Quality of life in patients with hereditary hemorrhagic telangiectasia in Norway: A population based study

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.

Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis

“…However, this finding is consistent with previous studies of patients with HHT in Norway and Germany. First, 58 % reported that HHT symptoms negatively impacted their QoL (Geirdal et al 2012). Second, this study confirmed work as the primary area of everyday life affected by HHT (Geirdal et al 2012).…”

“…First, 58 % reported that HHT symptoms negatively impacted their QoL (Geirdal et al 2012). Second, this study confirmed work as the primary area of everyday life affected by HHT (Geirdal et al 2012). A subset of German patients with HHT reported that experiencing nosebleeds led to a career change (Geisthoff et al 2007).…”

“…Some research assessed health-related quality of life (QoL) quantitatively among individuals with HHT with surveys such as the 36-Item Short Form Health Survey (SF-36) (Geirdal et al 2012;Geisthoff et al 2007). Compared to the general population in various countries, patients with HHT scored significantly lower on all domains of the SF-36 except for bodily pain (Geisthoff et al 2007; Lennox et al 2005;Pasculli et al 2004;Geirdal et al 2012). Within the HHT patient population, patients with severe epistaxis scored significantly lower than patients with mild epistaxis on all physical and mental dimensions of the SF-36 (Merlo et al 2014).…”

“…Increasing age and increasing number of years living with HHT are two other factors that have been shown to correlate with lower scores on one or more SF-36 scales for physical health and the mental health component summary (Geisthoff et al 2007;Pasculli et al 2004). Using a symptom-specific HHT questionnaire developed by Slotosch et al (2006), 58 % of patients with HHT reported that the condition impacted their QoL (Geirdal et al 2012). Participants reported that recurrent nosebleeds negatively affected their work and other social activities, and pain, fatigue, and time spent on nose care corresponded with decreased QoL (Geirdal et al 2012).…”

“…Using a symptom-specific HHT questionnaire developed by Slotosch et al (2006), 58 % of patients with HHT reported that the condition impacted their QoL (Geirdal et al 2012). Participants reported that recurrent nosebleeds negatively affected their work and other social activities, and pain, fatigue, and time spent on nose care corresponded with decreased QoL (Geirdal et al 2012). In response to an open-ended query, nosebleeds were reported by patients with HHT as the major reason for restricted participation in athletics, change in occupation, and psychological strain (Geisthoff et al 2007).…”