT disease-related variables were associated with reduced QoL on all three levels; overall QoL (CL), HR-QoL (SF36) as well as disease-specific QoL (SFB-HHT-Q), while demographic variables impacted HR-QoL 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. © 2012 Wiley Periodicals, Inc.