Living with Atypical Hemolytic Uremic Syndrome in the Netherlands: Patient and Family Perspective

Abstract

IntroductionAtypical hemolytic uremic syndrome (aHUS) poses a significant health challenge due to its rarity and severity within the spectrum of thrombotic microangiopathy (TMA). Despite efforts to optimize and personalize health care for aHUS patients, understanding the individual experiences, needs and desires of aHUS patients and relatives remains limited. MethodsHere we present a nationwide, exploratory, qualitative interview study with a direct content analysis approach. In-depth interviews and a six-week evaluation were audio-recorded and conducted using a semi-structured topic guide, based on the Institute for Positive Health (IPH) model. ResultsAnalysis of ten interviews involving six aHUS patients and thirteen relatives revealed the prevalence of long-term disease symptoms in adult patients, notably fatigue, which significantly impacted daily functioning. Moreover, the resilience demonstrated by patients and their relatives was noteworthy, yet the acute phase of aHUS and the unpredictable nature of disease recurrence could profoundly affect mental well-being. The emotional toll of aHUS is pervasive, with feelings of fear, guilt and trauma persisting across disease phases in both patients and relatives. Challenges in medical care, including delays in diagnosis and the need for personalized and uniform protocols, were highlighted. Support was deemed crucial, indicating the necessity for enhancements in the accessibility of comprehensible disease information and psychological counselling. At last, complexities surrounding genetic testing and carriership were discussed. ConclusionThis study underscores the profound, enduring and multifaced impact of aHUS. The insights gleaned from the experiences and needs of aHUS patients and their relatives could lay the foundation for development and implementation of more personalized innovations in aHUS healthcare.