Development and performance of a hereditary hemorrhagic telangiectasia-specific quality-of-life instrument.

Hereditary hemorrhagic telangiectasia (HHT) is characterized by arteriovenous malformations and telangiectasia, with primary clinical manifestations of epistaxis and gastrointestinal bleeding and resultant anemia. HHT negatively affects health-related quality of life (HR-QoL); however, existing tools to measure HR-QoL are not HHT specific. Our objective was to develop an HHT-specific HR-QoL (HHT-QoL) instrument and evaluate its performance in a cross-sectional survey of individuals with HHT. Four HHT-specific questions were developed to evaluate the impact of HHT on productivity and social and personal interactions. An anonymous e-mail survey was conducted through Cure HHT. Participants also indicated their perceived HHT severity and completed 3 Patient-Reported Outcomes Measurement Information System (PROMIS) questionnaires: Discretionary Social Activities, Social Roles, and Emotional Distress. Complete data were available for 290 participants who self-identified their HHT severity as mild (29%), moderate (46%), or severe (25%). The HHT-QoL scale was reliable (Cronbach's-α, 0.83). Principal components analysis indicated the instrument was unidimensional. Participants had low levels of QoL with their ability to participate in discretionary social activities (PROMIS mean 36.4 [standard deviation 14.3]) and perform in social roles (41.5 [17.2]), and the presence of a high level of emotional distress (64.8 [24.2]). The HHT-QoL score correlated negatively with PROMIS Discretionary Social Activities (r = -0.65) and Social Roles (r = -0.68) and positively correlated with PROMIS Emotional Distress (r = 0.51). In conclusion, the 4-item HHT-QoL instrument provides valuable insight and may be a useful addition to future clinical research in HHT.

Mental health and counseling intervention for hereditary hemorrhagic telangiectasia (HHT) during the COVID-19 pandemic: perspectives from Italy.

OBJECTIVE: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of fibrovascular tissue, transmitted as an autosomal dominant trait. This rare disease can involve one or more organs and clinical manifestations interest several medical specialties. MATERIALS AND METHODS: A review of recent literature and our clinical experience shows that COVID-19 pandemic greatly influences the autonomy and psychic sphere of patients with HHT, causing them further distress. RESULTS: Often patients affected by HHT experience a sense of loneliness due to the rarity of this pathology and COVID-19 pandemic adds a burden for them and their caregivers who have to face emotional experiences that interfere with personal, social and working functioning. CONCLUSIONS: Multidisciplinary approach and web-mediated counseling intervention could offer a valid and personalized support for patients affected by HHT and their caregivers during quarantine due to COVID-19 pandemic.

Hereditary hemorrhagic telangiectasia and health-related quality of life: a qualitative investigation.

OBJECTIVE: The purpose of the study was to arrive at an accurate description of health-related quality of life of hereditary hemorrhagic telangiectasia patients. METHODS: Thirteen semi-structured interviews were conducted in patients with hereditary hemorrhagic telangiectasia. RESULTS: Qualitative grounded theory analyses were performed using the participants' transcripts and revealed the following six categories: Impact of physical symptoms on daily life, Quality of family and social life, Emotional and psychological outcomes related to the disease, Knowledge having a severe disease and coping strategies to manage such disease, Recognition of the disease by professional colleagues and superiors, and Knowledge and understanding from health professionals in medical care. CONCLUSION: The definition of quality of life that emerged from the participants' transcripts was essentially related to health. Individuals with hereditary hemorrhagic telangiectasia mainly focused on the physical, psychological and emotional impacts of the symptoms and their consequences on professional life and social activities. Family relationships were also highlighted in the participants' transcripts. As such, HHT patients used coping strategies to manage their disease. Finally, a particularly salient issue referred to the lack of knowledge concerning the rare nature of this disease and the ensuing inherent sense of misunderstanding.

Intranasal bevacizumab injections improve quality of life in HHT patients.

BACKGROUND: Epistaxis is the most common symptom in patients with hereditary hemorrhagic telangiectasia (HHT), with the greatest negative impact on quality of life (QoL). Repeated intranasal submucosal bevacizumab injections (RISBI) is a relatively new treatment option for moderate or severe grades of epistaxis in HHT. However, the effect of RISBI on QoL is not fully evaluated. STUDY DESIGN: Prospective, non-comparative study. MATERIALS AND METHODS: Patients treated by RISBI for HHT-associated epistaxis between June 2011 and August 2013 were prospectively invited to the present study. The end of follow-up was October 2013. The patients were requested to answer QoL questionnaires before the first treatment, and 6-8 weeks after the last treatment. Three levels of QoL were assessed: Overall QoL using Cantril's Self-Anchoring Ladder; Health-related QoL using Short Form 36 (SF-36), and Disease-specific QoL. Psychological distress was measured with the Hospital Anxiety and Depression scale (HADS). RESULTS: Thirty-three patients were treated with RISBI during the period referred to above. Twenty-three patients completed the QoL questionnaires. The average number of treatments per patient was 2.15 ± 1.3 (Range: 1-5). The mean overall QoL improved from 6.47 ± 1.9 to 7.26 ± 1.6 (P < .05). Several dimensions measured by SF-36 were significantly improved with a medium to strong effect size. HADS demonstrated a significant decrease in psychological distress after the last treatment. CONCLUSION: HHT patients treated by RISBI improved in several aspects of quality of life, and psychological distress decreased. RISBI was an effective treatment option for moderate and severe grades of HHT-associated epistaxis. LEVEL OF EVIDENCE: 4 (case series). Laryngoscope, 130:E284-E288, 2020.

Living with Hereditary Haemorrhagic Telangiectasia: stigma, coping with unpredictable symptoms, and self-advocacy.

Objective: Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic condition causing frequent nose bleeds, skin lesions (telangiectasia) and arteriovenous malformations. Approximately, 50% of people experience life-threatening HHT symptoms including haemorrhages in the brain, lungs and liver. This study aimed to gain a qualitative understanding of the psychosocial impact of HHT over time. Design: Using a phenomenological framework, a rigorous narrative analysis was performed on 20 semi-structured interviews with individuals with HHT aged 20s-60s. Main outcome measures: Qualitative themes explaining life experiences prior to and following a clinical diagnosis of HHT. Results: Narratives highlighted four psychosocial themes: (i) the psychological impact of visible symptoms was significant and related to experiences of social stigma, (ii) individuals struggled to identify triggers of symptoms in order to reduce unpredictability, (iii) an illness identity was rejected by minimising HHT when talking about the present self, and by positive reframing as 'lucky' and (iv) self-advocacy was necessitated due to lack of expert coordinated care. Conclusion: HHT has a demanding impact on social, physical and psychological well-being. These findings have significant implications for health care, as narratives about interactions with health professionals often used the terms 'frustrating' and 'not being heard'.

Intravenous Bevacizumab for Refractory Hereditary Hemorrhagic Telangiectasia-Related Epistaxis and Gastrointestinal Bleeding.

OBJECTIVE: To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). PATIENTS AND METHODS: All patients treated with intravenous bevacizumab for severe hereditary hemorrhagic telangiectasia-related bleeding from June 1, 2013, through January 31, 2017, were included in this report. Severity of epistaxis (determined using the Epistaxis Severity Score questionnaire); hemoglobin, iron, and ferritin levels; and quality of life data were collected serially in all patients. RESULTS: Intravenous bevacizumab was administered to 34 patients using a standardized treatment protocol. Anemia was primarily related to severe epistaxis (n=15, 44%), severe gastrointestinal bleeding (n=4, 12%), or both (n=15, 44%), with a median baseline hemoglobin level of 9.1 g/dL (range, 8.3-10.5 gm/dL; to convert to mmol/L, multiply by 0.62). Red blood cell (RBC) transfusions had been administered to 28 patients (82%). Of these, 16 patients (47%) were RBC transfusion dependent and had received a median of 75 RBC transfusions (range, 4->500 RBC units) before bevacizumab initiation. The median length of follow-up was 17.6 months from the beginning of bevacizumab treatment (range, 3-42.5 months). There was a significant reduction in epistaxis severity scores (P<.001) and RBC transfusion requirements (P=.007) after completion of the initial bevacizumab treatment cycle. New-onset or worsened hypertension was noted in 4 patients, with 1 patient experiencing hypertensive urgency with a temporary decline in renal function. CONCLUSION: Intravenous bevacizumab is an effective treatment option for patients with severe anemia related to epistaxis and/or gastrointestinal bleeding. Further studies are needed to establish a dose-response relationship as well as clinical, genetic, and biomarker predictors of response.

Depression and post-traumatic stress disorder in individuals with hereditary hemorrhagic telangiectasia: A cross-sectional survey.

INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. METHODS: A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT. Associations with clinical and demographic variables with depression and PTSD were evaluated in a logistic regression model. RESULTS: A total of 222 individuals responded to the survey. Of these, 185 completed either the BDI II or PCL-5 and were included in the analysis. Median age was 54years and 142 (76.8%) were female. An existing diagnosis of depression, anxiety disorder and PTSD was present in 81 (43.8%), 59 (31.9%) and 16(8.6%) respondents, respectively. BDI-II scores>13 indicating at least mild depressive symptoms were present in 142 (88.7%) patients and 52 (28.1%) patients had a positive screen for PTSD (PCL-5 score≥38). On multivariable analysis, depression [OR 2.17 (95% CI 1.045-4.489), p=0.038], anxiety disorder [OR 2.232 (95% CI 1.066-4.676), p=0.033], and being unemployed [OR 2.234 (95% CI 1.46-4.714), p=0.019) were associated with PTSD. CONCLUSION: We report a high prevalence of depressive and PTSD symptoms in individuals with HHT. While selection bias may lead to overestimation of prevalence in this study, our results are concerning and clinicians should remain vigilant for signs of psychological distress and consider screening for these disorders.

7-day weighed food diaries suggest patients with hereditary hemorrhagic telangiectasia may spontaneously modify their diet to avoid nosebleed precipitants.

Hereditary hemorrhagic telangiectasia (HHT) poses substantial burdens due to nosebleeds and iron deficiency resulting from recurrent hemorrhagic iron losses. Recent studies by our group found surprising links between HHT nosebleeds and certain food groups. In this letter, we report 7-day weighed food diary assessments of an unselected group of 25 UK patients with HHT whose nosebleeds ranged from mild to severe (median epistaxis severity score 4.66, range 0.89- 9.11). The diaries provide evidence that food items most commonly reported to provoke nosebleeds were ingested by fewer HHT patients, compared to food items less commonly reported to provoke nosebleeds (chi-squared p <0.001).

Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).

BACKGROUND: There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom. PURPOSE: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population. DESIGN AND METHODS: Between January 1st 2005 and December 31st 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). The numerical social index value was also determined and the subjective effect of the nasal epistaxis on their quality of life was estimated classified as mild, moderate or severe. RESULTS: Patients with HHT had greater problems than the general population in the five dimensions of the EuroQol 5D-3L, particularly considering pain/discomfort and anxiety/depression. In the VAS and the social index value, patients with HHT also scored lower than the general population, particularly older patients, males, and patients with HHT2. They also had values similar to those of populations with chronic illnesses. The subjective perception of the severity of epistaxis correlated strongly with the VAS and social index values. CONCLUSIONS: The quality of life of patients with HHT, estimated using the EuroQol 5D-3L scale, is affected across all dimensions. The scores are similar to those seen in cases of other chronic diseases. Older patients, males and the carriers of the ACVRL1 mutation generally have worse scores on these scales. The VAS and the social index value are index that correlate well with the severity of the clinical symptoms associated mainly with epistaxis.

Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America.

PURPOSE: This study aimed to identify factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT). METHODS: Participants with a self-reported diagnosis of HHT were recruited from the HHT Foundation International, Inc.; the "HHT Awareness" Facebook group; and six HHT clinics. A cross-sectional mixed methods survey was administered to investigate the relationships among the Health Belief model constructs, the domains of illness representations, and HHT-specific screening behaviors consistent with recommended guidelines. RESULTS: A total of 320 participants reported rates of cerebral arteriovenous malformation (AVM) screenings, pulmonary AVM screenings, and HHT annual checkups that were 82.0, 67.1, and 56.5%, respectively. Logistical regression analysis showed that perceived barriers (ß = -0.114, P < 0.001), perceived susceptibility (ß = 0.117, P < 0.05), treatment control (ß = 0.078, P < 0.05), and emotional representations (ß = 0.067, P < 0.05) were significant predictors of HHT screening. Open-ended responses revealed perceived barriers to screening, including a lack of health-care providers (HCPs) familiar with and/or knowledgeable about HHT. CONCLUSION: Our results reveal suboptimal screening rates among adults with HHT and identify several factors influencing these behaviors. We suggest that there is a need for increased provider education regarding HHT as well as approaches that providers can use to improve screening adherence.Genet Med advance online publication 13 October 2016.

The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.

The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset. Family and personal perceptions of the disease influenced not only the delay in diagnosis but also the emotional and behavioral reactions of patients following a genetic diagnosis.

The effects of epistaxis on health-related quality of life in patients with hereditary hemorrhagic telangiectasia.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease mainly characterized by epistaxis in more than 96% of patients. Recently, a validated questionnaire known as the HHT Epistaxis Severity Score (ESS) was developed. However, little is known about the relationship between epistaxis and quality of life. We hypothesize that epistaxis severity is a major factor predicting health-related quality of life (HR-QoL) in HHT patients. METHODS: This is a cross-sectional study. The ESS questionnaire and Medical Outcomes Study 36-item short form (SF-36) were administered to subjects through an Internet survey. All participants had a definitive diagnosis of HHT through Curaçao criteria or genetic testing. Demographic information, genetics, and extensive histories were also collected. Descriptive analyses were performed with calculations of means and standard deviations (SDs) for continuous variables and proportions for categorical variables. Linear regressions were then performed to assess the association between HR-QoL and ESS. RESULTS: A total of 604 subjects participated between April and August 2008. All patients reported epistaxis, 285 (47.2%) had telangiectasias, and 545 (90.2%) had a family history of HHT; 167 (27.6%) patients had mild epistaxis (ESS <4), 285 (47.2%) reported moderate epistaxis (≥4 ESS <7), and 152 (25.2%) reported severe epistaxis (ESS ≥7). Patients with severe epistaxis had lower scores for both the Physical Component Summary (PCS) and the Mental Component Summary (MCS) of HR-QoL when compared to those with mild epistaxis (p < 0.001, p < 0.001). CONCLUSION: The ESS is a major determinant of HR-QoL and should be considered as a measurement of treatment efficacy in HHT-related epistaxis.

Impact of pulmonary arteriovenous malformations on respiratory-related quality of life in patients with hereditary haemorrhagic telangiectasia.

Fifteen to fifty percent of patients with hereditary haemorrhagic telangiectasia have pulmonary arteriovenous malformations. The objective of this study was to measure the effect of the presence of pulmonary arteriovenous malformations and of their embolisation on respiratory-related quality of life (QoL). We prospectively recruited patients with a diagnosis of hereditary haemorrhagic telangiectasia based on the Curaçao criteria and/or the identification of a pathogenic mutation. Respiratory-related quality of life was measured using the Saint George's Respiratory Questionnaire (SGRQ). Patients who underwent embolisation of pulmonary arteriovenous malformations completed the questionnaire before and 6-12 mo after the procedure. The 56 participants were divided into three groups: no pulmonary arteriovenous malformation (group A, n = 10), small pulmonary arteriovenous malformations not accessible to embolotherapy (group B, n = 19), and large pulmonary arteriovenous malformations accessible to embolotherapy (group C, n = 27). The SGRQ score was significantly higher in group C compared to the other groups, indicating a worse respiratory-specific QoL. There was no significant difference between groups A and B. Among the 17 patients who underwent an embolisation, the SGRQ score decreased significantly after the procedure, to a value similar to that in patients without pulmonary arteriovenous malformation. Our results indicate that the presence of large but not small pulmonary arteriovenous malformations negatively affects the respiratory-related quality of life and that embolisation of pulmonary arteriovenous malformations normalizes the respiratory-related quality of life.

Living with hereditary haemorrhagic telangiectasia: coping and psychological distress - a cross-sectional study.

PURPOSE: The purpose of this study was to examine the relationship between coping strategies measured by Coping Orientation to Problems Experienced Scale (COPE) and psychological distress measured by Hospital Anxiety and Depression Scale (HADS) and Becks Hopelessness Scale (BHS) in individuals living with Hereditary hemorrhagic telangiectasia (HHT) and to examine if coping strategies might have a mediating role between experienced illness and psychological distress. HHT is mainly caused by mutations in the ENG- or ALK1-genes and associated with a shorter life span. 90% of patients have recurrent nosebleeds. METHOD: 66 individuals affected of HHT participated in this cross-sectional study, completing questions due to demographic variables, Experience of illness, COPE, BHS and HADS. X(2) test, bivariate correlations with Pearson r and hierarchical multiple regression were used using PASW 18. RESULTS: Experience of illness made the highest variance in anxiety, depression and hopelessness and the coping strategy "behavioral disengagement" seems to have a mediating role between nose bleedings, being afraid of complications, satisfied with life and psychological distress. CONCLUSIONS: Experience of illness is of big importance in psychological distress in individuals affected of HHT, and behavioral disengagement explained the actual relationship between experience of illness and psychological distress.

Health-related quality of life in hereditary hemorrhagic telangiectasia.

OBJECTIVE: To assess and differentiate the health-related quality of life (HR-QoL) in patients with hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN AND SETTING: A prospective, open, cross-sectional questionnaire-based study (including the Short Form-36 Health Survey [SF-36]) performed by a tertiary care center. RESULTS: A total of 77 patients (36 females) were included. Except for one domain (bodily pain), the scores for all scales of the SF-36 were significantly reduced in comparison with normative data. The duration of epistaxis, the presence of hepatic involvement and gastrointestinal bleeding, and the number of visible telangiectases correlated with lower scores on several scales of the SF-36. Unexpectedly, the frequency of epistaxis did not correlate with any scale. CONCLUSIONS: The duration of epistaxis, liver involvement, gastrointestinal bleeding, and the number of visible telangiectases have a major influence on the HR-QoL in HHT whereby the frequency of epistaxis seems to play a minor role. SIGNIFICANCE: The data presented have an impact on therapeutic decisions, medical expert opinions, and research funding.

Management of epistaxis in hereditary hemorrhagic telangiectasia by Nd:YAG laser and quality of life assessment using the HR-QoL questionnaire.

The purpose of this study was to describe the results of Nd:YAG laser application in hereditary hemorrhagic telangiectasia (HHT) patients and to measure the Health-Related Quality of Life (HR-QoL) in patients with HHT before and after Nd:YAG laser application in a prospective, clinical trial at a university hospital. Twenty-seven consecutive patients with HHT and mild to moderate degrees of epistaxis were followed-up for 2 years after Nd:YAG laser treatments. Recurrence of epistaxis after Nd:YAG laser application and measurement of HR-QoL using the International Quality of Life Assessment questionnaire, version 1.1 (IQOLA 1.1), was found. Eight patients (30%) received only one Nd:YAG laser treatment, 15 (56%) had a recurrence and received a second treatment and 4 (14%) had two recurrences and received three Nd:YAG laser treatments. HR-QoL was improved 2 years after the first Nd:YAG laser application in both its Physical Health Dimension (47.5+/-2.9 vs. 38.1+/-2.3 before treatment, P <0.05) and Mental Health Dimension (45.1+/-2.7 vs. 39.6+/-2.4 before treatment, P <0.05). Although no curative treatment for HHT exists, Nd:YAG laser treatment seems to constitute a simple and efficient method of epistaxis control, resulting in a significant improvement in quality of life.

[Differential diagnostic problems in psychiatric diseases of involution illustrated with a case of abortive Osler disease]. / Differentialdiagnostische Probleme psychiatrischer Erkrankungen in der Involution, erläutert an einem Fall mit abortivem M. Osler.

Differentialdiagnostic problems of psychic diseases in the lifetime of involution commented on a case of abortive Osler's disease. From a differentialdiagnostic view, common problems of ranging in forms of psychosis in the age of involution are discussed by demonstration of a several years persisting and interesting course of psychosis in involution in a case of abortive Osler's disease, sustained by affectiveness. We underline, that in reflections of differentialdiagnostic value about psychosis of the involutional age, it is of priority, to identify a clear contoured psychic disorder as an accessory one in a primary somatic disease, or as a representative syndrome of a primary psychic disease. Somatic findings, in particular those of vascular origin (neuroradiological findings in the present case too) may complicate the problematic diagnostic efforts anyhow in the group of psychosis in the age of involution too.