Life experiences of individuals with hereditary hemorrhagic telangiectasia and disclosing outside the family: a qualitative analysis
Hereditary hemorrhagic telangiectasia (HHT; OMIM 187300) is a disorder that affects 1:5000-1:10,000 people worldwide, with an estimated 60,000 affected individuals in the USA. Approximately 50 % of patients with HHT experience potentially life-threatening health complications such as stroke, brain abscess, or heart failure. However, the most common symptom is spontaneous and frequent nosebleeding. HHT is a hereditary condition with significant health consequences, but little is known about how individuals cope with HHT on a daily basis and how individuals share information about the disorder with social groups outside of the family. The objectives of this study were to improve understanding of the daily experiences of patients with diagnosed HHT and to investigate how they disclose their diagnosis to various social groups (friends, dating partners, employers, and coworkers) outside of their biological family. Adult patients seen at a university HHT clinic and who had been diagnosed with HHT for at least 6 months were recruited by mail. Participants completed semi-structured telephone interviews (n = 19). A qualitative content analysis of interview transcripts identified four major categories: (1) the emotional impact of HHT, (2) the social impact of HHT, (3) concerns for current and future health related to HHT, and (4) social context drives disclosure of HHT. Participants reported that although HHT was a manageable hereditary disorder, the symptoms negatively affected their daily life. It is important for health care providers to understand how individuals with rare genetic disorders are managing.