Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study
- 23 April 2012
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 158A (6), 1269-1278
- https://doi.org/10.1002/ajmg.a.35309
Abstract
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.Keywords
This publication has 25 references indexed in Scilit:
- The Natural History of Epistaxis in Patients with Hereditary Hemorrhagic Telangiectasia in the Norwegian population: A Cross-sectional StudyAmerican Journal of Rhinology and Allergy, 2011
- Quality of life in rare genetic conditions: A systematic review of the literatureAmerican Journal of Medical Genetics Part A, 2010
- Impact of genotype and mutation type on health-related quality of life in patients with hereditary hemorrhagic telangiectasiaActa Oto-Laryngologica, 2009
- Adaptation to living with a genetic condition or risk: a mini‐reviewClinical Genetics, 2008
- Rezidivierende Epistaxis bei hereditärer hämorrhagischer TeleangiektasieDeutsche Medizinische Wochenschrift (1946), 2006
- Quality of life in atrial fibrillation: The Atrial Fibrillation Follow-up Investigation of Rhythm Management (AFFIRM) studyAmerican Heart Journal, 2005
- Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of JapanHuman Mutation, 2002
- SF-36 Health Survey UpdateSpine, 2000
- Tests of Data Quality, Scaling Assumptions, and Reliability of the SF-36 in Eleven CountriesJournal of Clinical Epidemiology, 1998
- A 12-Item Short-Form Health SurveyMedical Care, 1996