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

Abstract

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.

Thalidomide for the Management of Bleeding Episodes in Patients with Hereditary Hemorrhagic Telangiectasia: Effects on Epistaxis Severity Score and Quality of Life

“…As the most common symptoms are associated with bleeding, patients are frequently evaluated by emergency departments or surgical and general practice departments and are regarded as cases of simple nose bleeds or gastrointestinal hemorrhage although an autosomal dominantly inherited disorder is present with a prominent family history that is ignored and unappreciated. The development of telangiectasia is related to aging, and as life expectancy is not affected and is even reported to be increased in recent studies, the quality of life of these patients should be a main goal of treatment [17,18]. Besides the irritative nature of mucosal bleeding, the consequence of these chronic bleeding episodes is iron deficiency and iron-deficiency anemia.…”

Difficulties adapting to Nail‐Patella syndrome: A qualitative study of patients' perspectives

“…Participants who were not diagnosed at birth tended to consider their physical malformation as a birth malformation and to not imagine that this symptom could be indicative of a more complex syndrome. The trivialization of congenital symptoms seems to be present when the symptoms are rooted in the patient's personal identity, implying that patients do not accept that they suffer from a more serious medical disease (Geerts et al, ).…”

Holding Secrets While Living With Life-Threatening Illness: Normalizing Patients’ Decisions to Reveal or Conceal

“…Historically, there has been secrecy/fear related to diseases that were considered transmissible—with disclosure often resulting in stigmatization and being ostracized. Concealing illness is often linked to shame, embarrassment, and fear associated with diagnoses such as mental illness (Bril-Barniv, Moran, Naaman, Roe, Karnieli-Miller, 2017) and cancer (Slatman, Halsema, & Meershoek, 2016; Wertheim et al, 2018), contracting HIV related to homosexuality (Genoway, Caine, Singh, & Estefan, 2016), fears of transmitting genetic diseases (Geerts et al, 2017), social embarrassment such as with urinary symptoms (Whybrow, Rapley, Pickard, & Hrisos, 2015), addictions including alcoholism (Glaser, 2013), and suicide (Salway & Gesink, 2018).…”